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

Published in

Documenta ophthalmologica. Advances in ophthalmology. Jul 02, 2026. Epub Jul 02, 2026.

Abstract

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.
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.
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.

PMID:
42390706
Bibliographic data and abstract were imported from PubMed on 02 Jul 2026.

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