MULTIPLE SCLEROSIS-LIKE DISORDER IN OPA1-RELATED AUTOSOMAL DOMINANT OPTIC ATROPHY

摘要

Autosomal dominant optic atrophy (ADOA) is a progressive ophthalmologic disorder caused in two-thirds of the cases by a mutation in the optic atrophy 1 (OFA1) gene, a nuclear gene encoding a mitochon-drial protein.1 We report a patient in whom an OPA1 mutation was responsible for bilateral optic atrophy associated with multiple sclerosis-like (MSL) features. In addition, biochemical studies performed on fibroblasts from this patient showed a significant mitochondrial coupling defect associated with reduced ATP production and respiratory function in comparison to controls#