X-Linked Retinitis Pigmentosa Impacts Patients’ Independence, Work Status, and Quality of Life: Insights from the Cross-Sectional Explore Xlrp-1.2 Physician Survey

OBJECTIVES: To understand unmet needs in managing X-linked retinitis pigmentosa (XLRP) and evaluate its impact on patients’ independence/autonomy, work status, and quality of life (QoL).

METHODS: In the EXPLORE XLRP-1.2 survey, retina specialists/ophthalmologists with experience managing XLRP (n=15) and geneticists (n=3) in Austria, Belgium, Denmark, Finland, the Netherlands, Norway, Sweden, and Switzerland were interviewed to elicit insights on disease manifestations and impacts in their patients with XLRP (n=47).

RESULTS: Most patients with XLRP were male (70%) and aged 18–49 years (75%); 17% lived alone (53% lived with family) and 19% were employed (32% were students; 11% were retired/on disability). Furthermore, 34% of patients were ‘completely independent’, while 40% were ‘somewhat or completely dependent’ on family/friends. Independence decreased with XLRP progression: 79% of early-stage patients (defined by nyctalopia/night blindness) were ‘completely autonomous’, and 91% of late-stage patients (with central visual impairment/blindness) were ‘completely or somewhat dependent’. Specialist visits involved travel to a different city for 49% of patients, usually requiring support from family members. With declining independence, patients were less active in the workplace, especially those ‘completely dependent’ on friends/family. However, healthcare providers were unaware of independence and employment status for 36% of patients. Social/emotional/financial support was offered to 47% of patients, varying by country. Despite the impact of XLRP on patients’ lives, only 28% of specialists reported monitoring QoL; most only monitor XLRP progression, manage symptoms, and provide visual aids. Clinical experts agreed that lack of treatment options and a standard XLRP management plan are key unmet needs; better access to resources/information, emotional support, and genetic counselling are also needed.

CONCLUSIONS: Patients with XLRP require considerable assistance; as XLRP progresses, patients’ independence declines and they are less active in the workplace. Unmet needs in XLRP management include new treatment options, improved access to resources/information, and routine monitoring of QoL.