Abstract
Purpose :
Inherited retinal diseases (IRDs) are a group of rare genetic conditions that lead to degenerative vision loss. Current literature gaps exist around the lived experience of Canadian individuals with IRDs and the associated impacts on health usage, policy, and care. This study aims to understand the physical, psychosocial, and practical challenges faced by those with lived experience, and to identify areas of need and reform from a medical, health policy, and social care perspective.
Methods :
This sequential mixed method study comprised an online survey of Canadians living with or caring for someone with an IRD. Survey data fields included demographics, self-reported vision, genetic testing, information needs and preferences, healthcare management and experiences, treatment goals, and disease impact on productivity and social functioning. Recruitment occurred through Fighting Blindness Canada’s patient database, filtering by disease-type. Survey dissemination also occurred via social media, newsletters, and not-for-profit stakeholder organizations to their constituents. A subset of respondents also participated in telephone interviews to more deeply explore the burden of their condition.
Results :
Between March and June 2020, 408 individuals (mean age = 51.4 yrs ± 16.7; male = 45.7%) participated in our survey. Respondents identified having one of over 14 IRDs, with 72% specifying retinitis pigmentosa. 68% reported being legally blind. Having an IRD had significant impacts on daily functioning, with 53% of participants indicating affected employment or education and 43% specifying a severe or very severe impact on mobility. Psychological burdens were evident: >70% worried about coping with daily life and 68% indicated frequent feelings of depression and hopelessness. Interviewees described their most significant disease impacts being loss of independence and challenges with social interaction. Despite this, the majority of respondents had not accessed support services, including counseling, mobility training or career support, due to a lack of awareness and/or access.
Conclusions :
Our study describes the Canadian IRD community, including support network and impact of vision loss on daily activities and wellbeing. This data highlights the pronounced psychosocial burden that IRDs have on Canadian patients and families while elucidating unmet need for treatments, awareness, and support.
This is a 2021 ARVO Annual Meeting abstract.