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Retinitis Pigmentosa and Retinal Neovascularization in a Patient With a Heterozygous Mutation in the CRB1 Gene: A Case Report

Year: 2025

Type: article

Abstract: This report describes the cases of two siblings who both experienced reduced visual acuity in both eyes since adolescence, along with night blindness and progressive peripheral vision loss. Fundus photography revealed a “salt-and-pepper” appearance around the macula, consistent with rod-cone dystrophy, while fluorescein angiography showed neovascularization of the optic disc and mid-peripheral retina. Optical coherence tomography showed parafoveal macular thickening, mild intraretinal fluid, and loss of the inner segment/outer segment layer. Genetic testing identified a compound heterozygous mutation in the CRB1 gene in both patients. This case underscores the phenotypic variations in patients with mutations in CRB1. To our knowledge, this is the first report of optic disc neovascularization in CRB1 compound heterozygotes. Further phenotypic and genotypic evaluations are necessary to assess ocular complications in patients with retinitis pigmentosa, including those involving retinal pigment epithelium atrophy.

Source: Cureus

DOI: 10.7759/cureus.82814

Authors: Joel Castro, Andres Emanuelli, Natalio Izquierdo

Institutions: University of Puerto Rico at Arecibo, University of Puerto Rico, Medical Sciences Campus, University of Puerto Rico System

Language: English

Topic: Retinal Development and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4409712698