Multiple Sclerosis–Like Disorder in Opa1-Related Autosomal Dominant Optic Atrophy
Résumé
Autosomal dominant optic atrophy (ADOA) is a progressive ophthalmologic disorder caused in two-thirds of the cases by a mutation in the optic atrophhy 1 (IPA1) gene, a nuclear gene encoding a mitochondrial protein. We report a patient in whom an OPA1 mutation was responsible for a 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.