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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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Kufor-Rakeb Syndrome

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Spastic Paraplegia 78

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Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy

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Mutations in the TBCE gene result in improper folding of beta-tubulin that is part of the microtubules located in the cytoskeleton.

Optic Atrophy 11

Ataxia and Polyneuropathy, Adult-Onset

Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset

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.

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.

Spastic Paraplegia 11

Behr Syndrome

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

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College of Medicine
Department of Ophthalmology and Vision Science
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