OBJECTIVES: RLBP1 retinitis pigmentosa (RP) is a rare inherited retinal degeneration caused by biallelic mutations in the RLBP1 gene. Visual impairments associated with RP result in significant impacts on patients’ vision-dependent activities of daily living (ADL) and broader health-related quality of life (HRQoL). However, there is a paucity of research exploring the patient experience of RP in general and RLBP1 RP. The objective of this qualitative study was to explore the experience of RLBP1 RP from the patient perspective in Canada.

METHODS: Semi-structured qualitative concept elicitation telephone interviews were conducted with eight Canadian RLBP1 RP adult patients at a site in Newfoundland. All patients had a genetic diagnosis of RLBP1 RP. Qualitative thematic analysis of verbatim interview transcripts was performed. Findings contributed to refinement of a conceptual model of RP detailing relevant visual function symptom and impact measurement concepts.

RESULTS: All eight RLBP1 RP patients (33-70 years) reported experiencing night blindness, reduced peripheral vision, difficulty seeing in very bright lighting and difficulty adapting to new lighting conditions. Visual function symptoms led to proximal vision-dependent impacts on mobility and ADLs. Visual aids commonly used included sunglasses, white cane and assistive devices. Impacts on broader HRQoL domains included social functioning, emotional well-being, work/school functioning and financial. Visual functioning and impacts on vision-dependent activities were moderated by lighting conditions and familiarity of environment.

CONCLUSIONS: Findings from this study provide in-depth insights into the visual function symptoms and impacts on vision-dependent ADLs and broader HRQoL experienced by RLBP1 RP patients. Results are consistent with evidence generated in other RP genotypes and suggest that the experience of RP is similar across different mutations, such as RPE65 and RPGR. Interview findings supported the development of a RP specific patient-reported outcome instrument for use in clinical trials and to track disease severity in future clinical practice.