Evidence map›Paper›PMID 42390706›Full record

ArticleDocumenta ophthalmologica. Advances in ophthalmology2026

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

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

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Article in Documenta ophthalmologica. Advances in ophthalmology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Yunsheng QiaoDepartment of Ophthalmology & Visual Science, Eye & ENT Hospital, Shanghai Medical College, Fudan University, 83 Fenyang Rd., Shanghai, 200031, China.
Chen TanDepartment of Ophthalmology & Visual Science, Eye & ENT Hospital, Shanghai Medical College, Fudan University, 83 Fenyang Rd., Shanghai, 200031, China.
Yinuo WenDepartment of Ophthalmology & Visual Science, Eye & ENT Hospital, Shanghai Medical College, Fudan University, 83 Fenyang Rd., Shanghai, 200031, China.
Xinghuai SunDepartment of Ophthalmology & Visual Science, Eye & ENT Hospital, Shanghai Medical College, Fudan University, 83 Fenyang Rd., Shanghai, 200031, China.
Jihong WuDepartment of Ophthalmology & Visual Science, Eye & ENT Hospital, Shanghai Medical College, Fudan University, 83 Fenyang Rd., Shanghai, 200031, China.
Junyi ChenDepartment of Ophthalmology & Visual Science, Eye & ENT Hospital, Shanghai Medical College, Fudan University, 83 Fenyang Rd., Shanghai, 200031, China. chenjy@fudan.edu.cn.

Funding

National Key Research and Development Program of China 2024YFC2510802National Natural Science Foundation of China 82171052National Natural Science Foundation of China 82201172
6 · The paper itself

Abstract

purposeWe 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

resultsUltrasound 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.

conclusionsThis 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.

Indexed as

Crumbs cell polarity complex component 1 (CRB1)Foveal retinoschisisPrimary angle closure

Identifiers

PMID42390706

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.