Leber hereditary optic neuropathy
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KW-0429
canonical
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KW-0429
canonical
name
Leber hereditary optic neuropathy
uniprot
definition
Protein which, if defective, causes Leber hereditary optic neuropathy, a mitochondrial disease leading to bilateral, painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disease arises during young adult life and displays sex-dependent incomplete penetrance and male predominance.
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keywords
is_obsolete
false
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keywords
ontology_id
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uniprot
keywords