PRO131 WHAT DO WE KNOW ABOUT PATIENT'S AND CAREGIVERS' EXPERIENCE WHEN LIVING WITH THE HEREDITARY RETINAL CONDITION RETINITIS PIGMENTOSA?

Abstract

Retinitis pigmentosa (RP) is the most common hereditary retinal degenerative condition. Visual impairments associated with RP result in significant impacts on patients’ functional vision and health-related quality of life (HRQoL). However, there is a paucity of research exploring the patient experience of RP. The objective of this qualitative study was to gain a better understanding of the patients’ and caregivers’ experience with RP. Semi-structured qualitative concept elicitation interviews (n=19) were conducted with adults (n=16) and adolescents (n=1) suffering from RP, and with a child-caregiver dyad (n=2) in the USA. All patients had a clinical of RP confirmed by genetic testing. The sample consisted of patients with various RP genotypes: RPGR (n=7); EYS (n=3); PRPF31; USH2A; RHO; and RPE65-related retinal dystrophies (n=2 each). Qualitative analysis of verbatim transcripts was performed using Thematic Analysis methods and Atlas.Ti software. Findings were used develop a conceptual model of RP, and to inform development of patient-reported outcome and observer-reported outcome measures (for future completion by parents/caregivers). The most frequently reported visual function symptoms included night blindness, problems with peripheral vision as well as dark-light adaptation. Severity of visual function limitations varied by light conditions and individual familiarity with environment, and resulted in limited functioning including domains such as navigation, mobility, driving and activities of daily living. Adult and adolescent participants further described their strategies and usage of visual aids to cope with their condition including white cane and low vision assistive devices. Domains of broader HRQoL included emotional, social, financial and work functioning. Similar concepts were reported by the child-caregiver dyad. Patients with RP experience significant visual function symptoms which have substantial impacts on their functional vision and wider HRQoL and are important to assess in clinical studies to characterize treatment benefit.