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.
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Canadian Journal of OphthalmologyAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Inherited retinal degenerations: current landscape and knowledge gaps.Trans Vis Sci Tech. 2018; 7 (–6): 6
- Clinical progress in inherited retinal degenerations: gene therapy clinical trials and advances in genetic sequencing.Retina. 2017; 37: 417-423
- Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.Sci Rep. 2021; 11: 1526
- Retinitis pigmentosa.Lancet. 2006; 368: 1795-1809
- Syndromic inherited retinal diseases: genetic, clinical and diagnostic aspects.Diagnostics. 2020; 10: 779
- Voretigene neparvovec: an emerging gene therapy for the treatment of inherited blindness.CADTH issues in emerging health technologies. Canadian Agency for Drugs and Technologies in Health, Ottawa (ON)2016
- Quality of life of low vision patients: a systematic review and meta-analysis.Can J Ophthalmol. 2021; 56: 151-157
- Impact of an interdisciplinary low vision service on the quality of life of low vision patients.Br J Ophthalmol. 2003; 87: 1391-1396
- Impact of visual impairment on quality of life: a comparison with quality of life in the general population and with other chronic conditions.Ophthalmic Epidemiol. 2007; 14: 119-126
- Impact of bilateral visual impairment on health-related quality of life: the Blue Mountains Eye Study.Invest Ophthalmol Vis Sci. 2004; 45: 71-76
- The impact of inherited retinal diseases in the United States of America (US) and Canada from a cost-of-illness perspective.Clin Ophthalmol. 2021; 15: 2855-2866
Deloitte Access Economics. The socioeconomic impact of inherited retinal dystrophies in the United Kingdom. Accessed August 1, 2021. The-socioeconomic-impact-of-inherited-retinal-dystrophies-IRDs-in-the-Republic-of-Ireland.pdf. https://www2.deloitte.com/content/dam/Deloitte/au/Documents/Economics/deloitte-au-economics-cost-illness-irds-uk-030919.pdf. Published August 2019.
- Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases.Proc Natl Acad Sci U S A. 2020; 117: 2710-2716
- Clinical characteristics and current therapies for inherited retinal degenerations.Cold Spring Harb Perspect Med. 2016; 5a017111
Patient Registry for Inherited Retinal Diseases. Fighting Blindness Canada. Patient registry for inherited retinal diseases [yyyy Mon dd]. Accessed July 20, 2021. Available from: www.fightingblindness.ca/resources/patient-registry-for-inherited-retinal-diseases/. Published January 2021.
- Exploring the quality of life issues in people with retinal diseases: a qualitative study.J Patient Rep Outcomes. 2017; 1: 15
- Visual acuity and self-reported vision status: their associations with social isolation in older adults.J Aging Health. 2017; 29: 128-148
- Assessment of visual impairment: the relationship between self-reported vision and “gold-standard” measured visual acuity.Br J Vis Impair. 2014; 32: 236-248
- Understanding the impact of genetic testing for inherited retinal dystrophy.Eur J Hum Genet. 2013; 21: 1209-1213
- Understanding of and attitudes to genetic testing for inherited retinal disease: a patient perspective.Br J Ophthalmol. 2013; 97: 1148-1154
- Views of ophthalmologists on the genetics of age-related macular degeneration: results of a qualitative study.PLoS One. 2018; 13e0209328
- Perceptions and understanding of genetics and genetic eye disease and attitudes to genetic testing and gene therapy in a primary eye care setting.Ophthalmic Genet. 2015; 36: 50-57
- Understanding the expectations of patients with inherited retinal dystrophies.Br J Ophthalmol. 2013; 97: 1057-1061
- Knowledge of patient emotional health status: impact on clinical care in glaucoma and retinal services.BMJ Open Ophthalmol. 2021; 6e000640
Retina UK. Sight loss survey 2019 [Internet]. 2019. Self Communications, London [cited 2021 Aug 1]. Available from: https://retinauk.org.uk/wp-content/uploads/2021/06/Retina-UK-sight-loss-survey-report-SelfComms-FINAL.pdf. Published June 2019.
- Impact of retinitis pigmentosa on quality of life, mental health, and employment among young adults.Am J Ophthalmol. 2017; 177: 169-174
- Illness perceptions, psychiatric manifestations, and quality of life in patients with inherited retinal dystrophies.Semin Ophthalmol. 2017; 32: 428-437
- The health-related quality of life of children with hereditary retinal disorders and the psychosocial impact on their families.Invest Ophthalmol Vis Sci. 2011; 52: 7981-7986
- A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings.Sci Rep. 2021; 11: 1-9
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 Corrected ProofIdentification
Copyright
© 2022 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved.
