Retinitis Pigmentosa in a Patient With a Homozygous Mutation in the RBP3 Gene: A Case Report

Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by progressive degeneration of the retina, leading to vision impairment. This report presents the case of a 56-year-old female patient with advanced RP caused by a homozygous genetic alteration affecting the RBP3 gene, specifically the c.802 A>T (p.Lys268*) variant. Our patient exhibited classic symptoms of night blindness, bilateral progressive vision loss, and a family history of similar symptoms. Ophthalmic evaluation, including optical coherence tomography (OCT), visual field testing, electroretinography (ERG), fluorescein angiography (FA), and genetic analysis, confirmed the diagnosis of advanced RP. Genetic testing identified the pathogenic homozygous mutation in the RBP3 gene, which, to our knowledge, has not been previously reported in the literature. This case highlights the importance of genetic testing in diagnosing retinal dystrophies, as well as the need for further studies to explore the full spectrum of RBP3-related retinal conditions.