Leber遗传性视神经病变中西医研究进展  

Research progress of traditional Chinese and western medicine in Leber's hereditary optic neuropathy

作　　者：王茜[1] 鞠援[2] 李晓明 WANG Xi;JU Yuan;LI Xiao-ming(Changchun University of Traditional Chinese Medicine,Changchun 130117,China)

机构地区：[1]长春中医药大学,130117 [2]长春中医药大学附属医院眼科,130021

出　　处：《中国实用医药》2022年第20期187-191,共5页China Practical Medicine

摘　　要：Leber遗传性视神经病变(LHON)是一种典型的线粒体遗传病,由线粒体脱氧核糖核酸(mtDNA)突变引起,通常见于母系遗传。其中m.11778G>A、m.14484T>C和m.3460G>A突变是其最主要的病变类型。多在青壮年时期发病,对于部分LHON患者发病早期行艾地苯醌等药物综合治疗,视功能可能会有所改善。近年基因治疗等相关研究的疗效和安全性仍有待进一步研究。针灸和中药治疗LHON可能有一定效果,目前仍需要进一步研究和观察。本文就LHON的临床表现、发病机制、临床诊断及治疗等中西医相关研究进行综述。Leber's hereditary optic neuropathy(LHON)is a typical mitochondrial genetic disease,caused by mutations in mitochondrial deoxyribonucleic acid(mtDNA),and is usually maternally inherited.Among them,the m.11778G>A,m.14484T>C and m.3460G>A mutations are the most dominant lesion types.Most of the onset occurs in young adults.For some LHON patients in the early stage,the visual function may be improved by comprehensive treatment with idebenone and other drugs.The efficacy and safety of recent gene therapy and other related studies remain to be further studied.Acupuncture and traditional Chinese medicine may have some effect in treating LHON,and further research and observation are still needed.This paper focuses on the clinical manifestations,pathogenesis,clinical diagnosis and treatment of LHON.

关 键 词：LEBER遗传性视神经病变 线粒体脱氧核糖核酸 线粒体遗传病 艾地苯醌 

分 类 号：R774.6[医药卫生—眼科]