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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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optic atrophy

PEHO-Like Syndrome

Pontocerebellar Hypoplasia 7

Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity

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.

Epileptic Encephalopathy, Early Infantile 48

Encephalopathy, Early-Onset, With Brain Atrophy and Thin Corpus Callosum

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Improper folding of cellular microtubules secondary to TBCD mutations has devastating consequences in the nervous system.

Optic Atrophy 11

Dystonia, Childhood Onset, With Optic Atrophy

Image

Cone-Rod Dystrophy with Hearing Loss

Ataxia and Polyneuropathy, Adult-Onset

Pagination

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College of Medicine
Department of Ophthalmology and Vision Science
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