先天性静止性夜盲疾病谱及其基因型-表型研究现状与进展  

Congenital stationary night blindness:an update and review of the disease spectrum and genotype-phenotype correlations

作　　者：申眉(综述) 李世迎(审校) SHEN Mei;LI Shiying(Department of Ophthalmology,Xiang‘an Hospital of Xiamen University,Eye Institute of Xiamen University,Xiamen 361101,China;Department of Ophthalmology,School of Medicine,the First Affiliated Hospital of Xiamen University,Xiamen 361005,China)

机构地区：[1]厦门大学附属翔安医院眼科,厦门361101 [2]厦门大学附属第一医院眼科,厦门361005

出　　处：《眼科学报》2025年第2期144-154,共11页Eye Science

基　　金：国家重点基础研究发展计划项目(2024YFA1108700);福建省自然科学基金面上项目(2022J01110650);厦门市医工结合科技计划项(3502Z20224030)。

摘　　要：CSNB是一组高度异质的遗传性视网膜疾病(inherited retinal disease,IRD),主要由视网膜光感受器细胞和双极细胞间的信号传导障碍引发。其主要临床特征为静止性夜盲和暗适应功能障碍,常伴有早发性近视、眼球震颤、斜视和远视等症状,ERG在CSNB的诊断、分型及治疗指导中起着至关重要的作用。尽管CSNB发病率低,属于罕见病,但其真实发病率可能被低估,部分原因在于其症状轻微、眼底表现多不明显,且临床常忽视视网膜功能检查,导致较高的漏诊和误诊率。随着分子遗传学技术的进步,大量研究揭示了CSNB不同基因缺陷的致病机制,特别是与早发近视的关联机制,这些研究同也增加了对视网膜信号传导和近视发病机制的理解。然而,CSNB的基因治疗仍处于早期阶段。本综述旨在全面探讨CSNB的疾病谱,包括不同类型患者的临床表现、影像学和功能学表型特征,以及相关遗传学致病机制,并总结基因型与表型的关联。同时,综述最新研究成果与未来发展方向,旨在提高国内学者对CSNB的认识,为临床诊断和治疗提供参考,并为后续研究提供新思路。Congenital Stationary Night Blindness(CSNB)represents a group of highly heterogeneous inherited retinal diseases(IRDs)primarily caused by impaired signal transmission between photoreceptor cells and bipolar cells in the retina.The main clinical features include stationary night blindness and dark adaptation dysfunction,often accompanied by early-onset myopia,nystagmus,strabismus,and hyperopia.Electroretinography(ERG)plays a crucial role in the diagnosis,classification,and therapeutic management of CSNB.Although CSNB is classified as a rare disease due to its low incidence,its true prevalence is likely underestimated,partly because of its mild symptoms,inconspicuous fundus manifestations,and frequent oversight of retinal function tests in clinical practice,leading to high rates of underdiagnosis and misdiagnosis.With advances in molecular genetics,extensive research has elucidated the pathogenic mechanisms of various genetic defects in CSNB,particularly those associated with early-onset myopia.These studies have also enhanced our understanding of retinal signal transduction and the pathogenesis of myopia.However,gene therapy for CSNB remains in its early stages.This review aims to comprehensively explore the disease spectrum of CSNB,including clinical manifestations,imaging and functional phenotypic characteristics across different subtypes,and associated genetic pathogenic mechanisms.We also summarize genotype-phenotype correlations,review the latest research advancements,

关 键 词：先天性静止性夜盲 Riggs型先天性静止性夜盲 Schubert-Bornshein型先天性静止性夜盲 白点状眼底 小口病 视网膜电图 基因型-表型关联 发病机制 

分 类 号：R774.1[医药卫生—眼科] R596[医药卫生—临床医学]