OBJECTIVES: To understand the impact of X-linked retinitis pigmentosa (XLRP) on patients’ working status, independence/autonomy, and quality of life (QoL).

METHODS: The EXPLORE XLRP 1 survey interviewed retina specialists (n=20) and geneticists (n=5) in France, Germany, Italy, Spain, and the United Kingdom (UK) to provide insights on a real-world sample of patients with XLRP (n=80).

RESULTS: Patients with XLRP were mostly male (91%), aged 18–40 years (57%), and lived with their families (79%). Retina specialist visits involved travel to a different city for 65% of patients. Patient independence decreased over time, from 37% being ‘completely autonomous’ at diagnosis (2% were ‘completely dependent’ on family/friends), to 23% at their most recent consultation (10% were ‘completely dependent’). At their last visit, 45% of patients were active in the workforce, of whom 43% worked full-time, 24% worked part-time, and 13% participated in disability work. Workforce participation was related to independence/autonomy: 67% of ‘completely autonomous’ patients were active, compared with 13% of ‘completely dependent’ patients. Validated QoL instruments were administered to 23% of patients (QoL was often evaluated informally). Social/emotional/psychological support was provided to 94% of the patients in the UK but to <20% of the patients in France, Spain, Germany, and Italy. Clinical experts agreed that the patients most in need of new XLRP treatment options are younger patients in early stages of the disease: delay of disease progression in these patients would have the greatest effect on preserving visual acuity and QoL.

CONCLUSIONS: Patients with XLRP in this survey require assistance and travel to visit retina specialists. Fewer than 50% of patients are active in the workforce, and work status is impacted by disease progression and reduced patient autonomy. Unmet needs in XLRP management include more standardized QoL assessment, improved and earlier access to patient support programs, and better treatment options.