医学
指南
Leber遗传性视神经病
线粒体DNA
疾病
临床实习
粒线体疾病
视神经病变
遗传学
眼科
家庭医学
基因
病理
生物
视神经
作者
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical …,Pingping Jiang,Jianyong Wang,Yangshun Gu,Min‐Xin Guan
出处
期刊:PubMed
日期:2020-03-10
卷期号:37 (3): 284-288
被引量:1
标识
DOI:10.3760/cma.j.issn.1003-9406.2020.03.010
摘要
Leber's hereditary optic neuropathy (LHON) is a genetic disease featuring maternal inheritance. mtDNA m.11778G>A, m.14484T>C and m.3460G>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.
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