Early onset primary angle closure and foveal retinoschisis associated with a pseudo-homozygous CRB1 pathogenic variant.

IF 2 4区医学 Q2 OPHTHALMOLOGY

Documenta Ophthalmologica Pub Date : 2026-07-02 DOI:10.1007/s10633-026-10127-5

Yunsheng Qiao, Chen Tan, Yinuo Wen, Xinghuai Sun, Jihong Wu, Junyi Chen

{"title":"Early onset primary angle closure and foveal retinoschisis associated with a pseudo-homozygous CRB1 pathogenic variant.","authors":"Yunsheng Qiao, Chen Tan, Yinuo Wen, Xinghuai Sun, Jihong Wu, Junyi Chen","doi":"10.1007/s10633-026-10127-5","DOIUrl":null,"url":null,"abstract":"Purpose: We describe a case of a 4-year-old Chinese girl who presented with elevated intraocular pressure (IOP), and foveal retinoschisis (FRS) in both eyes, which was later diagnosed as CRB1-associated retinopathy.Methods and results: Ultrasound biomicroscopy demonstrated shallow anterior chamber, angle closure, anterior insertion of iris and anteriorly positioned ciliary body. The patient received laser peripheral iridotomy and topical medications for ocular hypertension and macular oedema. Longitudinal follow-up over 2 years revealed improved visual acuity, and effective IOP control. However, the FRS continued to progress. Genetic screening confirmed a novel copy number loss and a pseudo-homozygous c.4207G > C (p.Glu1403Gln) variant of the CRB1 gene.Conclusions: This case underscores the importance of comprehensive ophthalmologic examination and genetic testing in young patients with primary angle closure. In addition, the patient's hemizygous state for the CRB1 gene provides a unique opportunity to establish a genotype-phenotype association between the c.4207G > C (p.Glu1403Gln) variant and maculopathy as well as elevated IOP.","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":""},"PeriodicalIF":2.0000,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Documenta Ophthalmologica","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10633-026-10127-5","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Purpose: We describe a case of a 4-year-old Chinese girl who presented with elevated intraocular pressure (IOP), and foveal retinoschisis (FRS) in both eyes, which was later diagnosed as CRB1-associated retinopathy.

Methods and results: Ultrasound biomicroscopy demonstrated shallow anterior chamber, angle closure, anterior insertion of iris and anteriorly positioned ciliary body. The patient received laser peripheral iridotomy and topical medications for ocular hypertension and macular oedema. Longitudinal follow-up over 2 years revealed improved visual acuity, and effective IOP control. However, the FRS continued to progress. Genetic screening confirmed a novel copy number loss and a pseudo-homozygous c.4207G > C (p.Glu1403Gln) variant of the CRB1 gene.

Conclusions: This case underscores the importance of comprehensive ophthalmologic examination and genetic testing in young patients with primary angle closure. In addition, the patient's hemizygous state for the CRB1 gene provides a unique opportunity to establish a genotype-phenotype association between the c.4207G > C (p.Glu1403Gln) variant and maculopathy as well as elevated IOP.

查看原文本刊更多论文

早期原发性角关闭和中央凹视网膜裂与伪纯合子CRB1致病变异有关。

目的：我们描述了一个4岁的中国女孩，她表现为双眼眼压升高（IOP）和中央凹视网膜裂（FRS），后来被诊断为crb1相关视网膜病变。方法和结果：超声生物显微镜下显示浅前房、闭角、虹膜前插入、睫状体前位。患者接受激光虹膜周围切开术和局部药物治疗高眼压和黄斑水肿。2年以上的纵向随访显示视力改善，眼压控制有效。然而，FRS继续取得进展。遗传筛选证实了一个新的拷贝数缺失和一个CRB1基因的伪纯合C . 4207g > C （p.Glu1403Gln）变体。结论：本病例强调了对年轻原发性闭角患者进行全面眼科检查和基因检测的重要性。此外，患者CRB1基因的半合子状态提供了一个独特的机会来建立C . 4207g > C （p.Glu1403Gln）变异与黄斑病变以及IOP升高之间的基因型-表型关联。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Documenta Ophthalmologica 医学-眼科学

CiteScore

3.50

自引率

21.40%

发文量

审稿时长

>12 weeks

期刊介绍： Documenta Ophthalmologica is an official publication of the International Society for Clinical Electrophysiology of Vision. The purpose of the journal is to promote the understanding and application of clinical electrophysiology of vision. Documenta Ophthalmologica will publish reviews, research articles, technical notes, brief reports and case studies which inform the readers about basic and clinical sciences related to visual electrodiagnosis and means to improve diagnosis and clinical management of patients using visual electrophysiology. Studies may involve animals or humans. In either case appropriate care must be taken to follow the Declaration of Helsinki for human subject or appropriate humane standards of animal care (e.g., the ARVO standards on Animal Care and Use).