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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.
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      References

        • Duncan JL
        • Pierce EA
        • Laster AM
        • et al.
        Inherited retinal degenerations: current landscape and knowledge gaps.
        Trans Vis Sci Tech. 2018; 7 (–6): 6
        • Hafler BP.
        Clinical progress in inherited retinal degenerations: gene therapy clinical trials and advances in genetic sequencing.
        Retina. 2017; 37: 417-423
        • Perea-Romero I
        • Gordo G
        • Iancu IF
        • et al.
        Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
        Sci Rep. 2021; 11: 1526
        • Hartong DT
        • Berson EL
        • Dryja TP.
        Retinitis pigmentosa.
        Lancet. 2006; 368: 1795-1809
        • Tatour Y
        • Ben-Yosef T.
        Syndromic inherited retinal diseases: genetic, clinical and diagnostic aspects.
        Diagnostics. 2020; 10: 779
        • Patel U
        • Boucher M
        • de Léséleuc L
        • Visintini S.
        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
        • Nayeni M
        • Dang A
        • Mao AJ
        • Malvankar-Mehta MS.
        Quality of life of low vision patients: a systematic review and meta-analysis.
        Can J Ophthalmol. 2021; 56: 151-157
        • Hinds A
        • Sinclair A
        • Park J
        • Suttie A
        • Paterson H
        • Macdonald M.
        Impact of an interdisciplinary low vision service on the quality of life of low vision patients.
        Br J Ophthalmol. 2003; 87: 1391-1396
        • Langelaan M
        • de Boer MR
        • van Nispen RMA
        • Wouters B
        • Moll AC
        • van Rens GHMB.
        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
        • Chia E-M
        • Wang JJ
        • Rochtchina E
        • Smith W
        • Cumming RR
        • Mitchell P.
        Impact of bilateral visual impairment on health-related quality of life: the Blue Mountains Eye Study.
        Invest Ophthalmol Vis Sci. 2004; 45: 71-76
        • Gong J
        • Cheung S
        • Fasso-Opie A
        • et al.
        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
      1. 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.

        • Hanany M
        • Rivolta C
        • Sharon D.
        Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases.
        Proc Natl Acad Sci U S A. 2020; 117: 2710-2716
        • Sahel J-A
        • Marazova K
        • Audo I.
        Clinical characteristics and current therapies for inherited retinal degenerations.
        Cold Spring Harb Perspect Med. 2016; 5a017111
      2. 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.

        • Prem Senthil M
        • Khadka J
        • Gilhotra JS
        • Simon S
        • Pesudovs K
        Exploring the quality of life issues in people with retinal diseases: a qualitative study.
        J Patient Rep Outcomes. 2017; 1: 15
        • Coyle CE
        • Steinman BA
        • Chen J.
        Visual acuity and self-reported vision status: their associations with social isolation in older adults.
        J Aging Health. 2017; 29: 128-148
        • Whillans J
        • Nazroo J.
        Assessment of visual impairment: the relationship between self-reported vision and “gold-standard” measured visual acuity.
        Br J Vis Impair. 2014; 32: 236-248
        • Combs R
        • McAllister M
        • Payne K
        • et al.
        Understanding the impact of genetic testing for inherited retinal dystrophy.
        Eur J Hum Genet. 2013; 21: 1209-1213
        • Willis TA
        • Potrata B
        • Ahmed M
        • et al.
        Understanding of and attitudes to genetic testing for inherited retinal disease: a patient perspective.
        Br J Ophthalmol. 2013; 97: 1148-1154
        • Loss J
        • Müller D
        • Weigl J
        • et al.
        Views of ophthalmologists on the genetics of age-related macular degeneration: results of a qualitative study.
        PLoS One. 2018; 13e0209328
        • Ganne P
        • Garrioch R
        • Votruba M.
        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
        • Combs R
        • Hall G
        • Payne K
        • et al.
        Understanding the expectations of patients with inherited retinal dystrophies.
        Br J Ophthalmol. 2013; 97: 1057-1061
        • Naufal F
        • Gajwani P
        • Medina R
        • Dutson M
        • Mariotti SP
        • West SK.
        Knowledge of patient emotional health status: impact on clinical care in glaucoma and retinal services.
        BMJ Open Ophthalmol. 2021; 6e000640
      3. 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.

        • Chaumet-Riffaud AE
        • Chaumet-Riffaud P
        • Cariou A
        • et al.
        Impact of retinitis pigmentosa on quality of life, mental health, and employment among young adults.
        Am J Ophthalmol. 2017; 177: 169-174
        • Yioti G
        • Stefaniotou M
        • Ziavrou I
        • Kotsis K
        • Hyphantis T.
        Illness perceptions, psychiatric manifestations, and quality of life in patients with inherited retinal dystrophies.
        Semin Ophthalmol. 2017; 32: 428-437
        • Hamblion EL
        • Moore AT
        • Rahi JS.
        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
        • Saelaert M
        • Mertes H
        • Moerenhout T
        • Van Cauwenbergh C
        • Leroy BP
        • Devisch I
        • De Baere E.
        A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings.
        Sci Rep. 2021; 11: 1-9