Leber's hereditary optic neuropathy: historical and contemporary considerations.

Abstract

Leber's hereditary optic neuropathy (LHON) is a distinct form of optic atrophy with a unique pattern of inheritance. The clinical reports of this disorder remain consistent with the original classic description made by Theodor Leber in 1871. Recent advances in the field of molecular genetics, however, have yielded insights into the etiological determinants underlying the clinical expression of LHON. Disease presentation, both ophthalmoscopically and clinically, are reviewed. Classic and atypical presentations are discussed with genetic testing as the definitive diagnostic measurement. Clinical and histopathological findings have led to the investigation of promising preclinical indicators of LHON symptomatology. Evidence of a multifactorial etiology has implicated a broad spectrum of potential intervention protocols. Teaming of the clinician and laboratory geneticist to identify those at risk is critical, not only for future clinical protocols, but to allow for immediate intervention when an effective therapy becomes available.