Atypical Leber’s Optic Neuropathy

Abstract

The diagnosis of Leber’s hereditary optic neuropathy (LHON) in 6 female atypical cases seen at Harvard, Emory, and Johns Hopkins Medical Centers required molecular analysis and demonstration of the 11778 mitochondrial DNA mutation for accurate confirmation.

Keywords

• leber’s hereditary optic neuropathy
• bitemporal hemianopia
• molecular analysis