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Ornithine aminotransferase deficiency
rareA very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract.
- Identifiers
- MONDO:0009796 OMIM:258870Orphanet:414
- Causal genes
- OAT
- Part of
- Hereditary peripheral neuropathyInborn disorder of ornithine metabolismInherited retinal dystrophyNeurovascular disorderOptic choroid disorder
- Also known as
- Fuchs atrophia gyrata chorioideae et retinae · Fuchs gyrate atrophy · Fuchs gyrate atrophy of the choroid and retina · GACR · Girate atrophy of the retina
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