Intrafamilial Phenotypic Variability in PRPH2-Related Retinopathy

Purpose This study aimed to describe the intrafamilial phenotypic variability and natural history of a PRPH2-related retinal dystrophy. Methods We performed a retrospective chart review of seven patients from the same family, five of whom had the c.828+3A>T PRPH2 pathogenic variant, characterizing the natural history and intrafamilial phenotypic variation. Results Over the course of nine years, two patients had a deterioration of vision, one had unchanged visual acuity, and four were lost to follow-up after diagnosis. Two patients developed choroidal neovascular membranes. Five family members completed genetic testing. Conclusions In the current case series, we described the various phenotypes associated with the PRPH2 pathogenic variants in related individuals of the same family. We tracked the changes in visual acuity and phenotype in three related patients over five to nine years. Translational relevance Studying the natural history and phenotypic variations of the PRPH2 gene can lead to targeted therapeutic interventions and personalized treatment strategies for affected individuals.