Skip to main content
Nearly
%

of patients with retinitis pigmentosa have no known family history of retinal disease17

  • 1. Lee K, Garg S. Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies. Genet Med. 2015 Apr;17(4):245-52.
  • 2. Henderson RH. Inherited retinal dystrophies. Paediatr Child Care Health. 2019;30(1):19-27.
  • 3. AAO Quality of Care Secretariat, Hoskins Center for Quality Eye Care. “Recommendations on Clinical Assessment of Patients with Inherited Retinal Degenerations – 2016.” Accessed July 26, 2021. https://www.aao.org/clinical-statement/recommendations-on-clinical-assessment-of-patients
  • 4. Fahim AT, Daiger SP, Weleber RG. Nonsyndromic Retinitis Pigmentosa Overview. 2000 Aug 4 [Updated 2017 Jan 19]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1417/
  • 5. Martinez-Fernandez De La Camara C, Nanda A, et al. ... X-linked retinitis pigmentosa. Expert Opinion Orphan Drugs. 2018;6(3):167-177.
  • 6. Friedman TB, Schultz JM, Ahmed ZM, et al. Usher syndrome: hearing loss with vision loss. Adv Otorhinolaryngol. 2011;70:56-65.
  • 7. Mathur P, Yang J. Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities. Biochim Biophys Acta. 2015 Mar;1852(3):406-20.
  • 8. Tanna P, Strauss RW, Fujinami K, et al. Stargardt disease: clinical features, molecular genetics, animal models ... . British Journal of Ophthalmology 2017;101:25-30.
  • 9. Huang D, et al. Stargardt disease …. Ophthalmic Genet. 2022 Feb;43(1):1-26.
  • 10. Roosing S, Thiadens AA, Hoyng CB, et al. Causes and consequences of inherited cone disorders. Prog Retin Eye Res. 2014 Sep;42:1-26.
  • 11. Zobor D, Zobor G, Kohl S. Achromatopsia ... . Ophthalmic Res. 2015;54(2):103-8.
  • 12. den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008 Jul;27(4):391-419.
  • 13. Roberts MF, Fishman GA, Roberts DK, et al. Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia. Br J Ophthalmol. 2002 Jun;86(6):658-62.
  • 14. Pennesi ME, Birch DG, Duncan JL, et al. CHOROIDEREMIA: Retinal Degeneration ... . Retina. 2019;39(11):2059-2069.
  • 15. Forsythe E, Beales PL. Bardet-Biedl syndrome. Eur J Hum Genet. 2013 Jan;21(1):8-13.
  • 16. Moore SJ, Green JS, Fan Y, et al. Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A. 2005 Feb 1;132A(4):352-60.
  • 17. Prem Senthil M, Khadka J, Gilhotra JS, et al. Exploring the quality of life issues in people with retinal diseases: a qualitative study. J Patient Rep Outcomes. 2017;1(1):15.
  • 18. Moore AT. Genetic testing for inherited retinal disease. Ophthalmology. 2017;124(9):1254-1255.
  • 19. Hu ML, Edwards TL, O'Hare F, Hickey DG, Wang JH, Liu Z, Ayton LN. ... inherited retinal diseases ... . Clin Exp Optom. 2021 May;104(4):444-454.
Janssen Retina home page
Member of Innovative Medicines Canada logo