OBJECTIVES: To understand the pathways by which European patients with X-linked retinitis pigmentosa (XLRP) arrive at retina specialists (RS) and geneticists for diagnosis, and the impact of COVID-19 on patient management.

METHODS: The EXPLORE XLRP 1 survey interviewed RS (n=20) and geneticists (n=5) in France, Germany, Italy, Spain, and the United Kingdom (UK) to record information about healthcare pathways and diagnostic approaches for patients with XLRP (n=80).

RESULTS: Patients (mostly male [91%] and aged 18–40 years [57%]) experienced an average time of 4 years between XLRP symptoms and diagnosis. In France, Spain, and Italy, patient pathways are linear: most patients see RS/geneticists by ophthalmologist referral. In Germany and the UK, patients see RS/geneticists through multiple routes, also including general practitioner and optometrist referrals. Genetic testing was used as part of XLRP diagnosis in 78% of patients. Genetic testing usually took >6 weeks to receive results, and some patients waited up to 6 months. Genetic testing was fully reimbursed for most patients, except those in Spain, where patients largely incurred the full cost. In the UK, testing costs were co-paid by 14% of patients. Despite barriers to genetic testing (e.g., costs, long waiting times for results), physicians agreed that genotypic diagnosis is helpful to predict disease progression and to enable patient involvement in clinical trials. The COVID-19 pandemic reduced the frequency of in-person clinic visits, but some physicians utilized tele-consultation and remote patient management.

CONCLUSIONS: The pathways by which patients with XLRP in Europe visit RS and geneticists are complex, lengthy, and vary considerably by country. This survey reported high usage of genetic testing to confirm XLRP diagnosis, but long waiting times for test results accounts for incomplete uptake, especially among older patients. Tele-consultations and remote management have emerged as potential solutions for monitoring patients during the COVID-19 pandemic.