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  • 1. Méjécase C, Malka S, Guan Z, Slater A, Arno G, Moosajee M. Practical guide to genetic screening for inherited eye diseases. Ther Adv Ophthalmol. 2020;12:1-28.
  • 2. Foundation Fighting Blindness. Genetic testing for retinal degenerative diseases: information and resources for affected individuals, families and health care providers. Accessed September 13, 2023. https://www.fightingblindness.org/genetic-testing-for-retinal-degenerative-diseases-information-and-resources-for-affected-individuals-families-and-health-care-providers
  • 3. Branham K, Schlegel D, Fahim AT, Jayasundera KT. Genetic testing for inherited retinal degenerations: triumphs and tribulations. Am J Med Genet C Semin Med Genet. 2020;184(3):571-577.
  • 4. AAO Quality of Care Secretariat, Hoskins Center for Quality Eye Care. Guidelines on clinical assessment of patients with inherited retinal degenerations – 2022. Updated October 2022. Accessed September 13, 2023. https://www.aao.org/education/clinical-statement/guidelines-on-clinical-assessment-of-patients-with
  • 5. 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(9):1148-1154.
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  • 7. Coco-Martin RM, Diego-Alonso M, Orduz-Montaña WA, Sanabria MR, Sanchez-Tocino H. Descriptive study of a cohort of 488 patients with inherited retinal dystrophies. Clin Ophthalmol. 2021;15:1075-1084.
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  • 9. Genetic testing. Centers for Disease Control and Prevention. Updated June 24, 2022. Accessed September 13, 2023. https://www.cdc.gov/genomics/gtesting/genetic_testing.htm
  • 10. Chiang J (Pei-Wen), Gorin MB. Challenges confronting precision medicine in the context of inherited retinal disorders. Expert Rev Precis Med Drug Dev. 2016;1(2):195-205.
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