Wu Y J, Li W S
Department of Ophthalmology, the 180th Hospital of PLA, Quanzhou 362000, China.
Zhonghua Yan Ke Za Zhi. 2018 Aug 11;54(8):636-640. doi: 10.3760/cma.j.issn.0412-4081.2018.08.017.
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. .
Leber遗传性视神经病变（LHON）是一种线粒体遗传性眼病，累及视网膜神经节细胞（RGCs），最终导致视神经变性和萎缩。三种线粒体DNA突变（ND4 G11778A、ND1 G3460A、ND6 T14484C）已被确认为LHON的主要突变位点。目前尚无针对LHON的有效治疗方法。2007年启动的一项临床试验结果表明，眼内注射腺相关病毒与靶基因的重组体是治疗莱伯先天性黑蒙（LCA）的一种有效且安全的疗法，这为用基因疗法治疗其他遗传性眼病带来了希望。由于LHON主要累及RGCs，通过将重组体注入玻璃体腔的方式可将靶基因直接递送至RGCs，因此与其他需要将药物注射到视网膜下的LCA基因疗法相比，对视网膜的损伤较小。本文总结了与LHON基因治疗相关的临床试验研究进展。
