Novel OPA3 Mutation in an Afghani Family with 3-Methylglutaconic Aciduria Type III and Optic Atrophy

Abstract

To describe and distinguish clinical phenotypes with the overlapping feature of optic atrophy caused by distinct mutations in the same gene, OPA3. We report 3 affected siblings in a consanguineous family harboring a novel OPA3 mutation causing 3-methylglutaconic aciduria type III with optic atrophy