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Published on: September 20, 2018

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

Yunsheng Qiao1,2, Chen Tan1,2, Yinuo Wen1,2

  • 1Department of Ophthalmology & Visual Science, Eye & ENT Hospital, Shanghai Medical College, Fudan University, 83 Fenyang Rd., Shanghai, 200031, China.

Documenta Ophthalmologica. Advances in Ophthalmology
|July 2, 2026
PubMed

Insights

This case study highlights CRB1-associated retinopathy in a child with elevated intraocular pressure (IOP) and foveal retinoschisis (FRS). Genetic analysis revealed a novel CRB1 variant, linking genotype to maculopathy and high IOP.

Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Diseases

Background:

  • CRB1-associated retinopathy is a rare genetic disorder affecting vision.
  • Early diagnosis and genetic analysis are crucial for understanding retinal pathologies.

Purpose of the Study:

  • To report a case of CRB1-associated retinopathy in a pediatric patient presenting with primary angle closure, elevated intraocular pressure (IOP), and foveal retinoschisis (FRS).
  • To investigate the genotype-phenotype correlation of a novel CRB1 variant.

Main Methods:

  • Clinical examination including ultrasound biomicroscopy.
  • Ocular hypertension management with laser peripheral iridotomy and topical medications.
  • Comprehensive genetic screening to identify causative mutations.

Main Results:

  • The patient presented with shallow anterior chamber, angle closure, and anteriorly positioned ciliary body.
  • Initial treatment improved visual acuity and IOP, but FRS progressed.
  • Genetic analysis identified a novel copy number loss and a pseudo-homozygous c.4207G>C (p.Glu1403Gln) variant in the CRB1 gene.

Conclusions:

  • This case emphasizes the necessity of thorough ophthalmologic evaluation and genetic testing in pediatric primary angle closure.
  • The patient's unique genetic status offers a valuable opportunity to establish a genotype-phenotype association for the identified CRB1 variant with maculopathy and elevated IOP.
Abstract

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

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