JOURNAL ARTICLE

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

Stephanie C Bourne, Katelin N Townsend, Casper Shyr, Allison Matthews, Scott A Lear, Raj Attariwala, Anna Lehman, Wyeth W Wasserman, Clara van Karnebeek, Graham Sinclair, Hilary Vallance, William T Gibson
Cold Spring Harbor Molecular Case Studies 2017, 3 (1): a001156
28050599
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.

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