Impact of inherited retinal diseases on Canadian patients and families: a mixed-methods study

Abstract

Objective: To understand the physical, psychosocial, and practical challenges faced by Canadian patients with inherited retinal diseases (IRDs) and their families.

Design: Mixed methods.

Participants: A total of 408 Canadians living with or caring for someone with an IRD (mean age = 51.4 ± 16.7 years) completed an online survey. Twenty cohort respondents participated in additional telephone interviews.

Methods: The online survey was comprised of questions concerning demographics, self-reported vision, genetic testing, information preferences, health care experiences, treatment goals, and disease impact on daily life. Recruitment occurred through Fighting Blindness Canada's community database. Survey dissemination also occurred via social media and not-for-profit stakeholder outreach. Subsequent to survey completion, a subset of respondents participated in semistructured telephone interviews to further elucidate illness experience.

Results: Respondents identified having 1 of more than 14 IRDs, with 72% specifying retinitis pigmentosa. Sixty-eight percent reported being legally blind, and more than 85% self-reported moderate to low vision or worse. IRDs impacted daily functioning, with 53% of respondents indicating that they affected employment or education. Psychological challenges were evident, with more than 70% worried about coping with daily life and more than 60% indicating fear and stress. Qualitative data described hopelessness around suitable work, loss of independence, and challenges with social interaction. Sixty-five percent reported a negative impact on family life. Many had not accessed social support services because of a lack of perceived need, awareness, or availability.

Conclusion: Canadian patients with IRDs report moderate to severe visual impairment, and both patients and their families describe an impact on psychosocial well-being and functioning during daily activities. Vision rehabilitation with a psychosocial approach is necessary, alongside facilitating access to emerging treatments.