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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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Dystonia, Childhood Onset, With Optic Atrophy

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Coats Plus Syndrome

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Premature telomere shortening results from mutations in the gene CTC1 which allows chromosomes to degrade prematurely and shorten the time of cell divisions.

Cataracts, Congenital, Intellectual Disability, Abnormal Striatum, and ADHD

Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2

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Cerebral Palsy, Spastic Quadriplegic, 3

Spinocerebellar Ataxia 42

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The abnormal gene product of mutated CACNA1G impacts firing patterns in neurons and other cells resulting in widespread CNS malfunction.

Leukodystrophy, Hypomyelinating, 13

Behr Syndrome

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Behr Optic Atrophy results from mutations in OPA1 that interfere with energy production and mitochondrial protein synthesis

Spastic Paraplegia with Psychomotor Retardation and Seizures

Multiple Mitochondrial Dysfunctions Syndrome 4

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Pagination

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College of Medicine
Department of Ophthalmology and Vision Science
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