Retinal Ganglion Cell Analysis in Leber’s Hereditary Optic Neuropathy

Leber's hereditary optic neuropathy (LHON) is a rare, maternally inherited disorder that results in bilateral loss of central vision. Characteristic visual field defects in LHON consist of either central or cecocentral scotomas, with about 70% of the patients being young adult men. More than 90% of these patients carry 1 of 3 mitochondrial DNA (mtDNA) mutations, located at nucleotide positions 3460, 11778, or 14484, respectively, although >20 mtDNA point mutations have been reported in LHON patients worldwide. Retinal ganglion cells decrease by apoptosis, and finally the retinal nerve fiber thins in LHON. Recently, gene therapy has been considered likely to hold the most promise for the treatment of mitochondrial diseases, especially the hereditary optic neuropathies in which targeted therapy to the retinal ganglion cells is feasible. Although treatment options for these disorders are still in their infancy, prompt and exact diagnosis of LHON is important to help select the appropriate strategy.