[Clinical research progress of gene therapy for Leber hereditary optic neuropathy]

Leber hereditary optic neuropathy (LHON) is a mitochondria hereditary eye disease that involves with retinal ganglion cells (RGCs) resulting eventually in degeneration and atrophy of optic nerve. The three mitochondrial DNA mutations (ND4 G11778A, ND1G3460A, ND6T14484C) have been recognized as the primary mutation locus of LHON. Currently there is no effective therapy for LHON. The result of a clinical trial launched in 2007 indicated that intraocular injection of the recombination of adeno-associated virus and target gene is an effective and safe cure for Leber's Congenital Amaurosis (LCA), which brings hope of treating other hereditary eye diseases with gene therapy. Since LHON mainly involves with RGCs, the target gene can be delivered directly to RGCs with the means of injecting the recombination into vitreous cavity, therefore resulting in less damage to retina as compared to other gene therapy for LCA which require the drug to be injected under the retina. This article summarizes the research progress of the clinical trial relevant to gene therapy for LHON. (Chin J Ophthalmol, 2018, 54: 636-640).