A New Variant in the PRPF6 Gene Leading to Retinitis Pigmentosa: A Case Report

We report on a case of a 34-year-old Hispanic female patient with a medical history of diabetes mellitus, thyroid disease, and cataract surgery in the right eye, who was evaluated due to progressive vision loss in both eyes. The patient had waxy pallor of the optic disc, vessel attenuation, retinal pigment epithelium (RPE) degeneration, and bony spicules OU. These findings are compatible with a diagnosis of retinitis pigmentosa (RP). Gene sequencing and deletion/duplication analysis were performed. The patient was positive for a heterozygous mutation in the PRPF6 gene with the variant c.2228C>T (p.Thr743Ile). This PRPF6 variant was reported as a variant of unknown significance. The Combined Annotation Dependent Depletion (CADD) score of this PRPF6 variant is 23.5, which strengthens the idea that it could potentially be associated with RP. To our knowledge, this is the first case reported on an RP patient with the PRPF6 variant c.2228C>T (p.Thr743Ile). Our case suggests that this PRPF6 variant may be associated with bilateral RP. Further molecular studies are warranted to better understand the molecular changes in the PRPF6 gene leading to RP.