伴有听力异常的综合征型眼遗传病  

Syndromic ophthalmogenetic disease with hearing impairment

作　　者：张磊(综述) 王海燕(审校) ZHANG Lei;WANG Haiyan(Xi’an People’s Hospital,Xi’an Fourth Hospital Xi’an,Shaanxi Eye Hospital 710004,China)

机构地区：[1]西安市人民医院,西安市第四医院,陕西省眼科医院,西安710004

出　　处：《眼科学报》2023年第5期427-435,共9页Eye Science

基　　金：陕西省重点研发项目(2023-YBSF-537);陕西省自然科学基础研究计划项目(2022JM-514);白求恩·朗沐中青年眼科科研基金(BJ-LM2021011J);西安市人民医院(西安市第四医院)孵化基金(ZD-5,ZD-7,ZD-8)~~。

摘　　要：遗传在儿童和青少年的眼耳功能障碍发病机制中起着重要作用。由于眼耳有共同的神经内、外胚层起源,具有相似的基因网络,所以当共同的基因发生致病性变异时会导致眼耳双重感觉丧失。有超过70多种病因与聋盲有关,常见的伴有听力异常并累及视神经和视网膜的综合征型眼遗传病,包括CHARGE综合征、Usher综合征、Stickler综合征、Alport综合征、Wolfram综合征、Waardenburg综合征等。其他如染色体和胚胎的异常也会出现导致眼耳发育障碍,如Down综合征、Dandy-Walker综合征等。一些已知的眼遗传病致病基因变异也可导致听力异常,如OPA1基因。由于遗传异质性,眼耳综合征的临床诊断往往很困难,尤其是对婴幼儿。了解遗传综合征中眼耳相关临床特征,有利于早期发现和正确诊断;而当综合征中眼部表型不典型,可以通过耳部等其他系统表型协助诊断。同时,明确诊断对终生视觉和听觉功能的监测,以及与优生遗传咨询均有重要意义。Heredity plays an important role in the pathogenesis of eye and ear dysfunction in children and adolescents.Because of common neural endodermal and ectodermal origins,the eyes and ears have the similar networks of genes Therefore,when pathogenic mutations occur in common genes,it can lead to loss of double sensation in the eyes and ears.There are more than 70 etiologies associated with the deafblindness,including CHARGE,Usher,Down,Stickler,Alport,Wolfram and Waardenbur syndromes,which are the most common syndromic ophthalmic genetic diseases with hearing and optic nerve/retinal abnormalities.Other abnormalities such as chromosomal and embryonic abnormalities can also lead to hearing and vision impairment,like Down and Dandy Walker syndromes.Some known genetic variants in ocular genetic diseases can also lead to hearing loss,such as OPA1 gene.Due to genetic heterogeneity,the clinical diagnosis of ocular and ear syndrome is often difficult,especially for infants and young children.With understanding the clinical features of eyes and ears in genetic syndrome,is conducive to early detection and accurate diagnosis,and when the ocular phenotype in the syndrome is atypical,it can be assisted by other systematic phenotypes such as the ear.At the same time,clear diagnosis is important for lifelong monitoring of visual and auditory function,as well as for eugenic genetic counseling.

关 键 词：眼遗传病 盲 聋 遗传综合征 基因变异 

分 类 号：R771.3[医药卫生—眼科]