Qualitative interviews with patients and caregivers regarding visual function impairments and impacts on vision-dependent activities of daily living and health-related quality of life in RPE65-related Retinitis Pigmentosa and Leber Congenital Amaurosis

Abstract

Purpose : Inherited retinal degenerative disorders (IRD) such as Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA) can be caused by mutations in the RPE65 gene. These mutations cause visual function impairments which have significant impacts on patients’ vision-dependent activities of daily living (ADL) and broader health-related quality of life (HRQoL). There is limited evidence on the patient experience of RP more broadly and no known genotype-specific experiences. This study aimed to explore the experience of RPE65-related RP/LCA from patient and caregiver perspectives.

Methods : Semi-structured qualitative concept elicitation interviews were conducted with 11 patients (7 adults, 1 adolescent, 3 children aged 6-11 years) and 5 caregivers of children aged 3-11 years in the US, Germany and France. Patients had a clinical and genetic diagnosis of RPE65-related RP/LCA. Thematic analysis of verbatim interview transcripts was performed.

Results : Night blindness, reduced peripheral vision and problems with color vision were the most frequently reported visual function symptoms of RPE65-related RP/LCA. Proximal vision-dependent impacts included limitations to mobility and ADLs. White cane and low vision assistive devices were visual aids used by adults, adolescents and children. Participants reported impacts on HRQoL domains including emotional well-being, social, financial, and work/school functioning. Severity of limitations varied based on lighting conditions and familiarity of environment. Overall, similar concepts were reported across all participant groups.

Conclusions : These findings provide in-depth insight into the visual function symptoms and impacts on vision-dependent ADLs and broader HRQoL associated with RPE65-related RP/LCA. Findings are largely consistent with evidence generated thus far in other RP genotypes, and suggest that the visual function symptoms and impacts relevant to measure in clinical studies are consistent across RP/LCA genotypes. Interview findings contributed to the development of patient- and observer-reported outcome measures specific to RP (including RPE65-related RP/LCA) designed for use in clinical trials and to track disease severity in clinical practice.

This is a 2021 ARVO Annual Meeting abstract.