Angle closure glaucoma in a patient with X-linked retinoschisis:a case report  

作　　者：Lu Yao Ye Lu Kang-Yi Yang Kun Lyu Zong-Yi Wang Lyu-Zhen Huang Hui-Juan Wu 

机构地区：[1]Department of Ophthalmology,Peking University People’s Hospital,College of Optometry,Beijing 100044,China [2]University Health Science Center/Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases,Beijing 100044,China [3]Department of Ophthalmology,Air Force Medical Center,Affiliated Hospital of Air Force Medical University,Beijing 100142,China

出　　处：《International Journal of Ophthalmology(English edition)》2025年第3期557-561,共5页国际眼科杂志(英文版)

基　　金：Supported by Capital’s Funds for Health Improvement and Research(No.2024-2-4087);Central Guidance for Local Scientific and Technological Development Funding Projects(No.2022ZY0026).

摘　　要：Dear Editor,X-linked retinoschisis(XLRS)is a rare X-linked recessive disorder predominantly afflicting young males.The schisis of the retinal layers is a result of deleterious mutations in the RS1 gene.Insufficient epidemiological data has caused significant variation in reported global prevalence,with estimates fluctuating between 1 in 5000 and 1 in 30000 individuals[1].A large follow-up multicenter study recently published has yielded noteworthy findings concerning the phenotypic spectrum,long-term natural history,and genotype of XLRS.The investigation revealed a significant variability in visual function and disease progression,with particular variants of the RS1 gene displaying diverse phenotypic expressions,suggesting the intricate genetic basis underlying this disorder[2].The range of visual impairments associated with XLRS is extensive,varying from minor to severe.This condition is also characterized by specific retinal abnormalities,including radial streaks emanating from a divided central fovea,schisis affecting the inner layers of the retina in peripheral areas,and a diminished amplitude ratio of b-to a-wave,or even an electronegative electroretinography(ERG)[3].At their initial consultation,the majority of individuals with XLRS exhibit visual acuity(VA)levels between 20/60 and 20/120.However,there is a significant diversity in the condition’s presentation and progression,even among relatives,with VA levels spanning from near-normal to complete loss of sight[4-5].While vision tends to be reasonably consistent over several years for those with XLRS,there is documentation of a more rapid decline in later adulthood,specifically during the fourth and fifth decades,due to central retinal degeneration[5-7].Moreover,those with XLRS face an elevated risk for serious visual issues,such as retinal detachment,vitreous hemorrhages,and neovascular glaucoma[4].Female carriers could be found with slightly abnormal retinal changes without clinical symptoms[5].Even within the same family,the manifestation and progress

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分 类 号：R775[医药卫生—眼科]