Disease burden associated with X-linked retinitis pigmentosa in Canada: a retrospective chart review study

To assess the real-world disease burden among a sample of patients with X-linked retinitis pigmentosa (XLRP) in Canada.

A retrospective, noninterventional chart review.

Canadian ophthalmologists provided information regarding eligible patients aged ≥5 years who had been diagnosed with XLRP for ≥12 months and had ≥1 clinical encounter with the participating ophthalmologist in the last 12 months.

Information on participating ophthalmologists' practice setting and experience managing XLRP and patient information, including demographics, comorbidities, disease characteristics and management, productivity loss, and caregiver burden, were descriptively reported prior to or on patients' latest clinical encounter.

In total, 12 ophthalmologists abstracted information for 36 patients with XLRP (median age: 34 years; 83% male). Among patients aged ≥46 years (n = 11), all patients had severely impaired visual acuity in ≥1 eye and 91% of patients were nearly unable to see in dim light. Most adult patients (n = 30) required assistance with ≥1 activity of daily living (70%), including transportation and shopping (60%) and house cleaning and maintenance (43%). A total of 60% of adults received informal care (mean: 24.0 ± 16.4 hours per week), and 40% were not working due to disability.

These results highlight the substantial real-world burden of XLRP on patients and their caregivers and its progressive nature and increasing impact over time. The study reveals significant unmet needs, including high levels of caregiver support, loss of productivity, and assistance with basic daily activities, emphasizing the need for effective treatments.