ArticleArquivos brasileiros de oftalmologia
Early occurrence of primary angle-closure glaucoma in a patient with retinitis pigmentosa and CRB1 gene variations.
Article in Arquivos brasileiros de oftalmologia. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 2 citations in OpenAlex.
- Early onset primary angle closure and foveal retinoschisis associated with a pseudo-homozygous CRB1 pathogenic variant.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Novel Genotype-Phenotype Correlations inOphthalmology science · 2026Article
- A novelInternational journal of ophthalmology · 2026Article
- Expanding the Clinical Spectrum ofInternational journal of molecular sciences · 2025Article
- Biallelic Heterozygous Mutations in Crumbs Homolog-1 Gene Associated With Macular Retinoschisis and Angle-Closure Glaucoma: A Case Report and Literature Review.Frontiers in ophthalmology · 2022Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe the case of a 15-year-old girl with decreased visual acuity associated with elevated intraocular pressure in both eyes and angle closure on gonioscopy. She also presented attenuation of retinal vessels and optic disc pallor with large excavation in the left eye. Ultrasound biomicroscopy revealed an anteriorly positioned ciliary body and absence of ciliary sulcus, confirming the plateau iris configuration. Spectral-domain optical coherence tomography revealed a bilateral cystoid macular edema. Genetic screening revealed heterozygous variants of the Crumbs homolog 1 (CRB1) gene (c.2843G>A and c.2506C>A). The patient underwent trabeculectomy for intraocular pressure control and topical treatment for macular edema. This case highlights the importance of performing gonioscopy and evaluating intraocular pressure in patients with a shallow anterior chamber despite young age. In addition, it also shows the importance of genetic screening, when available, in elucidating the diagnosis and providing patients and their families' information on the patient's prognosis and possible therapeutic options.
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