Glossary for Optic atrophy

Medical terms related to Optic atrophy or mentioned in this section include:

• 3-methylglutaconic aciduria, type 1: A recessively inherited metabolic disorder characterized by methylglutaconic acid in the urine.
• 3-methylglutaconic aciduria, type V: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid.
• 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.
• Achalasia -- adrenal -- alacrima syndrome: A familial disorder characterized by adrenal gland-related hormonal problems, swallowing difficulty (achalasia) and a lack of tears (alacrima). Neurological impairment and motor and sensory neuropathy is progressive. The adrenal glands in patients are resistant to the ACTH hormone and hence fails to operate normally.
• Acrocallosal syndrome: A rare genetic disorder characterized by underdeveloped or absent corpus callosum of brain, duplication of thumb or big toe and extra fingers or toes.
• Acrocephalopolysyndactyly, type 2 (ACPS 2): A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
• Acrocephalosyndactyly type 3 (ACPS 3): A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
• Adenoma: A tumor derived from the epithelial cells from a gland.
• Al Gazali -- Nair syndrome: A very rare syndrome characterized by bone abnormalities, eye problems, seizures and developmental delay. The reported cases involved related parents.
• Al Gazali-Khidr-Prem Chandran: A very rare syndrome characterized mainly by short stature, eye problems and an unusual cherubic facial appearance.
• Al Gazali-Khidr-Prem Chandran syndrome:
• Albers-Schonberg disease -- Adult benign dominant form: 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 adult benign form is associated with a normal life expectancy and is often asymptomatic.
• Albers-Schonberg disease -- intermediate form: 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 intermediate form is more severe than the adult form but less severe than the infantile form. Life expectancy is usually normal.
• Albers-Schonberg disease -- malignant recessive form: 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.
• Alpers Syndrome: A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation.
• Ameloblastoma: A congenital tumor of the pituitary gland. Also called craniopharyngioma, craniopharyngeal duct tumor, pituitary adamantinoma or Rathke's pouch tumor.
• Arteriosclerosis: A group of medical conditions which are characterized by the thickening and loss of elasticity of arterial blood vessel walls
• Autosomal Dominant Genetic Diseases: Any conditions that are related to any non-sex-determining chromosome
• Autosomal Recessive Genetic Diseases: Any conditions that are related to any non-sex-determining chromosome
• Behr syndrome: A rare inherited neurological condition characterized by spastic paraplegia and sometimes optic atrophy.
• Beriberi: Disease due to vitamin B1 deficiency (thiamine)
• Berk-Tabatznik syndrome: A rare condition characterized by eye and skeletal problems.
• Blue Diaper Syndrome: A rare metabolic disorder characterized by vision problems, bluish urine, fever and digestive anomalies.
• Blurred vision: Blurriness of vision or images.
• Brain conditions: Medical conditions that affect the brain
• 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.
• 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.
• Carpenter syndrome: A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
• Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss: A rare syndrome characterized mainly by ataxia, absent reflexes, high foot arch (pes cavus), progressive optic nerve degeneration and hearing impairment. The ataxic symptoms tended to occur early in life after an illness involving fevers. The ataxia then tends to come and go but then persists into adulthood.
• Cerebellar ataxia, autosomal recessive: A group of rare, recessively inherited neurological disorders caused by abnormalities in the cerebellum and spinal cord. In some cases other parts of the body may be affected.
• Cerebellar atrophy with progressive microcephaly: A very rare disorder characterized mainly by a small brain, small head, underdeveloped brain, brain degeneration, contractures, eye problems and seizures.
• 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.
• Ceroid lipofuscinosis, neuronal 2, late infantile type: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (protease tri-peptidyl-peptidase) needed to process it.
• Ceroid lipofuscinosis, neuronal 3, Juvenile: A progressive genetic disorder where defective lipid metabolism that causes blindness, neurological deterioration, dementia leading to total incapication within years and death within 10-15 years.
• 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.
• Charcot-Marie-Tooth disease, X-linked recessive, 5: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X5 is an inherited defect of the X chromosome and affects males to a greater degree than females. In addition to normal CMT symptoms it also involves deafness and eye problems.
• 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 12p deletion: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 12p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities.
• Chromosome 21 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.
• Chromosome 6 Ring: A rare chromosomal disorder where the ends of chromosome 6 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
• Chromosome 6 ring syndrome: A rare chromosomal disorder where the ends of chromosome 6 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
• Cockayne syndrome: A rare genetic disorder characterized by a senile-like appearance, hearing and vision impairment and sun sensitive skin.
• Cohen Syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth.
• Congenital disorder of glycosylation type 1/IIX: 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 I/IIX refers to cases where the specific abnormality cannot be determined.
• Congenital disorder of glycosylation type 1D: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1D has a ?1,3-Mannosyl transferase enzyme defect.
• Congenital syphilis: Syphilis inherited from mother during pregnancy.
• Corpus callosum agenesis-neuropathy: A rare genetic disorder involving mental retardation, progressive neuropathy and absence of the fibers that connect the two halves of the brain together.
• Craniofacial dysostosis type 1: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include poor vision, hypoplasia of maxilla an impaired hearing.
• 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.
• Crouzon Syndrome: A condition which is characterized by craniofacial dysostosis
• DIDMOAD Syndrome, Mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
• Decreased folate: Decrease in one of the B vitamins required for red blood cell production
• Del (2) (q35-q36.2): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree.
• Del(1) (pter-p36.2): A very rare chromosomal disorder where the end portion of the short arm of chromosome one is missing. The type and severity of symptoms is variable.
• 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.
• Devic disease: A rare nerve disorder involving demyelination of spinal cord and eye nerves.
• Diabetes insipidus, diabetes mellitus, optic atrophy: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
• 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.
• Diencephalic Syndrome: A condition characterized by dysfunction of the diencphalon of the brain
• Dup (2) (q33-qter) and del (9) (pter-p24): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
• Dyck Syndrome: A very rare condition observe in two brothers. It involves vision, hearing, muscle, sensory and adrenal system problems and an enlarged liver and spleen.
• Eccentrochondrodysplasia: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down.
• Ehlers danlos syndrome: An inherited disorder of the connective tissue causing it to become weak and fragile. Connective tissue is found in skin, muscles, tendons and ligaments and hence all of these may be affected by weakness
• Ehlers-Danlos syndrome: An inherited disorder of the connective tissue causing it to become weak and fragile. Connective tissue is found in skin, muscles, tendons and ligaments and hence all of these may be affected by weakness
• Encephalopathy progressive -- optic atrophy: A rare birth disorder characterized by progressive brain disease, facial anomalies and eye problems.
• Eye symptoms: Symptoms affecting the eye
• Face symptoms: Symptoms affecting the face
• Fahr's Syndrome: A rare neurologic disorder where calcium is deposited in various parts of the brain resulting in progressive loss of motor and mental function.
• 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.
• Filippi Syndrome: A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features.
• Folate deficiency: Decrease in one of the B vitamins required for red blood cell production
• Friedreich's ataxia: Progressive muscle weakness from nerve damage.
• GAPO syndrome: A rare condition characterized by retarded growth, alopecia, otpic atrophy and failure of teeth to erupt.
• 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.
• 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.
• Gangliosidosis, generalized GM1 type 2: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase 1) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I. Death can occur early in life in severe cases but milder cases can survive into late childhood.
• Glaucoma: A condition which affects the eye and characterized by an increase in the intraocular pressure
• Glycine encephalopathy, classical neonatal form: A rare disorder of amino acid metabolism where glycine are unable to be metabolized properly due to defects in the glycine cleavage system.
• Glycine encephalopathy, classical neonatal late-onset form: A rare disorder of amino acid metabolism where glycine are unable to be metabolized properly due to defects in the glycine cleavage system. The late onset classical neonatal form usually starts during childhood.
• Gustavson syndrome: A very rare condition characterized by features such as mental retardation, spasticity, seizures and eye and ear problems.
• Hagemoser Weinstein Bresnick syndrome: A very rare syndrome characterized mainly by deafness, neuropathy and vision problems.
• Hajdu-Cheney Syndrome: A rare genetic disorder characterized by early tooth loss, relaxed joints, small stature and bone abnormalities.
• Head symptoms: Symptoms affecting the head or brain
• Henoch-Schonlein purpura: A form of vasculitis (blood vessel inflammation) that affects blood capillaries and affects mostly the skin, kidneys, joints and stomach.
• 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.
• Hydrocephalus: A condition which is characterized by marked dilatation of the cerebral ventricles
• Hyperostosis corticalis generalisata: A rare genetic disorder characterized by increased thickening of the bones in the skull, jaw, collar bone, ribs and the main shaft of long bones. The thickening of the bones may compress some nerves resulting in vision and hearing impairment.
• Incontinentia Pigmenti: A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency.
• Increased intracranial pressure: Increased pressure inside the skull due to brain swelling or fluid accumulation
• Injury: Any damage inflicted in the body
• 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.
• Jequier-Deonna Syndrome: A very rare condition described in two sisters. It is characterized by vision and hearing problems and incoordination.
• Kennedy Syndrome: A rare eye disorder involving the association of optic atrophy (loss of optic nerves) and scotoma (blind spot in vision) in one eye and papilledema (swelling of the optic disc) in the other. It is often associated with a tumor in the optic nerve or frontal lobe of the brain. Various other symptoms may also be associated with the condition depending on the cause.
• Konigsmark-Knox-Hussels syndrome: A very rare syndrome characterized mainly by deafness and optic atrophy.
• 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.
• Kuf Disease:
• Leber optic atrophy: An inherited biochemical disorder due to mitochondrial mutation.
• Leukoencephalopathy -- metaphyseal chondrodysplasia: A rare syndrome characterized by brain disease and abnormal skeletal development.
• Lundberg I: A rare inherited disorder characterized by damage to the eye and a reduced ability to control movements as well as foot problems.
• Lymphedema, microcephaly and chorioretinopathy syndrome: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
• Lymphoedema -- Microcephaly -- Chorioretinopathy Syndrome: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
• Lymphoedema -- Microcephaly -- chorioretinopathy: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
• MLCRD Syndrome: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
• Marsden syndrome: A rare disorder characterized by loss of vision and dystonia. It is believed to be a variant of Leber's atrophy associated with dystonia.
• Meningioma: A slow-growing tumor of the meninges that is not cancerous. Symptoms are determined by the size and location of the tumor.
• 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.
• Metabolic disorder: occurs when abnormal chemical reactions occur in the body
• 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.
• Micrencephaly corpus callosum agenesis: A very rare disorder characterized by abnormal brain development which results in a very small brain. Patients may die during infancy and survivors suffer mental retardation and other physical abnormalities.
• Microcephaly -- chorioretinopathy, recessive form: A rare, recessively inherited disorder characterized by an abnormally small head and eye problems.
• Microcephaly -- lymphoedema -- Chorioretinopathy Dysplasia Syndrome: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
• Microcephaly -- lymphoedema -- chorioretinopathy: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
• Microcephaly, hiatal hernia and nephrotic syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease.
• Mohr-Tranebjaerg syndrome: A very rare syndrome characterized mainly by nerve degeneration. Deafness usually occurs early in life.
• Movement symptoms: Changes to movement or motor abilities
• Mucopolysaccharidoses: A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans
• Multiple Sclerosis: Autoimmune attack on spinal nerves causing diverse and varying neural problems.
• Muscle atrophy: Decrease in size and bulk of muscle.
• Muscle symptoms: Symptoms affecting the muscles of the body
• Musculoskeletal symptoms: Symptoms affecting muscles or bones of the skeleton.
• Myoclonus with epilepsy with ragged red fibers: A rare disorder of mitochondrial metabolism characterized by myoclonic epilepsy and ragged-red muscle fibers. Mitochondria are the part of the body cells that produce energy.
• Naegeli syndrome: An inherited skin disorder characterized by reticulated pigmentation on the skin. The skin on palms and soles may thicken and ability to sweat may be reduced.
• 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.
• Nerve symptoms: Symptoms affecting the nerves
• Neuritis: Inflammation of a nerve.
• 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.
• Neuromyelitis Optica: A demyelinating disorder associated with transverse myelopathy and optic neuritis
• Neurosyphilis: Syphilis affecting the nervous system.
• Numbness of both elbows: Numbness of both elbows refers to the loss or reduction of sensation in the elbows.
• 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.
• Optic Atrophy -- Hearing Loss -- Peripheral Neuropathy, Autosomal Dominant: A very rare syndrome characterized mainly by deafness, neuropathy and vision problems.
• Optic atrophy -- ophthalmoplegia -- ptosis -- deafness -- myopathy: A rare syndrome characterized by a variety of eye problems, deafness and muscle disease.
• Optic atrophy deafness neuropathy: A very rare syndrome characterized mainly by deafness, neuropathy and vision problems.
• Optic atrophy in children: Optic atrophy in children refers to deterioration of a child's optic nerve, which transmits visual impulses from the eye to the brain.
• Optic atrophy opthalmoplegia ptosis deafness myopia: A rare syndrome characterized by the association of optic atrophy, ophthalmoplegia, droopy eyelids, deafness and myopia.
• Optic atrophy, deafness and peripheral neuropathy: A very rare syndrome characterized mainly by degeneration of the optic nerve, hearing impairment and peripheral neuropathy. Not all patients will develop peripheral neuropathy.
• Optic atrophy, hearing loss and peripheral neuropathy: A very rare syndrome characterized mainly by degeneration of the optic nerve, hearing impairment and peripheral neuropathy. Not all patients will develop peripheral neuropathy.
• Optic atrophy, hearing loss and peripheral neuropathy, autosomal recessive: A very rare, recessively inherited syndrome characterized mainly by degeneration of the optic nerve, hearing impairment and peripheral neuropathy. The severity of the symptoms is variable.
• Optic neuritis: A condition which is characterized by inflammation of the optic nerve
• Optic pathway glioma: A type of tumor that arises in the optic nerve which sends messages from the eye to the brain. These tumors tend to occur mainly in children under the age of 10. The tumor may affect the hormone center of the brain and hence can affect such things as growth and weight.
• Osteopetrosis: A bone condition characterized by brittle bones and increased bone density which increases the risk of bone fractures.
• 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.
• PEHO-like syndrome: A rare birth disorder characterized by brain anomalies due to prenatal ischemia. Clinically it is the same as true PEHO syndrome but differs in the type of brain abnormality involved. True PEHO syndrome is inherited and tends to involve an underdeveloped cerebellum which is absent in PEHO-like syndrome.
• PHACE association: A very rare syndrome characterized mainly by a brain malformation (involving the posterior fossa), large facial hemangioma and eye, heart and artery anomalies.
• Paget's Disease: Breast carcinoma involving nipple and areola.
• Paine syndrome: A rare inherited disorder characterized by a small head, mental and physical retardation and vision and movement problems.
• Paragonimiases -- lung infection: Infection by a parasitic worm, Paragonimus westermani, which are a type of lung fluke which invade the lungs and other organs where they cause problems. Infection occurs through eating freshwater crabs and crayfish which have not been cooked sufficiently.
• Pelizaeus-Merzbacher Disease: Rare brain myelin disorder.
• Pelizaeus-Merzbacher brain sclerosis: A degenerative brain disease involving deterioration of the brain white matter which affects motor and mental functioning.
• Pelizaeus-Merzbacher disease, recessive, acute infantile: A severe form of the degenerative brain disease involving deterioration of the brain white matter and resulting in impaired motor and mental functioning.
• Pituitary Cancer: Cancer of the pituitary gland.
• Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract: A very rare, recessively inherited condition characterized by the association of vision, hearing and neurological problems. The condition generally starts during the second decade of life and progresses slowly.
• Possible human carcinogenic exposure -- Lead: Some evidence indicates that exposure to Lead has a possible link to an increased risk of developing cancer in humans. The carcinogenicity of the substance may be influenced by the duration and level of exposure.
• 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.
• Quinine -- Teratogenic Agent: There is evidence to indicate that exposure to Quinine 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.
• Retinitis pigmentosa: A hereditary group of diseases that cause progressive loss of retinal function
• 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
• Rollet syndrome: A rare disorder involving damage to a part of the eye orbit resulting in eye problems and skin sensation abnormalities involving the forehead, temples and top of the head.
• Rosenberg-Chutorian Syndrome: A very rare disorder involving eye, ear and nerve disorders.
• Saethre-Chotzen Syndrome: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
• Schilder's Disease: Rare nerve myelin condition.
• Seemanova-Lesny syndrome: A rare disorder characterized by spasticity, seizures, absent abdominal reflexes, small head and mental retardation.
• Spastic paraplegia 2, X-linked: A very rare genetic disorder characterized by lower leg spasticity and weakness. It has an early onset, progresses slowly and eventually the brain becomes involved as well which produces sensory, speech and eye problems.
• Spastic paraplegia 7, autosomal recessive: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles.
• Spinocerebellar Ataxia: A condition characterised by a failure of muscle coordination due to pathology arising in the spinocerebellar tract of the spinal cord
• Spinocerebellar ataxia, autosomal recessive 5: A rare neurological disorder caused by a genetic defect (chromosome 15q24-q26, recessive) and resulting in ataxia, mental problems and a skin disorder. Symptoms start during infancy and more than half of the patients never gain the ability to walk.
• Spondylometaphyseal dysplasia, axial: A rare skeletal disorder involving abnormal bone development. The condition is characterized by flattened vertebrae, small rib cage, abnormal ribs and other bone abnormalities.
• Stroke symptoms: Brain-related symptoms of bleeding or blockage.
• Sturge-Weber Syndrome: A rare genetic disorder characterized by excessive blood vessel growth, calcium accumulation inside the brain and seizures.
• 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.
• Sylvester (P.E.) syndrome: A rare syndrome characterized by deafness, eye problems and Friedreich ataxia which causes progressive nervous system damage resulting in muscle and neurological symptoms.
• Syndactyly type 1 -- microcephaly -- mental retardation: A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features.
• 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.
• Tay Sachs Disease: A condition which is causes GM2 gangliosidosis
• Thallium poisoning: The poisoning of a person with the element thallium
• Thiamine deficiency: Dietary deficiency of vitamin B1 (thiamine)
• Toxoplasmosis: Infection often caught from cats and their feces.
• Treft-Sanborn-Carey syndrome: A rare syndrome characterized by a variety of eye problems, deafness and muscle disease.
• Tunbridge-Paley syndrome: A rare syndrome characterized by degenerative eye disease, deafness and diabetes.
• Vision changes: Any change in vision or sight.
• Vision loss: Impaired vision or loss of vision
• Visual problems: Any problems which might occur that affect ones vision
• Vitamin B12 Deficiency: A deficiency of Vitamin B12 primarily causes anemias the body is unable to make sufficient quantities of normal red blood cells. Severe cases can lead to permanent nervous system problems. The vitamin B12 deficiency can result from absorption problems, insufficient dietary intake, certain medications (e.g. metformin), inherited conditions (e.g. transcobalamin deficiency) and certain chronic parasitic intestinal infestations.
• WAGR Syndrome: A syndrome that is due to the deletion of chromosome 11.
• 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.
• Wolfram Syndrome 2: Wolfram Syndrome is a condition characterized by the association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Type 2 is the result of a genetic defect and is similar to type 1 but there is no diabetes insipidus and patients tend to develop gastrointestinal problems.
• Wolfram Syndrome, Mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
• Wolfram's disease: A condition that is inherited and consists of multiple symptoms

Conditions listing medical symptoms: Optic atrophy:

The following list of conditions have 'Optic atrophy' or similar listed as a symptom in our database. This computer-generated list may be inaccurate or incomplete. Always seek prompt professional medical advice about the cause of any symptom.

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Conditions listing medical complications: Optic atrophy:

The following list of medical conditions have 'Optic atrophy' or similar listed as a medical complication in our database.

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