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

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 <i>CRB1</i> gene in both patients. This case underscores the phenotypic variations in patients with mutations in <i>CRB1</i>. 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.