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.
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Article Info
Publication History
Published online: July 26, 2022
Accepted:
June 28,
2022
Received in revised form:
April 5,
2022
Received:
November 28,
2021
Publication stage
In Press Uncorrected ProofIdentification
Copyright
© 2022 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved.
