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Dans une enquête britannique, 90 % des personnes atteintes de maladies rétiniennes héréditaires avaient une opinion positive* des tests génétiques7

  • 1. AAO Quality of Care Secretariat, Hoskins Center for Quality Eye Care. « Recommendations on Clinical Assessment of Patients with Inherited Retinal Degenerations – 2016. » Consulté le 26 juillet 2021. https://www.aao.org/clinical-statement/recommendations-on-clinical-assessment-of-patients
  • 2. 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.
  • 3. Lee KY, Garg S. Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies. Genet Med. 2015;17(4):245-252.
  • 4. Blain, D, Goetz, KE, Ayyagari, R, Tumminia, SJ. eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing. Clin Gen. 2013;84(2):190-7.
  • 5. Méjécase C, Malka S, Guan Z, et al. Practical guide to genetic screening for inherited eye diseases. Ther Adv Ophthalmol. 2020 Sep 22;12:2515841420954592.
  • 6. 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.
  • 7. Tatour Y, Ben-Yosef T. Syndromic inherited retinal diseases: genetic, clinical and diagnostic aspects. Diagnostics (Basel). 2020;10(10):779.
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