Abstract

Leber's hereditary optic neuropathy(LHON) is an optic nerve disease that causes blindness and is associated with maternally inherited mitochondrial DNA(mt DNA) mutations. The most common mitochondrial DNA mutation among LHON patients is a point mutation at the nucleotide 11778 in the subunit 4 of complex I. In one 45-year old male LHON patient with bilateral optic neuropathy, we investigated the presence of a point mutation of mitochondrial DNA and identified a single guanine to adenine transition mutation in the mitochondrial DNA at nucleotide point 11778.

• Keywords: Leber's hereditary optic neuropathy;