先天性眼球震颤相关致病基因及分子遗传学的研究进展  

Advance on pathogenic genes and molecular genetics of congenital nystagmus

作　　者：周楚仪 王乐今[1] Chuyi Zhou;Lejin Wang(Department of Ophthalmology,Peking University People's Hospital,Beijing 100044,China;Beijing Key Laboratory of Ocular Disease and Optometry Science,Peking University People's Hospital,Beijng 100044,China)

机构地区：[1]北京大学人民医院眼科,100044

出　　处：《中华眼科医学杂志(电子版)》2024年第6期363-367,共5页Chinese Journal of Ophthalmologic Medicine(Electronic Edition)

基　　金：国家自然科学基金项目(81470665);2018年首都卫生科研专项批准项目(2018-2Z-4086)。

摘　　要：先天性眼球震颤(CN)是一种以眼球不自主运动为特征的眼球运动功能障碍性疾病,通常在出生后6个月内发现。该病可能与遗传性视网膜病(IRD)所致的知觉缺陷有关,也可能为特发性。CN作为多种疾病的常见表型,其致病基因及遗传模式也复杂多样,临床上常难以作出准确的分子学诊断。近年来,随着新一代高通量测序技术的发展,IRD致病基因的检出率显著提高,基因疗法的研究也取得了令人瞩目的成果。因此,总结整合CN及与其相关IRD的基因型及表型的关联尤为重要。本文笔者基于国内外最新研究进展,系统总结了CN相关的致病基因、遗传方式及其分子机制,旨在为该病的诊断、发病机制和治疗提供新的研究思路与参考。Congenital nystagmus(CN)is a type of ocular motor disorder characterized by involuntary oscillation of eyes,typically occurred in the first six months of life.It can be related to the sensory disorder result by inherited retinal disease,or be idiopathic.As a common phenotype of many disease,the genetic complexity and diverse inheritance pattern of CN present a great challenge of monogenic diagnosis.Recent development of next-generation sequencing technologies significantly enhanced the identification of pathogenic genes,while the gene therapy has made a great progress.Therefore,it is crucial to summarize the genotype and phenotype association of CN and its related inherited retinal diseases.The identified genes and the underlying molecular mechanisms linked to CN,drawing upon the latest findings from international research were systematically reviewed in the paper,aiming to provide novel insights and a comprehensive reference for improving the diagnosis,classification,and treatment of CN.

关 键 词：先天性眼球震颤 基因型 表型 遗传性视网膜病 

分 类 号：R77[医药卫生—眼科]