Leber's hereditary optic neuropathy - Update review

摘要

Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease, causing severe and permanent bilateral visual loss mostly in young men. This disease has been associated with point mutations in mitochondrial DNA (mtDNA). The mutations impair the mitochondrial respiratory function and constitute different clinical features and prognoses. Although the primary etiologic factor of LHON is a mutation in the mitochondrial genome, there are other genetic and epigenetic factors that may influence the penetrance and expression of the disease. This article reviews the recent developments in the molecular and cellular biological research on LHON.