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

## TL;DR

Two siblings with CRB1 gene mutations showed retinal issues like night blindness and vision loss, with a first reported case of optic disc neovascularization.

## Contribution

This is the first report of optic disc neovascularization in patients with compound heterozygous CRB1 mutations.

## Key findings

- Compound heterozygous CRB1 mutations were identified in two siblings with retinal dystrophy and neovascularization.
- Optic disc and mid-peripheral retinal neovascularization was observed in CRB1 mutation carriers.
- Phenotypic variability was noted in CRB1-related retinal disease, including macular thickening and loss of retinal layers.

## 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.