OPTIC ATROPHY, KJER TYPE
\ˈɒptɪk ˈatɹəfi], \ˈɒptɪk ˈatɹəfi], \ˈɒ_p_t_ɪ_k ˈa_t_ɹ_ə_f_i]\
Definitions of OPTIC ATROPHY, KJER TYPE
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Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
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