遗传性视神经病变概述  

Overview of hereditary optic neuropathy

作　　者：田国红 TIAN Guohong(Department of Ophthalmology,Eye&ENT Hospital,Fudan University,Shanghai 200031,China;NHC Key Laboratory of Myopia(Fudan University),Shanghai 200031,China;Key Laboratory of Visual Impairment and Restoration(Fudan University),Shanghai 200031,China)

机构地区：[1]复旦大学附属眼耳鼻喉科医院眼科,上海200031 [2]国家卫健委及中国医学科学院近视眼重点实验室(复旦大学),上海200031 [3]上海市视觉损害与重建重点实验室(复旦大学),上海200031

出　　处：《中国眼耳鼻喉科杂志》2022年第6期559-564,568,共7页Chinese Journal of Ophthalmology and Otorhinolaryngology

摘　　要：遗传性视神经病变是一组由核基因/线粒体基因突变导致的伴或不伴其他系统损害的以视力下降及视神经萎缩为特征的疾病。国内临床以Leber遗传性视神经病与常染色体显性遗传性视神经病为主,尚有伴发周围及中枢神经系统病变的脊髓小脑共济失调、Leigh综合征、Wolfram综合征等少见疾病。本文综述了国内外文献中该组疾病的临床特征、诊断要点及治疗进展,并结合了复旦大学附属眼耳鼻喉科医院神经眼科中心近年来的诊疗经验。对该组疾病临床特征的了解,有利于提高首诊眼科的急性视神经病变或视神经萎缩人群中遗传疾病的检出。精准的基因诊断对相应疾病的遗传学咨询与优生优育具有重要意义。Hereditary optic neuropathies comprise a group of disorders characterized by visual loss and optic atrophy with or without systemic disorders which appear to be caused by nuclei/mitochondrial mutations.Leber hereditary optic neuropathy and autosomal dominant hereditary optic atrophy are the most common hereditary optic neuropathies in China,accompanied by other rare peripheral and central nerve system diseases such as spinocerebellar ataxia,Leigh syndrome,and Wolfram syndrome.Based on a literature review and the clinical experience of Shanghai EENT Neuro-ophthalmology Center,the clinical characteristic and diagnostic key points,together with update treatments for some disorders were reviewed.Knowledge of this group of genetic diseases is beneficial to improving the diagnosis in patients presenting with acute visual loss or chronic optic atrophy of unknown reasons.Additionally,accurate genetic diagnosis is of great significance for genetic counseling and eugenics.

关 键 词：遗传性视神经病变 LEBER遗传性视神经病变 常染色体显性遗传性视神经萎缩 线粒体疾病 WOLFRAM综合征 LEIGH综合征 

分 类 号：R774.6[医药卫生—眼科]