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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
  • 4. Henderson RH. Inherited retinal dystrophies. J Paediatr Child Health. 2020;30(1):19-27.
  • 5. Retinitis pigmentosa. MedlinePlus genetics. National Institutes of Health. Accessed June 5, 2021. https://medlineplus.gov/genetics/condition/retinitis-pigmentosa/
  • 6. Retinitis pigmentosa. National Eye Institute. National Institutes of Health. Accessed June 5, 2021. https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/retinitis-pigmentosa
  • 7. Wu Z, Hiriyanna S, Qian H, et al. A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration. Hum Mol Genet. 2015;24(14):3956-3970.
  • 8. Martinez-Fernandez De La Camara C, Nanda A, Salvetti AP, Fischer MD, MacLaren RE. Gene therapy for the treatment of X-Iinked retinitis pigmentosa. Expert Opin Orphan Drugs. 2018;6(3):167-177.
  • 9. Usher syndrome. MedlinePlus genetics. National Institutes of Health. Accessed June 5, 2021. https://medlineplus.gov/genetics/condition/ushersyndrome/
  • 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/
  • 12. Stargardt macular degeneration. National Eye Institute. National Institutes of Health. Accessed June 5, 2021. https://www.nei.nih.gov/learnabout-eye-health/eye-conditions-and-diseases/stargardt-disease
  • 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.
  • 19. Prem Senthil M, Khadka J, Gilhotra JS, Simon S, Pesudovs K. Exploring the quality of life issues in people with retinal diseases: a qualitative study. J Patient Rep Outcomes. 2017;1(1):15.
  • 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.
  • 22. Moore AT. Genetic testing for inherited retinal disease. Ophthalmology. 2017;124(9):1254-1255.
  • 23. 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.
  • 24. Birtel J, Yusuf IH, Priglinger C, Rudolph G, Charbel Issa P. Diagnosis of inherited retinal diseases. Klin Monbl Augenheilkd. 2021;238(3):249-259.
  • 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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