The burden of X-linked retinitis pigmentosa (XLRP) on patient experience and patient-reported outcomes (PROs): findings from the EXPLORE XLRP-2 study.

This study explored how X-linked retinitis pigmentosa (XLRP), an inherited eye condition that causes progressive vision loss, affects people’s daily lives and wellbeing. The study included 169 people with XLRP caused by changes in the RPGR gene. On average, people waited around 16 years between their first symptoms and receiving a genetic diagnosis. The findings showed that people with more severe vision loss were more likely to experience difficulties in low light, mobility and everyday activities, as well as depression, unemployment and reduced productivity. These results highlight the wide-ranging impact of XLRP and the importance of recognising and addressing the needs of people at different stages of the condition.

Published in Eye, Nature – Feb, 2025.