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- 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.
- 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/.
- 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: Retina-UK-sight-loss-survey-report-SelfComms-FINAL.pdf.
- 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