OBJECTIVES: To understand the pathways by which European patients with X-linked retinitis pigmentosa (XLRP) reach retina specialists/ophthalmologists/geneticists for genetic testing and diagnosis.

METHODS: Retina specialists/ophthalmologists (n=15) with experience managing XLRP and geneticists (n=3) in Austria, Belgium, Denmark, Finland, the Netherlands, Norway, Sweden, and Switzerland were interviewed to gain quantitative and qualitative real-world insights on their patients with XLRP (n=47).

RESULTS: In these countries, XLRP is usually diagnosed by retina specialists (47%) or ophthalmologists (26%); patients (mostly male [70%] and aged 18–49 years [75%]) often consulted several healthcare providers before a retina specialist confirmed XLRP diagnosis. Diagnostic tools used when XLRP was suspected included visual acuity testing (77%), optical coherence tomography (70%), and static perimetry (64%). Genetic testing confirmed XLRP diagnosis in 85% of patients. Younger patients (particularly those aged <18 years) and those with early-stage XLRP (defined by nyctalopia/night blindness) were more likely to undergo genetic testing. Only 15% of patients were not confirmed with genetic testing, but only 1 in 3 families underwent testing; reasons for refusal included lack of knowledge, fear of test results, and no treatment available. Patients reported an average of 3 years between onset of XLRP symptoms and genetic diagnosis. Retina specialists/ophthalmologists estimated that it took 2–3 months to receive test results, whereas geneticists estimated this took 1 month. Reasons for testing delays included patient awareness/access and lack of reimbursement of testing costs by insurance providers. Genetic testing awareness, usage, and type of test differ among countries; for example, some countries do not have easy access to RPGR-ORF15 variant testing.

CONCLUSIONS: Complex diagnostic/referral pathways result in delayed referral to retina specialists and diagnosis of XLRP. Although few patients refuse genetic testing, there is a need to improve awareness of and access to testing, particularly among family members.