Introduction. In 1961, Garcin et al. described a family with several members affected with optic atrophy associated with cataract, and neurological symptoms. The authors believed this condition to be distinct from oth...Introduction. In 1961, Garcin et al. described a family with several members affected with optic atrophy associated with cataract, and neurological symptoms. The authors believed this condition to be distinct from other diseases known at that time, e.g. the Behr syndrome, Marinesco-Sj gren syndrome and Friedreich’s ataxia. Method. This family was followed over a period of 40 years and genes known to be responsible for optic atrophy were sequenced. Results. The G277A mutation of OPA3 gene was responsible for this familial disease. Discussion. A new clinical entity is identified: autosomal dominant optic atrophy and cataract, due to a heterozygous mutation of the OPA3 gene, a nuclear gene encoding a mitochondrial protein.展开更多
文摘Introduction. In 1961, Garcin et al. described a family with several members affected with optic atrophy associated with cataract, and neurological symptoms. The authors believed this condition to be distinct from other diseases known at that time, e.g. the Behr syndrome, Marinesco-Sj gren syndrome and Friedreich’s ataxia. Method. This family was followed over a period of 40 years and genes known to be responsible for optic atrophy were sequenced. Results. The G277A mutation of OPA3 gene was responsible for this familial disease. Discussion. A new clinical entity is identified: autosomal dominant optic atrophy and cataract, due to a heterozygous mutation of the OPA3 gene, a nuclear gene encoding a mitochondrial protein.
