LONG-TERM FOLLOW-UP OF PRPH2 -ASSOCIATED RETINAL DYSTROPHY

To report a 13-year follow-up of Peripherin-2 (PRPH2) -associated retinal dystrophy.

A 54-year-old female patient presented with decreased vision and mild metamorphopsia in both eyes since the age of 40 years. A complete evaluation was performed using multimodal imaging techniques.

At presentation, fundus examination revealed multiple irregular pisciform flecks in the posterior pole sparing the peripapillary area in both eyes, as well as some mildly atrophic zones in the perifoveal area. The mildly atrophic areas evolved and merged into a central atrophic zone in the following 10 years, leading to a decreased vision of <20/400 in both eyes. The genetic molecular diagnosis revealed a mutation in PRPH2/RDS gene (NM_000322.4:c.421T>C ( p .Tyr141His)). Based on genetics, imaging, and clinical findings, a diagnosis of multifocal pattern dystrophy simulating Stargardt disease 1/fundus flavimaculatus was evoked. Her mother was found to have the same gene mutation, with multiple irregular pisciform flecks in the posterior pole associated with central areolar choroidal dystrophy.

This report demonstrated the 13-year progression of multifocal pattern dystrophy simulating Stargardt disease 1/fundus flavimaculatus in a patient with a pathogenic variant of the PRPH2/RDS gene (NM_000322.4:c.421T>C ( p .Tyr141His)).