Walsh & Hoyt: Leber's Optic Neuropathy

In 1871, Leber first described the disease that bears his name, although similar cases were reported 50 years earlier (e.g., von Graefe in 1858). Leber considered this entity an inflammatory neuritis, but others supported an abiotrophic origin. Numerous pedigrees of Lebers hereditary optic neuropathy (LHON) have since been reported from Europe, North America, South America, Australia, and Asia. Since the late 1980s, LHON has received notoriety as a maternally inherited disease linked to abnormalities in mitochondrial DNA. Genetic analysis has broadened our view of what constitutes the clinical presentation of LHON. Clinical features. Associated findings. Ancillary testing. Pathology. Inheritance and genetics. Determinants of expression. Treatment.