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Diseases » Vision Impairment » Glossary
 

Glossary for Vision Impairment

  • 2-Hydroxyglutaricaciduria: A rare metabolic disorder characterized by high levels of a certain chemical (2-Hydroxyglutaric) which causes a serious progressive neurological disease and damage to the brain. The features of this disorder are variable and some cases are milder than others.
  • ADHD: Attention Deficit Hyperactivity Disorder (ADHD) is a mental and behavioral disorder characterized by behavioral problems such as hyperactivity, inattention, concentration difficulty, and other mental symptoms. Typically, ADHD and associated hyperactivity is known as a childhood disorder, although ADD/ADHD in adults is known to be under-diagnosed. It is distinguished from Attention Deficit Disorder (ADD) which has a reduced focus on hyperactivity type symptoms.
  • 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.
  • Adnexal and Skin Appendage Neoplasms: A type of tumour that develops on particular organs - eyes, skin and uterus. The tumors are usually benign but some may become malignant. The symptoms will vary depending on the location of the tumor and whether it is benign or malignant. These type of tumors tend to be most common in middle-aged women.
  • Agnathia-holoprosencephaly-situs inversus: A very rare disorder characterized by a small or absent jaw, developmental brain defect and internal organs situated on the wrong side of the body (situs inversus). The severity and range of symptoms is variable.
  • 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.
  • Amyloidosis, oculoleptomeningeal: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In this particular type, the amyloid deposits in the leptomeningeal blood vessels, brainstem, spinal cord and eye causing central nervous system dysfunction, brain hemorrhages and vision impairment.
  • 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.
  • Antithrombin Deficiency: Antithrombin deficiency refers the deficiency or impaired activity of a substance that inactivates enzymes involved in blood coagulation. Antithrombin prevents the blood from clotting too readily and if its activity is impaired then the blood becomes more prone to clotting which can result in severe problems. Severity of the condition can vary amongst patients and the symptoms can vary considerably depending on the location of blood clots and size of the blood clot.
  • Antithrombin Deficiency, type I: Type I Antithrombin deficiency refers the deficiency of a substance that inactivates enzymes involved in blood coagulation. Antithrombin prevents the blood from clotting too readily and if there are insufficient quantities of it then the blood becomes more prone to clotting which can result in severe problems. Severity of the condition can vary amongst patients and the symptoms can vary considerably depending on the location of blood clots and size of the blood clot. Type I may be inherited or acquired through such things as kidney or liver disease. Acquired cases tend to have a lower risk of blood clots compared to inherited cases.
  • Antithrombin Deficiency, type II: Type II Antithrombin deficiency refers the malfunction of a substance that inactivates enzymes involved in blood coagulation. Antithrombin prevents the blood from clotting too readily and if it is unable to function properly then the blood becomes more prone to clotting which can result in severe problems. Severity of the condition can vary amongst patients and the symptoms can vary considerably depending on the location of blood clots and size of the blood clot. Type II is an inherited condition.
  • Autoimmune Diseases of the Nervous System: A group of diseases where the body's immune system attacks it's own nervous system. Examples includes opsoclonus myoclonus syndrome, Guillain-Barre syndrome and multiple sclerosis. Symptoms vary depending on which nerves are involved.
  • 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.
  • Blindness: The inability to see out of the eyes
  • CDG syndrome type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Calcification of basal ganglia with or without hypocalcemia: Calcification of a part of the brain called the basal ganglia. That calcification may be associated with conditions such as hypothyroidism, cytomegalovirus, and AIDS or may occur for no apparent reason. The severity of the condition may vary greatly from asymptomatic to neurological, psychiatric and movement disorders. The disorder may also progress at variable rates or remain stable depending on the underlying disease process.
  • Camurati Engelmann disease, type 2: A rare disorder (described in two patients) which has similar symptoms to the genetic condition called Camurati Engelmann disease but the genetic defect responsible for type 1 is not present in type 2. Type 2 has additional bone abnormalities which were noted on radiographs. Patients tend to suffer flare-ups of their condition which is accompanied by severe pain which may leave the patient incapacitated. Flare-ups can be triggered or made worse by stress, exhaustion, exercise, growth spurts, standing too long, walking too long, infection, illness, injury, surgery, cold weather and sudden changes in air pressure.
  • 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.
  • Cerebral Aneurysm: Dangerous swelling of a brain blood vessel that may rupture.
  • Cerebral Atrophy: Wasting away of the brain.
  • Cerebrovascular accident: Occurs when the blood supply to the brain is interrupted and results in cell injury and death.
  • Ceroid lipofuscinosis, neuronal 4: 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 1) 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 poisoning -- Calcium hypochlorite: Calcium hypochlorite is a chemical used mainly in bleaching products, fungicides, algicides, disinfectants and deodorants. 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 -- Chloroform: Chloroform is a chemical used mainly as a refrigerant but also as a solvent in various processing and industrial applications. It's use as an anesthetic is relatively uncommon these days. 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 -- Cyclohexanone: Cyclohexanone is a chemical used mainly as an industrial solvent, in processes involving oxidative reactions and in the manufacture of certain resins, nylons, insecticides, herbicides, paints, varnish, polishes, degreasers and pharmaceuticals. 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 -- Furniture polish: Furniture polish contains chemicals (hydrocarbons) which can cause serious symptoms if ingested. The ingested chemicals can continue to cause damage to the organs and gastrointestinal lining for weeks after the ingestion and severe cases can result in death. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Lead-containing Paint: Lead pain contains lead as well as other harmful chemicals. The lead in the pain is toxic (especially to young children) and ingesting fresh or old paint can cause serious symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chiari-Frommel syndrome: A rare condition where galactorrhea and amenorrhea continues for an abnormal length of time (generally longer than 6 months) after giving birth.
  • Chromosome 1, 1p36 deletion syndrome: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The symptoms are variable depending on the exact location of chromosomal deletion.
  • Chromosome 14q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
  • Chromosome partial trisomy 22q11q13: A rare chromosomal disorder where a portion of chromosome 22 at the location q11-q13 is triplicated instead of resulting in various anomalies.
  • Congenital Disorders of Glycosylation Type Ia: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Congenital disorder of glycosylation type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Corneal Dystrophies: A group of various disorders affecting the eye's cornea
  • Crome syndrome: A very rare disorder characterized by various abnormalities including mental retardation, epilepsy and eye and kidney problems.
  • Dementia: Various mental impairment conditions.
  • Dermatoosteolysis, Kirghizian type: A rare condition characterized by a variety of abnormalities including missing teeth, recurring skin ulceration, eye problems and nail symptoms.
  • 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.
  • Endodermal sinus tumor: A form of malignant germ cell tumor that occurs mainly in young children. They can occur in the testis, ovaries, uterus, abdomen, thorax, tailbone region, vagina, liver, retroperitoneum and pineal ventricle of the brain. Symptoms will vary depending on the exact location of the tumor.
  • Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
  • Eye conditions: Any condition that affects the eyes
  • Facioscapulohumeral Muscular Dystrophy -- Sensorineural Hearing Loss: A rare condition characterized by hearing impairment and muscle wasting in the facial and shoulder muscles. The rate of progression and severity of the condition is quite variable.
  • Falls: When a person losses balance and falls over
  • Familial Granulomatosis, Blau type: A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions.
  • Familial, Systemic, Juvenile Granulomatosis: A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions.
  • Fish-eye disease: A familial disorder involving corneal opacities and low HDL cholesterol levels. It occurs as a result of an enzyme (lecithin:cholesterol acyltransferase) deficiency.
  • Galactokinase deficiency: A rare condition where an enzyme deficiency (galactokinase) impaires the body's ability to break down galactose consumed in the diet.
  • Granulomatous arthritis of childhood: A rare chronic inflammatory condition that starts during early childhood and is characterized by arthritic joints, uveitis and a skin rash that forms on the trunk and limbs.
  • HERNS syndrome: A rare inherited syndrome characterized by blood vessel disease which causes eye and kidney disease and strokes. Neurological manifestations tend to occur around the 2nd and 3rd decade of life due to the blood vessels in the brain being affected.
  • Hallervorden-Spatz Syndrome: A syndrome in which the nerve fibers which connect the striatum to the globus pallidus are completely demyelinated
  • Hallervorden-Spatz disease: Nerve disorder causing movement problems.
  • Head Conditions: Conditions that affect the head
  • Hemianopia: Loss of half vision in both eyes
  • Hemoglobin SC: A genetic blood disorder where the patient inherits a gene for hemoglobin S from one parent and hemoglobin C from another. Severity of symptoms is variable.
  • Hurler syndrome:
  • Hydranencephaly: A very rare condition where fluid replaces a portion of the brain.
  • Hyphema: Bleeding between cornea and iris in the eye
  • Increased intracranial pressure: Increased pressure inside the skull due to brain swelling or fluid accumulation
  • Infantile Refsum Disease: Genetic disease affecting nerve and muscle control.
  • Intracranial germ cell tumour: A brain tumor that arises from germ (sex) cells. This type of tumor tends to occur in patients under the age of 30, usually in the second decade. Symptoms depend on the size, exact location and rate of growth of the tumor.
  • Joubert Syndrome 1: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 1 is linked to a defect on chromosome 9q34.3.
  • Joubert Syndrome 10: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 10 is linked to a defect on chromosome Xp22.3.
  • Joubert Syndrome 2: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 2 is linked to a defect on chromosome 11p12-q13.3.
  • Joubert Syndrome 3: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 3 is linked to a defect on chromosome 6q23.3.
  • Joubert Syndrome 4: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 4 is linked to a defect on chromosome 2q13.
  • Joubert Syndrome 5: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 5 is linked to a defect on chromosome 12q21.3.
  • Joubert Syndrome 6: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 6 is linked to a defect on chromosome 8q21.13-q22.1.
  • Joubert Syndrome 7: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 7 is linked to a defect on chromosome 16q12.2.
  • Joubert Syndrome 8: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 8 is linked to a defect on chromosome 3q11.2.
  • Joubert Syndrome 9: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 9 is linked to a defect on chromosome 4p15.3.
  • Juvenile macular degeneration, hypotrichosis: A very rare syndrome characterized mainly by hair loss and eye degeneration.
  • Kuf Disease:
  • Lecithin-cholesterol acyltransferase deficiency, LCAT: A rare genetic disorder characterized by an enzyme deficiency (lecithin:cholesterol acyltransferase) which impairs the breakdown of lipoproteins which then builds up and causes damage to tissues. The condition is characterized by corneal disorders, anemia, protein in the urine and ultimately, kidney failure. Partial deficiency of the enzyme (alpha-LCAT) results in a condition called Fish-Eye disease whereas deficiency of the whole enzyme (alpha- and beta-LCAT) causes a condition called Norum disease.
  • 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.
  • Megalocornea mental retardation syndrome: A very rare genetic disorder characterized by reduced muscle tone from birth, mental retardation to varying degrees and eye abnormalities. The type and severity of symptoms is variable
  • Methanol poisoning: Excessive ingestion of methanol. Methanol can be found in fuel, solvents and paint products.
  • Microcephaly, hiatal hernia and nephrotic syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease.
  • Migraine: Chronic recurring headaches with or without a preceding aura.
  • Mohr-Tranebjaerg syndrome: A very rare syndrome characterized mainly by nerve degeneration. Deafness usually occurs early in life.
  • Monosomy 1p36: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The range and severity of symptoms is variable with some cases being relatively mild.
  • Motor and Sensory Neuropathy, Optic Atrophy and Sensorineural Hearing Loss: A very rare inherited condition characterized by vision and hearing impairment and muscle and sensory problems. Hearing impairment is progressive and usually starts in early childhood.
  • Mucopolysaccharidosis type I Hurler syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down. There are three main sub-types of the disorder: Hurler - severe form, Scheie - mild form and Hurler/Scheie form which is intermediate.
  • Mucopolysaccharidosis type I Scheie syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-iduronidase) needed to break it down.
  • N syndrome: A rare genetic disorder characterized by mental and physical retardation, eye abnormalities, retarded growth, hearing impairment and a high risk of developing cancers, particularly leukemia. It is an extremely rare condition originally described in two brothers.
  • Nephrosis neuronal dysmigration Syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease. The type and severity of symptoms that can occur is variable.
  • Neurodegeneration With Brain Iron Accumulation 2: A rare, inherited, progressive neurological movement disorder where accumulation of iron in the brain causes degeneration of the nervous system. Type 2 is linked to a defect in the PLA2G6 gene on chromosome 22q13.1.
  • Norum disease: A rare genetic disorder disorder involving abnormal lipid metabolism due to a deficiency of an enzyme called lecithin:cholesterol acyltransferase. The condition causes high levels of cholesterol, triglycerides and phospholipids. The condition is not associated with an increased risk of cardiovascular disease.
  • 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.
  • Osteopetrosis, autosomal recessive 4: 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. The malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
  • Pantothenate kinase-associated neurodegeneration: A rare, inherited, progressive neurological movement disorder where accumulation of iron in the brain causes degeneration of the nervous system.
  • Papilledema: Swelling of the head of the optic nerve (optic disk) due to increased intracranial pressure.
  • Pediatric granulomatous arthritis: A rare chronic inflammatory condition that starts during early childhood and is characterized by arthritic joints, uveitis and a skin rash that forms on the trunk and limbs.
  • Progressive Supranuclear Palsy: A disorder characterized by reduced motor control, dementia and eye movement problems.
  • Proximal tubulopathy -- diabetes mellitus -- cerebellar ataxia: A very rare syndrome characterized mainly by diabetes, movement disorder and kidney abnormality. Death often occurs during childhood.
  • Pterygium of the conjunctiva: A very rare disorder where an abnormal membrane of tissue grows from the conjunctiva of the eye. The membrane can cover a part of the eye and impair vision.
  • 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.
  • Retinopathy: Eye retina condition
  • Retinopathy of prematurity: Eye problems that occur in premature underweight infants who are exposed to a high oxygen environment.
  • Retinopathy pigmentary mental retardation: A rare genetic condition characterized by degeneration of retinal pigments, cataracts, small head and mental retardation.
  • Retinopathy, arteriosclerotic: Changes in the retina that occurs because of arteriosclerosis which involves hardening of the arteries.
  • Sabouraud syndrome: A rare inherited disorder involving thin, dry, brittle hair which has a tendency to break off easily.
  • Schilder's Disease: Rare nerve myelin condition.
  • Schindler disease: Schindler disease is a rare congenital metabolic disorder involving a deficiency of a particular enzyme (alpha-N-acetylgalactosaminidase) which results in a buildup of glycoproteins in the body. The condition originates from a genetic mutation and is an inherited disorder. There are three main types of this condition, each with varying severity. The most severe form usually results in death within a few years of birth whereas the mild form doesn't cause symptoms until after the age of 30. The type and severity of symptoms varies depending on which form of the disease is involved.
  • Schindler disease, type 1: Schindler disease is a rare congenital metabolic disorder involving a deficiency of a particular enzyme (alpha-N-acetylgalactosaminidase) which results in a buildup of glycoproteins in the body. The condition originates from a genetic mutation and is an inherited disorder. There are three main types of this condition, each with varying severity. Type 1 is an infantile form and is the most severe form. It usually results in death within a few years of birth.
  • Senile Retinoschisis: Retinoschisis is medical term for splitting of the retina. In senile retinoschisis, the problem occurs with old age and rarely causes severe vision impairment. It can occur in males or females.
  • 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.
  • Small syndrome: A rare genetic disease characterized by deafness, muscle weakness and wasting, mental retardation and eye disorders.
  • Spastic paraparesis deafness: A syndrome that is characterized with spastic paraparesis and deafness.
  • Spastic tetraplegic -- cerebral palsy: A rare disorder characterized by the association of spasticity (muscle tightness of the arms and legs as well as cerebral palsy.
  • Spondylo-ocular syndrome: A rare, recessively inherited syndrome characterized mainly by eye and spinal abnormalities.
  • Synovitis granulomatous with uveitis and cranial neuropathies: A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions.
  • Transient ischaemic attack:
  • Transthyretin amyloidosis: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage. In the transthyretin form, the amyloid protein consists of transthretin. The condition is characterized by slo-progressing peripheral sensorimotor and autonomic neuropathy, kidney disease and heart disease. Abnormal amyloid deposits may also occur in the eyes and central nervous system. There are a number of subtypes of the disorder: familial oculoleptomeningeal amyloidosis, familial amyloid polyneuropathy and familial amyloid cardiomypathy as well as others. Neuropathic symptoms tend to start in the legs. Symptoms may vary depending on which parts of the body are affected.
  • Trichosporon: A genus of fungi that are normal flora of the respiratory and digestive tract
  • Usher Syndrome: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss.
  • Usher Syndrome 1H: 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.
  • Vascular retinopathies: A group of conditions which affect the eyes due to vascular diseases
  • 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
  • Winchester Syndrome: A very rare condition involving destruction of bone in the ankle, wrists and elbows as well as eye, teeth and joint abnormalities.
  • Zunich neuroectodermal syndrome: A very rare genetic syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation and ear defects.

 

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