早发性高度近视致病基因的研究进展  

Progress on pathogenic genes of early-onset high myopia

作　　者：潘仲涔 朱少进 谢驰[1] Pan Zhongcen;Zhu Shaojin;Xie Chi(The First Affiliated Hospital of Anhui University of Science and Technology,Institute of Ophthalmology,Anhui University of Science and Technology,Huainan,Anhui 232000,China)

机构地区：[1]安徽理工大学第一附属医院,安徽理工大学眼科研究所,安徽淮南232000

出　　处：《齐齐哈尔医学院学报》2025年第5期497-500,I0001,共5页Journal of Qiqihar Medical University

基　　金：安徽省卫生健康科研项目(AHWJ2022b109);淮南市“50·科技之星”创新团队项目。

摘　　要：早发性高度近视(eoHM)通常发生于学龄前,且等效球镜度≤-6.00D,可分为单纯型和综合征型。儿童的早发性高度近视与眼部和全身性疾病密切相关,除眼部异常外,约54%的高度近视儿童存在全身其他系统和器官的异常。目前常用的基因检测方法包括目标序列捕获测序(靶向测序集合)、全基因组测序(WGS)、全外显子组测序(WES)和Sanger测序等。eoHM几乎都符合孟德尔遗传规律,因此无论是诊断还是对疑似eoHM患儿的筛查,都应在有相关眼部病理性改变的基础上选择进行基因检测,以找到致病基因,从而促进早期诊断、有效干预和长期随访评估。Early-onset high myopia(eoHM)usually occurs before school age and has an equivalent spherical power of≤-6.00D.It can be divided into simple type and syndrome type.Early onset high myopia in children is closely related to eye and systemic diseases.In addition to eye abnormalities,about 54%of high myopia children have abnormalities in other systems and organs throughout the body.Target sequence capture sequencing(targeted sequencing set),whole genome sequencing(WGS),whole exome sequencing(WES),and Sanger sequencing are common methods used in genetic testing.EOHM conforms to Mendelian inheritance laws,so genetic testing should be selected based on relevant ocular pathological changes in diagnosing or screening of suspected EOHM children so as to find the pathogenic genes,promoting early diagnosis,effective intervention,and long-term follow-up evaluation.

关 键 词：早发性高度近视 系统性疾病 基因筛查 遗传机制 致病基因 

分 类 号：R778.11[医药卫生—眼科]