Retinitis Pigmentosa (Non-syndromic)

  • Stephen H. Tsang
  • Tarun SharmaEmail author
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1085)


  • Most of the genes causing autosomal recessive retinitis pigmentosa (AR-RP) are rare and cause 1% of all cases.

  • Some of the genes, like PDE6 (PDE6A, PDE6B, PDE6G), RP25, and RPE65, have higher prevalence, about 2–5% of all cases.

  • Overall, autosomal recessive RP accounts for about 15–20% of all cases of RP.

  • Clinically, it shows all the classic features of RP, such as attenuated retinal blood vessels, intraretinal pigmentation, waxy pallor of the optic disc, and hyperfluorescent rings on fundus autofluorescence (FAF) (Figs. 25.1, 25.2 and 25.3). The ring is suggestive of increased metabolic burden of the corresponding retinal pigment epithelium (RPE).


Autosomal recessive Retinitis pigmentosa 

Suggested Reading

  1. Bravo-Gil N, González-Del Pozo M, Martín-Sánchez M, Méndez-Vidal C, Rodríguez-de la Rúa E, Borrego S, et al. Unravelling the genetic basis of simplex retinitis pigmentosa cases. Sci Rep. 2017;7:41937.CrossRefGoogle Scholar
  2. McGuigan DB, Heon E, Cideciyan AV, Ratnapriya R, Lu M, Sumaroka A, et al. EYS mutations causing autosomal recessive retinitis pigmentosa: changes of retinal structure and function with disease progression. Genes (Basel). 2017;8:E178.CrossRefGoogle Scholar
  3. Sharon D, Banin E. Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. Mol Vis. 2015;21:783–92.PubMedPubMedCentralGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia UniversityNew YorkUSA
  2. 2.Department of Ophthalmology, Columbia UniversityEdward S. Harkness Eye Institute, NewYork-Presbyterian HospitalNew YorkUSA

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