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Diseases » Blindness » Glossary
 

Glossary for Blindness

  • Absence of septum pellucidum and septo-optic dysplasia: A rare birth defect where a thin membrane in the middle of the brain is missing. This brain abnormality is never present on it's own but is a characteristic of septo-optic dysplasia where the patient also has optic disk abnormalities and pituitary deficiencies.
  • Absence of septum pellucidum with porencephalia syndrome: A rare syndrome present at birth and characterized by the absence of the thin membrane in the middle of the brain (septum pellucidum) as well as abnormal cavities in the brain (porencephaly). The syndrome also involves other structural brain abnormalities.
  • Acanthamoeba infection: Infection with a microscopic, free-living ameba that is readily found in the environment - soil, air and water. Most people exposed to the ameba will not become infected but when infections do occur, they tend to affect the eyes, central nervous system or can cause widespread infection throughout the body.
  • Acanthamoeba infection of the eye: Infection by an amoebic organism called Acanthamoeba. Infection usually occurs when the amoeba enters through a break in the skin or through the nose. Infection can be localized or systemic where it can involve the central nervous system and cause potentially fatal meningoencephalitis. Infection of the eye can occur by cleaning contact lenses in contaminated water.
  • Acanthamoeba keratitis: Infection of the eye with a microscopic, free-living ameba (Acanthamoeba) that is readily found in the environment - soil, air and water. Infection most often occurs through exposure to contaminated water while wearing contact lenses e.g. swimming or showering in infected waters.
  • Acromegaloid changes, cutis verticis gyrata and corneal leukoma: A rare disorder characterized by acromegaly (enlarged extremeties) , furrowed skin on scalp and face and corneal leukomas.
  • Acromegaloid, Cutis Verticis Gyrata, Corneal Leukoma Syndrome: A rare condition characterized by the association of acromegaly, cutis verticis gyrate and corneal leukoma.
  • Acute posterior multifocal placoid pigment: A rare eye disease where the central vision in one or both eyes is affected by inflammation or fluid build up in the retina. The retina lies at the back of the eye. Symptoms such as fever, headache and malaise often precede the eye symptoms. The cause of the condition is unknown but may have autoimmune origins.
  • Acute retinal necrosis syndrome: An acute infection of the eye usually caused by the chicken pox virus (varicella-zoster), herpes simplex or cytomegalovirus. One or both eyes may be involved.
  • Aganglionosis, total intestinal: A developmental defect of the intestinal tract where the muscles of the intestines are unable to function and move food along the digestive tract. This form of Hirschsprung disease is differentiated from the other types by the location of the genetic defect.
  • Age-related macular degeneration: Deterioration of the central field of vision.
  • Alezzandrini syndrome: A rare condition involving degenerative eye disease in one eye, followed by other facial symptoms on the same side and hearing impairment. The condition progresses over months or years.
  • Alpers Syndrome: A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation.
  • Alstrom syndrome: A rare genetic disorder involving a group of abnormalities affecting vision, hearing, kidney function and also characterized by obesity and diabetes mellitus.
  • Alveolar Hydatid Disease: Rare multi-organ tapeworm infection caught from animals.
  • Amaurosis Congenita of Leber, type 12: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 12 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 1q32.3.
  • Amaurosis Congenita of Leber, type 13: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is obvious usually by the age of 4 years. Type 13 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 14q23.3, RDH12 gene.
  • Amaurosis congenita of Leber: A rare genetic eye disorder characterized by blindness at birth or within years as well as other eye abnormalities.
  • Amaurosis congenita of Leber, type 1: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type I is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 17p13.1, RETGC1 gene.
  • Amaurosis congenita of Leber, type 10: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 10 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 12, CEP290 gene.
  • Amaurosis congenita of Leber, type 11: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 11 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 7q, IMPDH1 gene.
  • Amaurosis congenita of Leber, type 2: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 2 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 1, RPE65 gene.
  • Amaurosis congenita of Leber, type 3: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 3 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 14q23.3, RDH12 gene.
  • Amaurosis congenita of Leber, type 4: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 4 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 17p13.1, AIPL1 gene.
  • Amaurosis congenita of Leber, type 5: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 5 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 6q11-q16.
  • Amaurosis congenita of Leber, type 6: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 6 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 14q11, RPGRIP1 gene.
  • Amaurosis congenita of Leber, type 7: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 7 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 19q13.3, CRX gene.
  • Amaurosis congenita of Leber, type 8: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 8 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 1q31-q32.1, CRB1 gene.
  • Amaurosis congenita of Leber, type 9: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 9 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 1p36, LCA9 gene.
  • Amaurosis fugax: A rare condition where a temporary blockage of blood flow to the retina causes vision loss in the affected eye until the blood flow returns.
  • Amitriptyline -- Teratogenic Agent: There is strong evidence to indicate that exposure to Amitriptyline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Amyloidosis of gingiva and conjunctiva mental retardation: A rare disorder characterized by mental retardation and abnormal amyloid deposits in the gums and conjunctiva of the eye.
  • Anencephaly: A birth defect where most or all of the brain is missing - most die before birth. Usually the associated portions of skull and other tissue are also missing.
  • Angioid streaks: Streaks that radiate out from the optic nerve head under the retina. The streaks may be red, brown or grey. The streaks resemble blood vessels and hence the term angioid. The streaks represent tiny breaks in the elastic membrane of the retina (Bruch's membrane). The anomaly is often associated with conditions such as Paget's disease, sickle cell anemia, Ehlers-Danlos syndrome and pseudoxanthoma elasticum.
  • Aniridia: A genetic disorder where part or all of the iris of one or both eyes is missing. The iris is the colored part of the eye. There are four forms of the disease: AN-1, AN-II, AN-III and AN-IV.
  • Aniridia I: A genetic disorder where part or all of the iris (except for the stump) of one or both eyes is missing. The iris is the colored part of the eye. There are four forms of the disease: AN-1, AN-II, AN-III and AN-IV.
  • Aniridia II: A genetic disorder where part or all of the iris of one or both eyes is missing. The iris is the colored part of the eye. There are four forms of the disease: AN-1, AN-II, AN-III and AN-IV. AN-II is often associated with other eye problems such as glaucoma and nystagmus.
  • Aniridia III: A genetic disorder where part or all of the iris of one or both eyes is missing. The iris is the colored part of the eye. There are four forms of the disease: AN-1, AN-II, AN-III and AN-IV. AN-III is associated with mental retardation.
  • Anophthalmia -- megalocornea -- cardiopathy -- skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
  • Anophthalmia -- short stature -- obesity: A very rare syndrome characterized by absent eyes, short stature and obesity.
  • Autoimmune eye diseases: Eye disease that is caused by an autoimmune disease
  • Autoimmune uveitis: Autoimmune inflammation of the eye's uvea.
  • Avitaminosis: A group of diseases caused by the deficiency of one or more vitamins e.g. Beriberi (thiamine deficiency), rickets (Vitamin D deficiency), pellagra (niacin deficiency), pernicious anemia (Vitamin B12), bleeding (vitamin K deficiency) and night blindness (avitaminosis A). Symptoms depend on the type and degree of vitamin deficiency. Lack of various vitamins can affect just about every part of the body including the nervous system.
  • Axenfeld-Rieger syndrome: A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities. The range of symptoms that can occur is somewhat variable.
  • Bardet-Biedl Syndrome: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities.
  • Bardet-Biedl syndrome, type 1: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 1 is caused by a defect in chromosome 11q13.
  • Bardet-Biedl syndrome, type 10: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 10 is caused by a defect in chromosome 12q.
  • Bardet-Biedl syndrome, type 11: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 11 is caused by a defect in chromosome 9q33.1.
  • Bardet-Biedl syndrome, type 12: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 12 is caused by a defect in chromosome 4q27.
  • Bardet-Biedl syndrome, type 2: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 2 is caused by a defect in chromosome 16q21.
  • Bardet-Biedl syndrome, type 3: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 3 is caused by a defect in chromosome 3p12-q13.
  • Bardet-Biedl syndrome, type 4: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 4 is caused by a defect in chromosome 15q22.3.
  • Bardet-Biedl syndrome, type 5: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 5 is caused by a defect in chromosome 2q31.
  • Bardet-Biedl syndrome, type 6: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 6 is caused by a defect in chromosome 20p12.
  • Bardet-Biedl syndrome, type 7: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 7 is caused by a defect in chromosome 4q27.
  • Bardet-Biedl syndrome, type 8: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 8 is caused by a defect in chromosome 14q32.11.
  • Bardet-Biedl syndrome, type 9: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 9 is caused by a defect in chromosome 7p14.
  • Batten Disease: Rare childhood genetic degenerative nerve system disease.
  • Behcet's Disease: Recurring inflammation of small blood vessels affecting various areas.
  • Benign essential blepharospasm: A neurological disorder where certain eye muscles fail to function properly.
  • Besnier-Boeck-Schaumann disease: A rare disease where inflammatory granular nodules form in various organs.
  • Blindness: The inability to see out of the eyes
  • Blow to the head: usually refers to any blunt injury to head
  • Blue-ringed octopus poisoning: The blue-ringed octopus is found in shallow Australian ocean water and can deliver venomous, potentially fatal bite. The poison is present in the saliva of the octopus. The venom affects the neuromuscular system.
  • Bothnia retina dystrophy: A genetic eye disease which occurs predominantly in a part of Sweden.
  • Brain cancer: Cancer of the brain.
  • CAR syndrome: A progressive autoimmune eye disease caused by cancer that occurs outside the eye area. It is a type of paraneoplasic cancer which refers to distant neurological effects caused by a cancer. Eye symptoms usually occur before the cancer is detected.
  • Canavan disease: Rare genetic degenerative brain disease in infants.
  • Canavan leukodystrophy: A rare inherited disorder where a chemical imbalance in the brain leads to spongy degeneration of the central nervous system which results in progressive mental deterioration and associated symptoms.
  • Cancer: Abnormal overgrowth of body cells.
  • Carbamazepine -- Teratogenic Agent: There is strong evidence to indicate that exposure to Carbamazepine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cardiomyopathy -- hypogonadism -- metabolic anomalies: A rare syndrome characterized mainly by heart muscle disease, hypogonadism, blindness, deafness and metabolic anomalies. Puberty was normal despite the hypogonadism.
  • Carotid artery stenosis:
  • Cartilaginous -- arthritic -- ophthalmic -- deafness syndrome: A rare syndrome characterized by the association of eye, joint and cartilage disease as well as deafness.
  • Cataracts: Cloudy areas on the eye's cornea interfering with vision.
  • Catastrophic Antiphospholipid Syndrome: A very rare disorder where the blood clotting system becomes dysfunctional and clots too easily due to the abnormal presence of antphospholipid antibodies. It results in blood flow blockages to various body organs. It is possible that the condition has autoimmune origins. The disorder is often triggered by infections, certain drugs (e.g. anticoagulants), minor surgery and hysterectomy.
  • Central serous chorioretinopathy: A rare eye disorder where fluid collects under the retina which affects vision. The condition usually resolves itself within 6 months though most people suffering lingering vision disturbances such as distortion, reduced sensitivity to contrast, impaired night vision and reduced color vision.
  • Cerebrovascular accident: Occurs when the blood supply to the brain is interrupted and results in cell injury and death.
  • Ceroid lipofuscinosis, neuronal 1, infantile: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (palmitoyl-protein thioesterase) needed to process it.
  • Chalazion: Slow-growing swelling of the upper or lower eyelid usually caused by a blockage in the oil glands in the eyelid.
  • Chemical adverse reaction -- Cesium: Cesium is a chemical used mainly in the photosterilization of foods such as wheat and potatoes and in the manufacture of photoelectric cells. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount (and concentration) of chemical involved and the nature of the exposure.
  • Chemical burn: A chemical burn is a burn caused by a chemical. Symptoms vary depending on the chemical, the part of the body affected and the duration of the exposure to the chemical. Rapid first aid following exposure can limit the damage caused by the chemical. Chemical burns can occur when certain chemicals are accidentally swallowed, spilt on the skin, splashed in the eyes or even breathed in the case of chemical gases.
  • Chemical burn -- eyes: Burns to the eye caused by a chemical. Symptoms vary depending on the type, quantity and strength of the chemical involved as well as the duration of the exposure to the chemical and promptness of treatment measures. Immediate medical attention should be sought if chemical burns to the eyes are suspected.
  • Chemical poisoning -- Methanol: Methanol is a chemical used mainly in fuel, paint removers, solvent, antifreeze and in the production process of many other products. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Monosodium Methanarsenate: Monosodium Methanarsenate is a chemical used mainly as a herbicide or pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Morpholine: Morpholine is a chemical used in a variety of applications: rubber industry, corrosion inhibitor, pharmaceuticals, dyes, crop pesticides and as a solvent in various manufacturing processes. The chemical may be absorbed through the skin. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Pepper Spray: Pepper Spray is a chemical used mainly in riot control. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chlorpheniramine -- Teratogenic Agent: There is evidence to indicate that exposure to Chlorpheniramine (an antihistamine medication) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Chorioretinitis: Inflammation of the choroids and retina of the eye. It can be caused by various pathogens such as bacteria, viruses, fungus or protozoa. Other noninfectious diseases such as sarcoidosis can cause abnormal deposits in the eye which can also result in inflammation.
  • Choroideremia: A rare, inherited, progressive eye disease that causes degeneration of the retina and blindness. The disease usually only affects males.
  • Choroiditis: Inflammation of the part of the eye called the choroid (layer behind the retina). Usually only one eye is affected.
  • Chromosome 11, deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 13, Partial Monosomy 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Closed-angle glaucoma: A severe form of glaucoma needing emergency treatment to avoid blindness.
  • Cluster headache: Headache that occurs periodically, with active periods interrupted by spontaneous remissions.
  • Cobra poisoning: The Cobra is a poisonous snake which can be found in Africa, Asia and other parts of the world. Some cobras are able to spit venom into the victims eye and cause serious symptoms.
  • Coenzyme Q cytochrome c reductase deficiency of: A rare genetic defect where an enzyme deficiency (CoQ-Cytochrome C reductase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as cardiomyopathy, fatal infant conditions and Leber's myopathy.
  • Cogan's syndrome: A disorder primarily involving eye inflammation and hearing impairment and dizziness. Complete deafness usually occurs within a couple of years. The disorder is caused by inflammation of the arteries in the ear. Sometimes arteries in other parts of the body may also be affected e.g. skin, kidneys and other organs.
  • Communication conditions: Medical conditions affecting the communication systems, such as speech.
  • Communication disorders: Various disorders limiting the ability to communicate (including developmental communication disorders)
  • Cone dystrophy: A rare inherited eye disorder characterized by the deterioration of the cone cells in the retina of the eye leading to vision loss.
  • Cone rod dystrophy: A rare inherited eye disorder characterized by the deterioration of the cone and rod cells in the retina of the eye leading to vision loss.
  • Cone rod dystrophy -- amelogenesis imperfecta: A rare genetic disorder characterized by degeneration of parts of the eye that absorb light (cone rod dystrophy) as well as teeth abnormalities.
  • Congenital X-linked retinoschisis: An inherited eye condition where degenerative changes in the eye causes the retina to split. The severity and age of onset of symptoms can vary.
  • Congenital disorder of glycosylation type 1G: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IG is caused by a defect on chromosome 22q13.33 and involves the gene for a particular enzyme (dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase).
  • Conjunctivitis: Contagious eye infection
  • Conversion Disorder: A psychological condition where physical symptoms arise due to emotional dilemmas.
  • Corneal scarring: Scarring occurring on the cornea.
  • Corneal ulcer: Sore on the eye's cornea
  • Cortical blindness -- mental retardation -- polydactyly: A very rare syndrome characterized by mental retardation, extra fingers and vision loss.
  • Cortical hyperostosis-syndactyly: A rare genetic disorder characterized by webbed fingers and thickening and overgrowth of bones.
  • Craniodiaphyseal dysplasia: A very rare bone disorder where excess calcium is deposited mainly in the skull bones which can result in compression of various nerves in the skull and even the brain.
  • Craniosynostosis: A defect involving the fusion of one or more bones in the skull before it has finished growing which affects the head size and shape and can affect the growth of the brain. The defect is often associated with other conditions. Symptoms are determined by which skull bones are prematurely fused.
  • Craniosynostosis exostoses nevus epibulbar dermoid: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using aminoglycosides as they can have a negative impact on hearing.
  • Cree leukoencephalopathy: A rare form of brain demyelination which usually starts between 3 and 9 months of age and death occurs by 21 months.
  • Creutzfeldt-Jakob Disease: A very rare degenerative brain disease that can be inherited, transmitted (eg in surgical transplants using infected tissue) or as a result of genetic mutations. The condition is fatal.
  • Crome syndrome: A very rare disorder characterized by various abnormalities including mental retardation, epilepsy and eye and kidney problems.
  • Cytomegalovirus: A easily transmissible viral infection that is common but generally causes no symptoms except in infants and people with weakened immune systems.
  • Cytomegalovirus retinitis: Inflammation of the retina of the eye which can cause blindness. The cytomegalovirus is an easily transmissible viral infection that is common but generally causes no symptoms except in infants and people with weakened immune systems.
  • DIDMOAD Syndrome, Mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
  • Daphne poisoning: Daphne is a shrub that contains a toxin called mezerein (skin irritant) in the bark as well as a toxin called daphnin. The bark, sap and berries are the most toxic parts of the plant. The plant is native to Europe and Asia but is also found in other parts of the world such as America. A single berry or leaf can cause symptoms and 2 or 3 can cause death in a child. About 12 berries or leaves can cause quite severe symptoms in adults.
  • Deafness -- Opticoacoustic nerve atrophy -- dementia: A rare genetic disorder characterized by degeneration of the optic nerve (causing impaired vision), deafness due to nerve damage and dementia due to calcification of the central nervous system. Death usually results by about the age of 40 with extensive calcification of all parts of the nervous system.
  • Deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Deletion 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Dermatoosteolysis, Kirghizian type: A rare condition characterized by a variety of abnormalities including missing teeth, recurring skin ulceration, eye problems and nail symptoms.
  • Desferrioxamine toxicity: Excessive intake of desferrioxamine (a chelating agent used to treat iron storage disorders) can result in vision problems. Cessation of the drug can result in some improvement in vision
  • Devic disease: A rare nerve disorder involving demyelination of spinal cord and eye nerves.
  • Diabetes: Failing or reduced ability of the body to handle sugars.
  • Diabetes insipidus, diabetes mellitus, optic atrophy, deafness, mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
  • Diabetic Ketoacidosis: Life-threatening complication of high blood sugars and diabetes.
  • Diabetic Retinopathy: Diabetic retinopathy is the most common diabetic eye disease and a leading cause of blindness in American adults. It is caused by changes in the blood vessels of the retina.
  • Diphenhydramine -- Teratogenic Agent: There is evidence to indicate that exposure to Diphenhydramine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Dothiepin -- Teratogenic Agent: There is evidence to indicate that exposure to Dothiepin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
  • Dysosteosclerosis: A rare inherited condition characterized by bone development abnormalities (excessive hardening of bone and flattened vertebrae), characteristic facial features. Excessive bone growth at the base of the skull can damage the optic nerves and affect vision.
  • Eales Disease: A rare eye disorder characterized by sudden vision loss, problems with eye blood vessuls and reoccurring eye blood vessel hemorrhages as well as oozing of clear thick fluid from inside the eyeball. Usually occurs after a stressful situation, trauma or after waking up.
  • Ebola: Dangerous virus mostly found in Africa.
  • Ectodermal dysplasia -- blindness: A rare syndrome characterized mainly be mental retardation, vision loss, short stature and teeth and hair abnormalities.
  • Emanuel syndrome: A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.
  • Empty sella syndrome -- acquired: A disorder where the bony structure surrounding the pituitary gland (sella) appears to be empty except for the cerebrospinal fluid - often results from radiation, surgery or injury which causes the pituitary gland to shrink.
  • Encephalocele anterior: Protrusion of a portion of the brain tissue through a skull defect in the anterior portion of the skull. The severity of symptoms depends on the exact location and size of the deformity.
  • Encephalocele frontal: Protrusion of a portion of the frontal brain tissue through a skull defect. The severity of symptoms depends on the exact location and size of the deformity.
  • Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
  • Eye cancer: A malignancy that affects the eye
  • Eye conditions: Any condition that affects the eyes
  • Eye infection: AN infection that occurs in the eye
  • Familial Hypercholesterolemia: A genetic abnormality which causes patients to have abnormally high cholesterol levels (low-density lipoproteins). The condition usually leads to early cardiovascular disease.
  • Familial infantile metachromatic leukodystrophy -- late infantile: An infantile form of an inherited biochemical disorder involving a deficiency of an enzyme called cerebroside sulfatase. The enzyme deficiency causes cerebroside sulfate to build up within the body and causes damage to the nervous system including the brain. The late infantile form of this disease is much more common than the juvenile or adult form.
  • Flynn-Aird syndrome: A rare inherited disorder where neurological degeneration causes symptoms such as dementia, ataxia, eye problems, skin disorders and muscle wasting.
  • Francois dyscephalic syndrome: A rare genetic disorder characterized by very small stature, microphthalmia, small pinched nose and hypotrichosis.
  • Fuchs atrophia gyrata chorioideae et retinae: A very rare disorder involving progressive degeneration of particular eye structures (choroids, pigment epithelium and retina). The condition causes the peripheral and night vision to progressively deteriorate and ultimately blindness occurs.
  • Fundus albipunctatus: A rare genetic eye disease which causes flecks in the retina.
  • GM1 gangliosidosis: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type 1 is a severe infantile form of the disorder and involves a greater degree of accumulation than type II or III.
  • Galactokinase deficiency: A rare condition where an enzyme deficiency (galactokinase) impaires the body's ability to break down galactose consumed in the diet.
  • Gangliosidosis generalized GM1, type 1: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type 1 is a severe infantile form of the disorder and involves a greater degree of accumulation than type II or III.
  • Ghose-Sachdev-Kumar syndrome: A rare eye disorder characterized by small eyes which suffer glaucoma and progressive vision loss.
  • Glaucoma: Glaucoma is the term for a diverse group of eye diseases, all of which involve progressive damage to the optic nerve. Glaucoma is usually, but not always, accompanied by high intraocular (internal) fluid pressure. Optic nerve damage produces certain characteristic visual field defects in the individual's peripheral (side), as well as central, vision.
  • Glaucoma, congenital: Glaucoma that is present at birth. Glaucoma is an eye condition where the pressure inside the eyeball is increased which can cause progressive vision problems. It may be a result of drainage structure abnormalities within the eye or may occur as a result of other conditions
  • Glaucoma, hereditary: An inherited form of glaucoma - includes congenital glaucoma, juvenile glaucoma and adult open-angle glaucoma.
  • Goldberg syndrome: A rare lysosomal storage disorder characterized by an enzyme deficiency (neuraminidase and beta-galactosidase) which results in a build-up of glycoproteins in the urine. There are three main subtypes: infantile, juvenile and adult forms. The early infantile form is the most severe and often results in death during infancy.
  • Gustavson syndrome: A very rare condition characterized by features such as mental retardation, spasticity, seizures and eye and ear problems.
  • Head Conditions: Conditions that affect the head
  • Heidenhain syndrome: A form of premature dementia caused by degeneration of the brain. It is considered a variant of Creutzfeldt-Jakob disease. Heidenhain syndrome is characterized mainly by eye problems whereas Creutzfeldt-Jakob predominantly involves ataxia.
  • Helminth infections: The infection by a parasitic worm
  • Herpes, Neonatal: Neonatal herpes is the infection of a newborn with the herpes virus within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is highest if genital herpes is contracted during the late stages of the pregnancy. A mother with long standing or recurring herpes infection usually has sufficient antibodies to the virus to prevent the infant becoming infected. Neonatal herpes can also be contracted when an infant comes into contact with an infected person e.g. being kissed by and adult with cold sores. A cesarean birth may be advised for mothers who have active genital lesions.
  • Herpes, Neonatal -- Central Nervous System Infection: Central nervous system herpes infection in neonates is a herpes infection of the central nervous system (brain, spinal cord) that develops in infants within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is highest if genital herpes is contracted during the late stages of the pregnancy. A mother with long standing or recurring herpes infection usually has sufficient antibodies to the virus to prevent the infant becoming infected. Neonatal herpes can also be contracted when an infant comes into contact with an infected person e.g. being kissed by and adult with cold sores. A cesarean birth may be advised for mothers who have active genital lesions. Central nervous system infection will occur in nearly three quarters of infants with a herpes infection.
  • Herpes, Neonatal -- Mucocutaneous and Ocular Infection: Mucocutaneous herpes infection in neonates is a herpes infection of the mucous membranes within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is highest if genital herpes is contracted during the late stages of the pregnancy. A mother with long standing or recurring herpes infection usually has sufficient antibodies to the virus to prevent the infant becoming infected. Neonatal herpes can also be contracted when an infant comes into contact with an infected person e.g. being kissed by and adult with cold sores. A cesarean birth may be advised for mothers who have active genital lesions.
  • Herpesvirus: A group of DNA viruses that occur in humans
  • Hydranencephaly: A very rare condition where fluid replaces a portion of the brain.
  • Hydrocephalus: A rare condition where the normal flow of cerebrospinal fluid is impaired by dilated brain ventricles which causes the fluid to accumulate in the skull and hence result in increased brain pressure.
  • Hydroxyzine -- Teratogenic Agent: There is evidence to indicate that exposure to Hydroxyzine (an antihistamine) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Hyperornithinemia: Excessive levels of ornithine in the blood caused by a deficiency of mitochondrial ornithine aminotransferase.
  • Hypertension: High blood pressure
  • Hypertension of pregnancy: Pregnancy hypertension is the development of high blood pressure during pregnancy. Hypertension is a serious health condition due to the fact that it often causes no symptoms until it is severe. The increased blood pressure can cause complications in pregnancy women e.g. eclampsia and HELLP syndrome. The blood pressure usually returns to normal after delivery.
  • Hyphema: Bleeding between cornea and iris in the eye
  • Hypoglycemia: Low blood sugar level
  • Hysteria: Psychological disorder causing physical symptoms
  • Increased intracranial pressure: Increased pressure inside the skull due to brain swelling or fluid accumulation
  • Infant Cytomegalic virus: A serious CMV viral infection in newborns.
  • Jensen syndrome: A rare genetic disorder characterized by degeneration of the optic nerve (causing impaired vision), deafness due to nerve damage and dementia due to calcification of the central nervous system. Death usually results by about the age of 40 with extensive calcification of all parts of the nervous system.
  • Juvenile Retinoschisis: An inherited eye condition where degenerative changes in the eye causes the retina to split. The severity and age of onset of symptoms can vary.
  • Keratitis: Any inflammation of the cornea of the eye
  • Keratomalacia: A rare eye disease that results from a deficiency of vitamin A.
  • Krabbe leukodystrophy: A rare inherited biochemical disorder involving the deficiency of an enzyme called galactocerebrosidase. It is a leukodystrophy which refers to a group of genetic disorders that affect the growth of the protective coating around the brain nerves.
  • Krabbé Disease: Brain myelin disorder with various symptoms.
  • Krause syndrome: A syndrome involving the abnormal development of the eye and cerebral portion of the brain. It most often occurs in premature infants or an infant from a multiple birth. It is believed to possibly result from intercurrent infections in the mother, placental abnormalities and hemorrhages that occur during the second trimester of the pregnancy.
  • LEOPARD Syndrome: A rare genetic disorder characterized by multiple lentigines, pulmonic stenosis, widely spaced eyes and deafness.
  • LORD: A rare, dominantly inherited eye disorder involving degeneration of the retina that starts during the fifth or sixth decade.
  • Leber Congenital Amaurosis, type 13: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is obvious usually by the age of 4 years. Type 13 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 14q23.3, RDH12 gene.
  • Leber congenital amaurosis, type 10: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 10 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 12, CEP290 gene
  • Leber congenital amaurosis, type 11: A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 11 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 7q, IMPDH1 gene
  • Leber congenital amaurosis, type 12: A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 12 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 1q32.3.
  • Leprosy: A chronic, progressive infectious disease caused by Mycobacterium leprae which causes skin sores and also affects the eyes, mucous membranes and peripheral nerves.
  • Leprosy, susceptibility to, 1: A chronic, progressive infectious disease caused by Mycobacterium leprae which causes skin sores and also affects the eyes, mucous membranes and peripheral nerves. The range of manifestations and severity of symptoms is quite variable. Researchers have discovered a number of genetic mutations linked to an increased susceptibility to leprosy. Type 1 is linked to a defect on chromosome 10p13.
  • Leprosy, susceptibility to, 2: A chronic, progressive infectious disease caused by Mycobacterium leprae which causes skin sores and also affects the eyes, mucous membranes and peripheral nerves. The range of manifestations and severity of symptoms is quite variable. Researchers have discovered a number of genetic mutations linked to an increased susceptibility to leprosy. Type 2 is linked to a defect on chromosome 6q25.2-q27.
  • Leprosy, susceptibility to, 3: A chronic, progressive infectious disease caused by Mycobacterium leprae which causes skin sores and also affects the eyes, mucous membranes and peripheral nerves. The range of manifestations and severity of symptoms is quite variable. Researchers have discovered a number of genetic mutations linked to an increased susceptibility to leprosy. Type 3 is linked to a defect on chromosome 4q32 and 4p14.
  • Leprosy, susceptibility to, 4: A chronic, progressive infectious disease caused by Mycobacterium leprae which causes skin sores and also affects the eyes, mucous membranes and peripheral nerves. The range of manifestations and severity of symptoms is quite variable. Researchers have discovered a number of genetic mutations linked to an increased susceptibility to leprosy. Type 4 is linked to a defect on chromosome 6p21.3.
  • Linear IgA dermatosis: A rare autoimmune skin condition characterized by blistered skin. The condition may occur after using certain drugs, following infection or there may be no apparent cause. It tends to occur in the non-reproductive years and most often affects the limbs, face or genital regions but may occur anywhere. The blisters may occur separately, in clusters or various other formations.
  • Lithium -- Teratogenic Agent: There is evidence to indicate that exposure to Lithium during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Lowe Syndrome: An X linked condition characterized by vitamin D deficiency and causing an oculocerebrorenal syndrome
  • Lowe oculocerebrorenal syndrome: A rare inherited metabolic disorder characterized primarily by eye and bone abnormalities, mental retardation and kidney problems.
  • Macular dystrophy, concentric annular: A rare genetic eye disorder characterized by the development of a pigmented ring around a central area that appears normal. It is a relatively benign disorder with vision impairment generally occurring later in life.
  • Malignant hypertension: Malignant hypertension is a condition characterized by very high blood pressure and swelling of the optic nerve. This type of hypertension is more common in people with kidney problems such as narrowed kidney blood vessels. The condition is a medical emergency which can cause organ damage if not treated promptly.
  • Marfan syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue.
  • Mefloquine -- Teratogenic Agent: There is evidence to indicate that exposure to Mefenamic Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Meningitis: Dangerous infection of the membranes surrounding the brain.
  • Mental retardation -- hypocupremia -- hypobetalipoproteinemia: A very rare syndrome characterized mainly by mental retardation, low blood copper levels and low betalipoprotein levels in the blood.
  • Mental retardation, X-linked, Wittwer type: A rare disorder characterized by severe mental retardation, retarded growth, seizures and vision and hearing problems. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
  • Mercury poisoning -- Folk Remedies: Various folk remedies and medicines contain inorganic mercury and mercury salts. They can lead to mercury poisoning and severe cases can result in death. Children tend to be more sensitive to the effects of mercury poisoning than adults. Even low levels of exposure can cause neurological symptoms in infants and young children. Fetal exposure to mercury can also result in symptoms.
  • Mercury poisoning -- consumption of contaminated fish: Eating fish contaminated with mercury can lead to mercury poisoning in humans. The severity and range of symptoms experienced can vary greatly depending on the level and duration of exposure. Severe poisoning can lead to death. Pregnant women who eat mercury contaminated fish may give birth to infants who suffer symptoms such as ataxia, tremors, seizures, mental retardation and cerebral palsy. An epidemic was reported where hundreds of Japanese villagers suffered mercury poisoning after eating fish contaminated by a nearby factory. Nearly half of the victims eventually died and children born during that period suffered a variety of neurological problems.
  • Metachromatic Leukodystrophy: An inherited biochemical deficiency involving a deficiency of the enzyme called arylsulfatase A which leads to a harmful buildup of fatty material in the body.
  • Methanol poisoning: Excessive ingestion of methanol. Methanol can be found in fuel, solvents and paint products.
  • Microcephaly -- microphthalmos -- blindness: A very rare syndrome characterized mainly by a small head, small eyes and blindness.
  • Microphthalmia -- brain atrophy: A rare syndrome characterized by small eyes and degeneration of brain tissue which causes various abnormalities such as mental retardation. Usually the infant is relatively normal for a number of months after birth followed by rapid loss of previous acquired skills due to degeneration of the white matter of the brain.
  • Microphthalmia syndromic, type 10: A rare inherited syndrome characterized mainly by small eyes and wasting of brain tissue.
  • Microvascular Complications of Diabetes, Susceptibility to: Diabetics are prone to developing microvascular complications and experts have now discovered a number of genetic defects which may predispose diabetics to developing these complications. Seven genetic defects have so far been described.
  • Microvascular Complications of Diabetes, Susceptibility to, 1: Diabetics are prone to developing microvascular complications and experts have now discovered a number of genetic defects which may predispose diabetics to developing these complications. Seven genetic defects have so far been described. In type 1, the genetic defect is linked to chromosome
  • Microvascular Complications of Diabetes, Susceptibility to, 2: Diabetics are prone to developing microvascular complications and experts have now discovered a number of genetic defects which may predispose diabetics to developing these complications. Seven genetic defects have so far been described. In type 2, the genetic defect is linked to chromosome 7q21 and it appears to increase the risk of diabetic kidney and eye disease in particular.
  • Microvascular Complications of Diabetes, Susceptibility to, 5: Diabetics are prone to developing microvascular complications and experts have now discovered a number of genetic defects which may predispose diabetics to developing these complications. Seven genetic defects have so far been described. In type 5, the genetic defect is linked to chromosome 7q21.3 and and it appears to increase the risk of diabetic eye disease in particular.
  • Microvascular Complications of Diabetes, Susceptibility to, 7: Diabetics are prone to developing microvascular complications and experts have now discovered a number of genetic defects which may predispose diabetics to developing these complications. Seven genetic defects have so far been described. In type 7, the genetic defect is linked to chromosome 6p21.3 and it appears to increase the risk of diabetic kidney and eye disease in particular.
  • Migraine: Chronic recurring headaches with or without a preceding aura.
  • Mitochondrial diseases: Any of a group of mitochondrial disorders affecting cell metabolism and especially muscles.
  • Mucolipidosis type 1: An inherited metabolic disorder where a defect in the enzyme alpha-neuraminidase prevents glycoproteins being metabolized - a milder form of the condition than sialidosis type II.
  • Mucormycosis: An infectious disease caused by fungus from the order Mucorales which is normally found in the soil and in decaying plant matter. Transmission is usually through the inhalation of spores. It is generally harmless to healthy individuals but can cause infection in patients who are immunocompromised or who have a serious chronic illness such as uncontrolled diabetes. Symptoms and severity can vary considerable depending on the part of the body the infection occurs in - gastrointestinal tract, skin, lungs, central nervous system, eye orbit and the paranasal sinuses.
  • Multiple Sclerosis: Autoimmune attack on spinal nerves causing diverse and varying neural problems.
  • Multiple Sclerosis, Susceptibility To, 1: Multiple sclerosis is a nerve or spinal cord disease that causes random damage to parts of the nervous system. The result is a diverse range of possible symptoms depending on which parts of the cord are damaged, and how often the inflammation reoccurs. Typical symptoms are any kind of tingling, numbness, burning sensations, "pins-and-needles" or other types of sensory changes in various parts of the body. Researchers have discovered that some forms of multiple sclerosis are linked to a genetic defect. Type 1 is linked to a defect on chromosome 6p21.3.
  • Multiple Sclerosis, Susceptibility To, 2: Multiple sclerosis is a nerve or spinal cord disease that causes random damage to parts of the nervous system. The result is a diverse range of possible symptoms depending on which parts of the cord are damaged, and how often the inflammation reoccurs. Typical symptoms are any kind of tingling, numbness, burning sensations, "pins-and-needles" or other types of sensory changes in various parts of the body. Researchers have discovered that some forms of multiple sclerosis are linked to a genetic defect. Type 2 is linked to a defect on chromosome 10p15.1.
  • Multiple Sclerosis, Susceptibility To, 3: Multiple sclerosis is a nerve or spinal cord disease that causes random damage to parts of the nervous system. The result is a diverse range of possible symptoms depending on which parts of the cord are damaged, and how often the inflammation reoccurs. Typical symptoms are any kind of tingling, numbness, burning sensations, "pins-and-needles" or other types of sensory changes in various parts of the body. Researchers have discovered that some forms of multiple sclerosis are linked to a genetic defect. Type 3 is linked to a defect on chromosome 5p13.2.
  • Multiple Sclerosis, Susceptibility To, 4: Multiple sclerosis is a nerve or spinal cord disease that causes random damage to parts of the nervous system. The result is a diverse range of possible symptoms depending on which parts of the cord are damaged, and how often the inflammation reoccurs. Typical symptoms are any kind of tingling, numbness, burning sensations, "pins-and-needles" or other types of sensory changes in various parts of the body. Researchers have discovered that some forms of multiple sclerosis are linked to a genetic defect. Type 4 is linked to a defect on chromosome 1p36.
  • Nalidixic Acid -- Teratogenic Agent: There is evidence to indicate that exposure to Nalidixic Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Neonatal ophthalmitis: Eye discharge in newborns
  • Neuraminidase deficiency: A rare inherited disorder involving an enzyme (neuraminidase and beta-galactosidase) deficiency which results in a build up of glycoproteins (sialyloligosaccharides) in the urine.
  • Neuroaxonal dystrophy, infantile: An inherited disorder involving progressive muscular and coordination problems, impaired brain function and speech and vision impairment.
  • Neurodegenerative syndrome, X-linked, Hamel type: A very rare neurodegenerative disorder characterized mainly by mental retardation, blindness, convulsions, spasticity and early death. The disorder is X-linked and thus only males suffer the full extent of the symptoms whereas female carriers may be asymptomatic or have only mild symptoms.
  • Neuromyelitis Optica: A demyelinating disorder associated with transverse myelopathy and optic neuritis
  • Night blindness: Poor vision in darkness or dim light
  • Night blindness -- skeletal anomalies -- unusual facies: A very rare syndrome characterized mainly by night blindness, a distinctive face and skeletal abnormalities.
  • Night blindness, congenital stationary: A rare inherited disorder of the retina that involves the rods of the eyes. A reduced sharpness of vision and night blindness are usually the only symptoms. The disorder is non-progressive.
  • Night blindness, congenital stationary, autosomal dominant: A rare inherited disorder of the retina that involves the rods of the eyes. A reduced sharpness of vision and night blindness are usually the only symptoms. The non-progressive disorder is dominantly inherited.
  • Night blindness, congenital stationary, type 1A: A rare X-linked disorder of the retina that involves the rods of the eyes. A reduced sharpness of vision and night blindness are usually the only symptoms. The non-progressive disorder is linked to a defect at chromosome Xp11.4 and occurs only in males though females may be carriers.
  • Night blindness, congenital stationary, type 1B: A rare inherited disorder of the retina that involves the rods of the eyes. A reduced sharpness of vision and night blindness are usually the only symptoms. The non-progressive disorder is recessively inherited and is linked to a defect at chromosome 5q35.
  • Night blindness, congenital stationary, type 2A: A rare X-linked disorder of the retina that involves the rods of the eyes. A reduced sharpness of vision and night blindness are usually the only symptoms. The non-progressive disorder is linked to a defect at chromosome Xp11.23 and occurs only in males though females may be carriers.
  • Night blindness, congenital stationary, type 2B: A rare inherited disorder of the retina that involves the rods of the eyes. A reduced sharpness of vision and night blindness are usually the only symptoms. The non-progressive disorder is recessively inherited and is linked to a defect at chromosome 11q13.1.
  • Noble-Bass-Sherman syndrome: A very rare syndrome characterized by various eye anomalies.
  • Norrie Disease: A rare form of blindness that occurs at birth or soon after due to eye defects. The severity and range of symptoms is variable.
  • Norrie syndrome: A rare form of blindness that occurs at birth or soon after due to eye defects. The severity and range of symptoms is variable.
  • Nortriptyline -- Teratogenic Agent: There is evidence to indicate that exposure to Nortriptyline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Nutritional deficiency: Any deficiency of the nutrients that are required to sustain human life
  • Nyssen-Van Bogaert syndrome: An adult form of an inherited biochemical disorder involving a deficiency of an enzyme called cerebroside sulfatase. The enzyme deficiency causes cerebroside sulfate to build up within the body and causes damage to the nervous system including the brain.
  • Nyssen-Van Bogaert-Meyer syndrome: A very rare genetic disorder characterized by progressive degeneration of the central nervous system.
  • Obal syndrome: The association of eye problems with severe malnutrition. The condition occurred frequently in soldiers, prisoners of war and people in concentration camps.
  • Ocular Herpes: Viral infection of the eye from herpes virus.
  • Ocular cicatricial pemphigoid: A rare chronic autoimmune eye condition that can result in blindness if not treated. The conjunctival and mucosal layers of the eye (inside of eyelid and outside of eye) become progressively inflamed and scarred. The condition can be very difficult to treat.
  • Ocular histoplasmosis syndrome: An uncommon eye complication from lung histoplasmosis.
  • Oculocerebral syndrome with hypopigmentation: A rare inherited disorder involving lack of pigmentation and eye and brain defects caused by central nervous system abnormalities.
  • Oguchi disease: A rare genetic eye disorder characterized by night blindness. The night vision impairment is not progressive. The fundus color returns to a normal red when exposed to lack of light for an hour or so (Mitzuo's phenomenon).
  • Oligodontia, keratitis, skin ulceration and arthroosteolysis: A rare condition characterized by a variety of abnormalities including missing teeth, recurring skin ulceration, eye problems and nail symptoms.
  • Olivopontocerebellar atrophy type 3: A disorder where degeneration of certain parts of the brain and spinal cord results in symptoms such as blindness, tremor, speech problems and ataxia.
  • Open-angle glaucoma: Vision damage from a slow chronic buildup of fluid pressure in the eye.
  • Optic neuritis: Optic nerve inflammation
  • Opticoacoustic nerve atrophy dementia: A rare genetic disorder characterized by degeneration of the optic nerve (causing impaired vision), deafness due to nerve damage and dementia due to calcification of the central nervous system. Death usually results by about the age of 40 with extensive calcification of all parts of the nervous system.
  • Orbit Tumour: Tumour growing in the eye socket (space behind or surrounding the eyeball); may be benign or malignant or due to secondary growth from another malignancy
  • Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa: A rare syndrome characterized by extreme dwarfism, deafness, progressive scoliosis and retinal pigment anomalies.
  • Osteopetrosis lethal: A severe, lethal form of the brittle bone condition called osteopetrosis.
  • Osteopetrosis, autosomal recessive 2: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. This form is relatively mild with survival possible for a couple of decades in some cases.
  • Osteoporosis -- macrocephaly -- blindness -- joint hyperlaxity: A very rare syndrome characterized mainly by mental retardation, osteoporosis, blindness and a large head.
  • Osteoporosis -- macrocephaly -- mental retardation -- blindness: A very rare syndrome characterized mainly by mental retardation, osteoporosis, blindness and a large head.
  • Pantothenate kinase-associated neurodegeneration: A rare, inherited, progressive neurological movement disorder where accumulation of iron in the brain causes degeneration of the nervous system.
  • Panuveitis: Inflammation of the whole uvea. The uvea is the middle coat of the eye.
  • Papilledema: Swelling of the head of the optic nerve (optic disk) due to increased intracranial pressure.
  • Phacolytic Glaucoma: Phacolytic glaucoma (PG) is the sudden onset of open-angle glaucoma caused by a leaking mature or hypermature (rarely immature) cataract. It is a form of lens-induced open-angle glaucoma.
  • Phenylbutazone -- Teratogenic Agent: There is evidence to indicate that exposure to Phenylbutazone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Phosgene oxime -- eye exposure: Phosgen oxime has no useful purpose but may be manufactured for use as a chemical weapon. Eye exposure to the chemicals can cause potentially serious complications such as blindness. The severity of symptoms will vary depending on the extent and duration of the exposure.
  • Phosgene oxime exposure: Phosgene oxime has no useful purpose but may be manufactured for use as a chemical weapon. The chemical is poisonous and exposure can occur through ingestion, inhalation and absorption through the skin. Symptoms will vary depending on the method of exposure, degree of exposure and duration of exposure. The chemical can penetrate clothing.
  • Pigmentary retinopathy: An inherited eye disorder involving degeneration of the retina.
  • Pituitary Cancer: Cancer of the pituitary gland.
  • Plant poisoning -- Euphorbiaceae: Euphorbiaceae is a family of flowering plants called spurges. They contain various chemicals (alkaloids, glycosides and diterpene ester) which can cause symptoms if ingested.
  • Posterior column ataxia with retinitis pigmentosa: A very rare syndrome characterized mainly by progressive ataxia and eye degeneration resulting in blindness by the third decade as well as muscle problems.
  • Posterior vitreous detachment: Detachment of the eye's internal jelly vitreous from the rear of the eye
  • Pregnancy toxemia /hypertension: Preeclampsia is the development of high blood pressure, excess protein in the urine and swelling during pregnancy. Hypertension is a serious health condition due to the fact that it often causes no symptoms until it is severe. The blood pressure usually returns to normal after delivery.
  • Primary glaucoma, congenital: Glaucoma that is present at birth. Glaucoma is an eye condition where the pressure inside the eyeball is increased which can cause progressive vision problems. It may be a result of drainage structure abnormalities within the eye.
  • Primary open angle glaucoma: POAG is characterized by increase in the intraocular pressure due to trabecular blockage.
  • Prochlorperazine -- Teratogenic Agent: There is evidence to indicate that exposure to Prochlorperazine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Pyle disease: A rare genetic disorder characterized by numerous bone abnormalities as well as loss of vision and hearing.
  • Pyruvate decarboxylase deficiency: A rare genetic disorder involving an enzyme (pyruvate decarboxylase) deficiency which results in symptoms such as failure to thrive, psychomotor retardation, small head, eye problems, increased blood ammonia levels and lactic acidosis which can result in infant death in severe cases.
  • Quinidine -- Teratogenic Agent: There is evidence to indicate that exposure to Quinidine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Refsum Disease: A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
  • Refsum disease with increased pipecolic acidemia: A rare disorder involving all the clinical features of Refsum disease as well as high blood levels of L-pipecolic acid. Refsum disease is a metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
  • Renal tubulopathy -- diabetes mellitus -- cerebellar ataxia: A very rare condition characterized by rapidly progressive diabetes, kidney disease and cerebellar ataxia. Symptoms develop during the first five years.
  • Retinal degeneration: A group of disorders involving degeneration of the retina. Retinitis pigmentosa and macular degeneration are examples. The disorder is usually inherited.
  • Retinal detachment: Partial or total detachment of retina from the back of the eye.
  • Retinitis Pigmentosa: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss.
  • Retinitis Pigmentosa 10: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 10 is linked to a genetic defect on chromosome 7q31.3-q32.
  • Retinitis Pigmentosa 11: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 11 is linked to a genetic defect on chromosome 19q13.4.
  • Retinitis Pigmentosa 12: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 12 is linked to a genetic defect on chromosome 1q31-q32.1.
  • Retinitis Pigmentosa 13: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 13 is linked to a genetic defect on chromosome 17p13.3.
  • Retinitis Pigmentosa 14: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 14 is linked to a genetic defect on chromosome 6p21.3.
  • Retinitis Pigmentosa 17: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 17 is linked to a genetic defect on chromosome 17q23.
  • Retinitis Pigmentosa 18: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 18 is linked to a genetic defect on chromosome 1q21.2.
  • Retinitis Pigmentosa 19: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 19 is linked to a genetic defect on chromosome 1p21-p13.
  • Retinitis Pigmentosa 2: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 2 is linked to a genetic defect on chromosome Xp11.3.
  • Retinitis Pigmentosa 20: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 20 is linked to a genetic defect on chromosome 1p31.
  • Retinitis Pigmentosa 22: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 22 is linked to a genetic defect on chromosome 16p12.3-p12.1.
  • Retinitis Pigmentosa 23: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 23 is linked to a genetic defect on chromosome Xp22.
  • Retinitis Pigmentosa 24: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 24 is linked to a genetic defect on chromosome Xq26-q27.
  • Retinitis Pigmentosa 25: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 25 is linked to a genetic defect on chromosome 6q12.
  • Retinitis Pigmentosa 26: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 26 is linked to a genetic defect on chromosome 2q31.2-q32.3.
  • Retinitis Pigmentosa 28: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 28 is linked to a genetic defect on chromosome 2p15-p11.
  • Retinitis Pigmentosa 30: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 30 is linked to a genetic defect on chromosome 17q25.
  • Retinitis Pigmentosa 31: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 31 is linked to a genetic defect on chromosome 9p21.
  • Retinitis Pigmentosa 32: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 32 is linked to a genetic defect on chromosome 1p21.3-p13.3.
  • Retinitis Pigmentosa 33: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 33 is linked to a genetic defect on chromosome 2q11.2.
  • Retinitis Pigmentosa 34: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 34 is linked to a genetic defect on chromosome Xq28.
  • Retinitis Pigmentosa 35: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 35 is linked to a genetic defect on chromosome 1q22.
  • Retinitis Pigmentosa 36: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 36 is linked to a genetic defect on chromosome 17q22.
  • Retinitis Pigmentosa 37: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 37 is linked to a genetic defect on chromosome 15q23.
  • Retinitis Pigmentosa 38: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 38 is linked to a genetic defect on chromosome 2q14.1.
  • Retinitis Pigmentosa 39: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 39 is linked to a genetic defect on chromosome 1q41.
  • Retinitis Pigmentosa 4: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 4 is linked to a genetic defect on chromosome 3q21-q24.
  • Retinitis Pigmentosa 40: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 40 is linked to a genetic defect on chromosome 4p16.3.
  • Retinitis Pigmentosa 41: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 41 is linked to a genetic defect on chromosome 4p15.3.
  • Retinitis Pigmentosa 42: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 42 is linked to a genetic defect on chromosome 7p15.3.
  • Retinitis Pigmentosa 43: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 43 is linked to a genetic defect on chromosome 5q31.2-q34.
  • Retinitis Pigmentosa 44: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 44 is linked to a genetic defect on chromosome 10q23.
  • Retinitis Pigmentosa 45: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 45 is linked to a genetic defect on chromosome 16q13.
  • Retinitis Pigmentosa 46: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa.
  • Retinitis Pigmentosa 47: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 47 is linked to a genetic defect on chromosome 2q37.1.
  • Retinitis Pigmentosa 48: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 48 is linked to a genetic defect on chromosome 6p21.1.
  • Retinitis Pigmentosa 49: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 49 is linked to a genetic defect on chromosome 4p12-cen.
  • Retinitis Pigmentosa 6: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 6 is linked to a genetic defect on chromosome Xp21.3-p21.2.
  • Retinitis Pigmentosa 7: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 7 is linked to a genetic defect on chromosome 6p21.1.
  • Retinitis Pigmentosa 9: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 9 is linked to a genetic defect on chromosome 7p14.2.
  • Retinitis pigmentosa 1: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 1 is linked to a genetic defect on chromosome 8q11-q13.
  • Retinitis pigmentosa 27: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 27 is linked to a genetic defect on chromosome 14q11.1-q11.2.
  • Retinitis pigmentosa 29: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss. There are a large number of genes linked to retinitis pigmentosa. Type 29 is linked to a genetic defect on chromosome 4q32-q34.
  • Retinitis punctata albescens: A rare genetic eye disease which causes flecks in the retina.
  • Retinopathy: Eye retina condition
  • Retinopathy of prematurity: Eye problems that occur in premature underweight infants who are exposed to a high oxygen environment.
  • Retinoschisis: A rare inherited or acquired condition where the retina separates into two layers resulting in progressive vision loss.
  • Retinoschisis, Juvenile, X-Linked: An inherited eye condition where degenerative changes in the eye causes the retina to split. The severity and age of onset of symptoms can vary.
  • Retinoschisis, X-linked: A rare congenital eye disorder inherited in a X-linked manner. It is characterized by the separation of the retina into two layers which results in progressive vision loss. Though close examination may show signs of the condition, symptoms such as noticeable vision impairment generally don't become evident until middle age.
  • Retinoschisis, juvenile: An inherited eye condition where degenerative changes in the eye causes the retina to split. The severity and age of onset of symptoms can vary.
  • Rhinocerebral mucormycosis: A rare opportunistic infection that tends to occur mainly in the brain and sinuses. The condition is usually fatal and generally only affects immunocompromised people such as patients with leukemia, lymphoma or those that have had organ transplants or chemotherapy. The infectious agent is saprophytic fungi.
  • Rhinocerebral zygomycosis: An infectious disease caused by fungus from the orders Mucorales and Entomophthorales which are normally found in the soil and in decaying plant matter. The infection differs from mucormycosis which only involves the order Mucorales. Transmission is usually through the inhalation of spores. It is generally harmless to healthy individuals but can cause infection in patients who are immunocompromised or who have a serious chronic illness such as uncontrolled diabetes. Symptoms and severity can vary considerable depending on the part of the body the infection occurs in - gastrointestinal tract, skin, lungs, central nervous system, eye orbit and the paranasal sinuses. Rhinocerebral zygomycosis involves infection of the paranasal sinuses and the central nervous system.
  • Rieger Syndrome: A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities.
  • Rieger syndrome 2: A rare disorder where abnormal development of the front portion of the eye causes glaucoma and impaired vision. Other abnormalities are also present.
  • Rift Valley Fever: Mosquito-borne viral infection affecting animals and humans
  • River Blindness: Skin and eye infection caused by the helminth (worm) 'Onchocerca volvulus', transmitted via fly bites and usually seen only in parts of Africa, the Middle East and South America
  • Roberts syndrome: A very rare genetic disorder involving a range of physical abnormalities.
  • Sandhoff Disease: An inherited biochemical disorder involving a deficiency of the enzyme called hexosaminidase A&B which results in the harmful accumulation of chemicals in the central nervous system and other body tissues.
  • Sarcoidosis: Rare autoimmune disease usually affecting the lungs.
  • Sclerosteosis: A rare genetic disorder characterized by syndactyly and thickening and overgrowth of bone.
  • Senior-Loken Syndrome: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease.
  • Senior-Loken syndrome 1: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 1 is caused by a chromosomal defect on chromosome 2q13. End stage kidney disease usually occurs early in the second decade.
  • Senior-Loken syndrome 3: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 3 is caused by a chromosomal defect on chromosome 3q22. This form generally has an early onset.
  • Senior-Loken syndrome 4: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 4 is caused by a chromosomal defect on chromosome 1p36.
  • Senior-Loken syndrome 5: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 5 is caused by a chromosomal defect on chromosome 3q21.1. This form generally has a later onset.
  • Senior-Loken syndrome 6: A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 6 is caused by a chromosomal defect on chromosome 12q21.3. End stage kidney disease usually occurs early in the second decade and vision impairment occurs by 3 years of age.
  • Senter syndrome: A rare genetic ectodermal disorder characterized by ichthyosiform erythroderma and sensorineural deafness.
  • Septo-Optic Dysplasia: A rare birth defect characterized by impaired vision and pituitary deficiency.
  • Shingles: Infectious viral infection occuring years after chickenpox infection.
  • Sialidosis type 1 and 3: A rare inherited biochemical disorder involving the deficiency of an enzyme (alpha-N-acetylneuraminidase) which results in the harmful accumulation of certain chemicals (sialyloligosaccharides and sialylglycopeptides) in various body tissues.
  • Sialidosis type I: An inherited metabolic disorder where a defect in the enzyme alpha-neuraminidase prevents glycoproteins being metabolized - a milder form of the condition than sialidosis type II.
  • Sialidosis type II: A very rare inherited metabolic disorder where a defect in the enzyme alpha-neuraminidase prevents glycoproteins being metabolized - a severe form of Sialidosis type I.
  • Sickle Cell Anemia: Sickle cell anemia is an inherited blood disorder characterized by red blood cells which are crescent-shaped rather than the normal doughnut shape. These abnormally shaped red blood cells are unable to function normally and tend to undergo premature destruction which leads to anemia. If the genetic defect which causes the condition is inherited from both parents the condition can be quite severe whereas if it is inherited from only one parent, often there are no symptoms. The abnormally shaped red blood cells can cause problems when they clump together and block blood vessels.
  • Simell-Takki syndrome: A rare genetic disorder involving an enzyme deficiency that results in accumulation of ornithine which is toxic to the eye.
  • Sjogren's Syndrome: Autoimmune disease damaging the eye tear ducts and other glands.
  • Spherophakia brachymorphia syndrome: A rare genetic disorder characterized by short stature, and craniofacial, eye, tooth and limb abnormalities.
  • Steroid induced glaucoma.: Steroid-induced glaucoma is a form of open-angle glaucoma that has potential to cause the elevation of intraocular pressure (IOP) which may develop with inhaled, oral, topical intravenous, periocular, or intravitreal steroid administration.
  • Stickler Syndrome: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities.
  • Stickler Syndrome, type I: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 1 is caused by a genetic defect on chromosome 12q13.11-q13.2
  • Stickler Syndrome, type II: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 2 is caused by a genetic defect on chromosome 1p21
  • Striped Blister Beetle poisoning: The striped blister beetle is native to many parts of America and Canada. Animals that accidentally eat the beetles can become quite ill and they can also cause symptoms in humans if accidentally ingested. The beetles contain toxic substances called cantharidin and pederin which can cause symptoms through skin or eye exposure as well as through ingestion.
  • Stroke: Serious brain event from bleeding or blood clots.
  • Subacute Sclerosing Panencephalitis: A progressive neurological disorder involving inflammation of the brain caused by a complication of the measles virus. It can occur up to 10 years after the initial measles virus and may be due to a defective immune response to the virus or a reactivation of the virus.
  • Subacute myelo-optico neuropathy syndrome: A toxicity reaction to a drug called clioquinol which is an antifungal drug. The reaction primarily involves damage to certain nerves which can result in weakness, paralysis and blindness.
  • Superior orbital fissure syndrome: A neurological condition that can result from a fracture of the orbital fissure which is a cleft that lies behind the nose. The disorder that can also result from facial fractures, cavernous sinus infections or retrobulbar tumors or infections. Damage to the nerves that pass through the orbital fissure causes the symptoms.
  • Syphilis: A sexually transmitted disease caused by a bacteria (Treponema pallidum). The condition is often asymptomatic in the early stages but one or more sores may be present in the early stages. Untreated syphilis usually results in remission of visible symptoms but further severe damage may occur to internal organs and other body tissues which can result in death.
  • Takayasu arteritis: A rare disorder involving inflammation of large elastic arteries including the aorta which impairs blood flow to the upper body.
  • Tapetal-like reflex: A rare genetic eye disorder characterized by distinctive appearance of the macula which isn't associated with vision loss.
  • Tay Sachs: Rare genetic disease leading to fatty deposits in the brain.
  • Tay Sachs Disease: A condition which is causes GM2 gangliosidosis
  • Tay-Sachs disease -- juvenile onset: A rare inherited biochemical disorder involving the deficiency of an enzyme called Hexosaminidase A. There are two forms of the disease - juvenile and adult onset.
  • Temporal arteritis: Inflamed head artery causing headache.
  • Thalidomide -- Teratogenic Agent: There is evidence to indicate that exposure to Thalidomide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Thallium poisoning: The poisoning of a person with the element thallium
  • Thanos syndrome: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus).
  • Thanos-Stewart-Zonana Syndrome: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using aminoglycosides as they can have a negative impact on hearing.
  • Tolosa-Hunt Syndrome: A rare disorder characterized by severe headaches and paralysis and weakness of eye muscles.
  • Toxoplasmosis -- Teratogenic Agent: There is strong evidence to indicate that the development of Toxoplasmosis during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage of pregnancy that the exposure occurred at.
  • Trachoma: Chronic bacterial eye condition in the developing world
  • Transient ischaemic attack:
  • Traumatic Brain Injury: Brain injury from trauma or accident.
  • Tumor: Any type of lump or swelling (not just cancers)
  • Usher Syndrome: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss.
  • Usher Syndrome Type 1: A rare inherited disorder characterized by sensorineural deafness at birth or soon after and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood.
  • Usher Syndrome Type 2: A rare inherited disorder characterized by mild to moderate sensorineural deafness at birth and progressive vision loss which starts in late adolescence or early adulthood and blindness occurs after about 35 years of age. Symptoms are generally not as severe as in type I with deafness occurring from birth and vision loss starts during adolescence or later .
  • Usher syndrome, type 1B: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
  • Usher syndrome, type 1C: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 11p15.1.
  • Usher syndrome, type 1D: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 10q21-q22.
  • Usher syndrome, type 1E: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 21q21.
  • Usher syndrome, type 1F: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 10q21-q22.
  • Usher syndrome, type 1G: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 17q24-q25.
  • Usher syndrome, type 2A: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
  • Usher syndrome, type 2B: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
  • Usher syndrome, type 2C: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
  • Usher syndrome, type IIA: A rare inherited disorder characterized by mild to moderate sensorineural deafness at birth and progressive vision loss which starts in late adolescence or early adulthood and blindness occurs after about 35 years of age. Symptoms are generally not as severe as in type I with deafness occurring from birth and vision loss starts during adolescence or later. The defect occurs on chromosome 1q41.
  • Usher syndrome, type IIB: A rare inherited disorder characterized by mild to moderate sensorineural deafness at birth and progressive vision loss which starts in late adolescence or early adulthood and blindness occurs after about 35 years of age. Symptoms are generally not as severe as in type I with deafness occurring from birth and vision loss starts during adolescence or later. The defect occurs on chromosome 3p24.2-p23.
  • Usher syndrome, type IIC: A rare inherited disorder characterized by mild to moderate sensorineural deafness at birth and progressive vision loss which starts in late adolescence or early adulthood and blindness occurs after about 35 years of age. Symptoms are generally not as severe as in type I with deafness occurring from birth and vision loss starts during adolescence or later. The defect occurs on chromosome 5q14.
  • Uveitis: A condition which is characterised by the inflammation of the uvea of the eye
  • Vasterbotten dystrophy: A genetic eye disease which occurs predominantly in a part of Sweden.
  • Vision Disorders: Any condition involving problems with vision. The three main types of vision disorders are farsightedness, nearsightedness and astigmatism.
  • Vision loss: Impaired vision or loss of vision
  • Visual disturbance: Any disturbance to ones vision
  • Vitamin A deficiency: Dietary deficiency of vitamin A
  • Vitreous detachment: Detachment of the eye's internal jelly vitreous from the rear or side of the eye
  • Vogt-Koyanagi-Harada Syndrome: A rare condition characterized by poliosis and hair, skin, eye and ear abnormalities as well as retinal detachment and neurological involvement.
  • Von Hippel-Lindau Disease: Genetic disease causing multiple benign tumors
  • WAGR Syndrome: A syndrome that is due to the deletion of chromosome 11.
  • Wagener syndrome: A disorder involving the association of hypertension, arteriosclerosis, thickened heart muscle and severe neuroretinitis.
  • Wagner-Stickler Syndrome: There is confusion about whether Wagner and Stickler disease are actually extremes of the same disorder and thus the term Wagner-Stickler syndrome is sometimes used. Both conditions involve varying degrees of degeneration of eye structures with Stickler syndrome also involving other variable symptoms such as deafness and facial, oral and skeletal abnormalities.
  • Wallenberg's Syndrome: A rare neurological condition caused by a stroke (involving the cerebellar artery) and resulting in symptoms such as facial paralysis or weakness on one side of body.
  • Weill-Marchesani Syndrome: A rare genetic disorder characterized by short stature and craniofacial, eye, tooth and limb abnormalities.
  • Wilms tumor -- aniridia -- genitourinary anomalies -- mental retardation: A syndrome resulting from deletion of genetic material from chromosome the short arm of chromosome 11 (11p13). The characteristic symptoms are partial or complete absence of iris, genitourinary anomalies, mental retardation and Wilms' tumor. The specific range and severity of symptoms is variable depending on the size and exact location of the genetic material that is missing.
  • Wittwer sydnrome: A syndrome that is characterised by the occurrence of growth retardation, blindness, hearing loss, dysmorphic features, epilepsy, mental retardation and the absence of speech
  • Wolfram Syndrome, Mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
  • Zygomycosis: An infectious disease caused by fungus from the orders Mucorales and Entomophthorales which are normally found in the soil and in decaying plant matter. The infection differs from mucormycosis which only involves the order Mucorales. Transmission is usually through the inhalation of spores. It is generally harmless to healthy individuals but can cause infection in patients who are immunocompromised or who have a serious chronic illness such as uncontrolled diabetes. Symptoms and severity can vary considerable depending on the part of the body the infection occurs in - gastrointestinal tract, skin, lungs, central nervous system, eye orbit and the paranasal sinuses.

 

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