Leber遗传性视神经病变的临床实践指南  

Clinical practice guidelines for Leber’s hereditary optic neuropathy

作　　者：无 蒋萍萍 王剑勇[3] 顾扬顺[3] 管敏鑫 无;Jiang Pingping;Wang Jianyong;Gu Yangshun;Guan Minxin(Writing Group for Practice Guidelines for Diagnosis and Treatment of Genetic Diseases,Medical Genetics Branch of Chinese Medical Association;不详)

机构地区：[1]中华医学会医学遗传学分会遗传病临床实践指南撰写组 [2]浙江大学医学院附属儿童医院医学遗传与基因组学中心 [3]浙江大学医学院附属第一医院眼科中心

出　　处：《中华医学遗传学杂志》2020年第3期284-288,共5页Chinese Journal of Medical Genetics

摘　　要：Leber遗传性视神经病变(Leber’s hereditary optic neuropathy,LHON)为母系遗传病,线粒体基因组m.11778G>A、m.14484T>C和m.3460G>A突变是其主要的分子基础,但其发病亦受到核基因、线粒体遗传背景和环境因素的共同影响。本指南的编写在参考国内外相关领域的基础和临床研究以及其他国家发布的指南和共识的基础上,结合了中国人群的实际资料,旨在总结关于LHON的遗传学知识和临床处置要点,以提高临床医师对该病的诊断水平,并为患者临床管理的规范化提供建议。Leber’s hereditary optic neuropathy(LHON)is a genetic disease featuring maternal inheritance.mtDNA m.11778G>A,m.14484T>C and m.34600 A mutations are its main molecular basis,but the disease is also affected by nuclear genes,genetic background of mtDNA and environmental factors.By referring to basic and clinical research in the related fields at home and abroad,guidelines and consensus issued by other countries,and combined with data from the Chinese population,this guideline aims to summarize the genetics knowledge and clinical treatment of LHON,with an aim to improve the clinical diagnosis and standardize the clinical management of patients.

关 键 词：LEBER遗传性视神经病变 线粒体基因组 母系遗传 实践指南 

分 类 号：R73[医药卫生—肿瘤]