Optic Atrophy, Cataracts, Lipodystrophy/Lipoatrophy, And Peripheral Neuropathy Caused By A De Novo Opa3 Mutation

We describe a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a c.235C > G p.(Leu79Val) variant in the optic atrophy 3 (OPA3) gene that was confirmed to be de novo. This report expands the severity of the phenotypic spectrum of autosomal dominant OPA3 mutations.