Dominant Optic Atrophy

《英文msh詞典》Dominant Optic Atrophy
[同義詞] Dominant Optic Atrophy
[主題詞] Optic Atrophy,Autosomal Dominant
[中文釋義] 顯性視神經萎縮
[英文釋義] 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.