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Nearly
%

of people with inherited retinal diseases view genetic testing as a positive step toward eye health1

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  • 1. 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.
  • 2. Neiweem AE, Hariprasad SM, Ciulla TA. Genetic testing prevalence, guidelines, and pitfalls in large, university-based medical systems. Ophthalmic Surg Lasers Imaging Retina. 2021;52(1):6-10.
  • 3. Lee K, Garg S. Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies. Genet Med. 2015;17(4):245-252.
  • 4. 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.
  • 5. Haer-Wigman L, van Zelst-Stams WA, Pfundt R, et al. Diagnostic exome sequencing in 266 Dutch patients with visual impairment. Eur J Hum Genet. 2017;25(5):591-599.
  • 6. 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.
  • 7. Trapani I, Banfi S, Simonelli F, Surace EM, Auricchio A. Gene therapy of inherited retinal degenerations: prospects and challenges. Hum Gene Ther. 2015;26(4):193-200.
  • 8. 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
  • 9. Tatour Y, Ben-Yosef T. Syndromic inherited retinal diseases: genetic, clinical and diagnostic aspects. Diagnostics (Basel). 2020;10(10):779.
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