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COMPLEXITIES IN DIAGNOSING INHERITED RETINAL DISEASES

Nearly
%

of patients with retinitis pigmentosa have no known family history of retinal disease22

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  1. Lee K, Garg S. Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies. Genet Med. 2015;17(4):245-252.
  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. Genes implicated in photoreceptor disorders. American Academy of Ophthalmology. Accessed August 8, 2021. https://www.aao.org/image/genes-implicated-in-photoreceptor-disorders
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  10. Usher syndrome. National Eye Institute. National Institutes of Health. Accessed June 5, 2021. https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/usher-syndrome
  11. Stargardt macular degeneration. MedlinePlus genetics. National Institutes of Health. Accessed June 5, 2021. https://medlineplus.gov/genetics/condition/stargardt-macular-degeneration/
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  13. Cone-rod dystrophy. MedlinePlus genetics. National Institutes of Health. Accessed June 5, 2021. https://medlineplus.gov/genetics/condition/cone-rod-dystrophy/
  14. Achromatopsia. MedlinePlus genetics. National Institutes of Health. Accessed June 5, 2021. https://medlineplus.gov/genetics/condition/achromatopsia/
  15. Leber congenital amaurosis. MedlinePlus genetics. National Institutes of Health. Accessed June 5, 2021. https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis/
  16. Choroideremia. MedlinePlus genetics. National Institutes of Health. Accessed June 5, 2021. https://medlineplus.gov/genetics/condition/choroideremia/
  17. Bardet-Biedl syndrome. MedlinePlus genetics. National Institutes of Health. Accessed June 5, 2021. https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome/
  18. Forsythe E, Beales PL. Bardet-Biedl syndrome. EurJ Hum Genet. 2013;21(1):8-13.
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  20. 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.
  21. 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.
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  25. 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.
  26. Grigg J, Jamieson R, Chen F, et al; for The Royal Australian and New Zealand College of Ophthalmologists. Guidelines for the assessment and management of patients with inherited retinal diseases (IRD). Accessed July 26, 2021. https://ranzco.edu/wp-content/uploads/2020/05/RANZCO-Guidelines-for-the-assessment-and-management-of-patients-with-inherited-retinal-diseases-lRD.pdf

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