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STEPS FOR GENETIC TESTING

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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. AAO Quality of Care Secretariat, Hoskins Center for Quality Eye Care. Recommendations on Clinical Assessment of Patients with Inherited Retinal Degenerations – 2016. Updated June 2016. Accessed July 26, 2021. https://www.aao.org/clinical-statement/recommendations-on-clinical-assessment-of-patients
  3. Moore AT. Genetic testing for inherited retinal disease. Ophthalmology. 2017;124(9):1254-1255.
  4. Genetic testing. Centers for Disease Control and Prevention. Accessed June 5, 2021. https://www.cdc.gov/genomics/gtesting/genetic_testing.htm
  5. Foundation Fighting Blindness. Genetic testing for retinal degenerative diseases: information and resources for affected individuals, families and health care providers. Accessed July 26, 2021. https://www.fightingblindness.org/genetic-testing-for-retinal-degenerative-diseases- information-and-resources-for-affected-individuals-families-and-health-care-providers
  6. 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.
  7. 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.
  8. Combs R, McAllister M, Payne K, et al. Understanding the impact of genetic testing for inherited retinal dystrophy. Eur J Hum Genet. 2013;21(11):1209-1213.
  9. 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.
  10. Tatour Y, Ben-Yosef T. Syndromic inherited retinal diseases: genetic, clinical and diagnostic aspects. Diagnostics (Basel). 2020;10(10):779.
  11. 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.
  12. Suppiej A, Marino S, Reffo ME, et al. Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians. Ital J Pediatr. 2019;45(1):168.
  13. Birtel J, Yusuf IH, Priglinger C, Rudolph G, Charbel Issa P. Diagnosis of inherited retinal diseases. Klin Monbl Augenheilkd. 2021;238(3):249-259.

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