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Hereditary Ocular Disease: a Database of hereditary ocular disease.

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seizures

Pontocerebellar Hypoplasia 7

Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability

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.

Intellectual Disability with Dysmorphic Facies and Ptosis

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Epileptic Encephalopathy, Early Infantile 47

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Mutations in the FGF12 gene, whose product is one of the fibroblast growth factor family, has widespread impacts in the eye and CNS.

ZTTK Syndrome

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.

Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2

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Pagination

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College of Medicine
Department of Ophthalmology and Vision Science
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