References
- Riveiro-Alvarez R, Aguirre-Lamban J, Angel Lopez-Martinez M, Jose Trujillo-Tiebas M, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Ramos C, Ayuso C . Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease. Br J Ophthalmol. 2009;93(10):1359–64.
- Bunker CH, Berson EL, Bromley WC, Hayes RP, Roderick TH. Prevalence of retinitis pigmentosa in maine. Am J Ophthalmol. 1984;97(3):357–65.
- Roborel de Climens A, Tugaut B, Dias Barbosa C, Buggage R, Brun-Strang C. Living with Stargardt disease: insights from patients and their parents. Ophthalmic Genet. 2021;42(2):150–60.
- Mezer E, Babul-Hirji R, Wise R, Chipman M, Dasilva L, Rowell M, Thackray R, Shuman CT, Levin AV . Attitudes regarding predictive testing for retinitis pigmentosa. Ophthalmic Genet. 2007;28(1):9–15.
- Willis TA, Potrata B, Ahmed M, Hewison J, Gale R, Downey L, McKibbin M . Understanding of and attitudes to genetic testing for inherited retinal disease: a patient perspective. Br J Ophthalmol. 2013;97(9):1148–54.
- Garip G, Kamal A. Systematic review and meta-synthesis of coping with retinitis pigmentosa: implications for improving quality of life. BMC Ophthalmol. 2019;19(1):181.
- 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(4):428–37.
- Roborel de Climens A, Tugaut B, Piscopo A, Arnould B, Buggage R, Brun-Strang C. Living with type I Usher syndrome: insights from patients and their parents. Ophthalmic Genet. 2020;41(3):240–51.
- Bong C, Potrata B, Hewison J, McKibbin M. Attitudes of patients and relatives/carers towards genetic testing for inherited retinal disease. Eye. 2010;2410:1622–25.10.1038/eye.2010.91.
- Simonelli F, Sodi A, Falsini B, Bacci G, Iarossi G, Diiorio V, Giorgio D, Placidi G, Andrao A, Reale L, et al. Care pathway of rpe65-related inherited retinal disorders from early symptoms to genetic counseling: a multicenter narrative medicine project in italy. Clin Ophthalmol. 2021;15:4591–605.