Autosomal Dominant Retinitis Pigmentosa

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


More than 70 genes (over 3000 mutations) are known to cause non-syndromic retinitis pigmentosa (RP), including autosomal dominant (AD), autosomal recessive (AR), X-linked, and simplex forms (inheritance not known). The AD form accounts for approximately 15–25% of cases; AR, 5–20%; X-linked, 5–15%; and simplex, 40–50%.


Autosomal dominant Retinitis pigmentosa 

Suggested Reading

  1. Borràs E, de Sousa Dias M, Hernan I, Pascual B, Mañé B, Gamundi MJ, et al. Detection of novel genetic variation in autosomal dominant retinitis pigmentosa. Clin Genet. 2013;84:441–52.CrossRefGoogle Scholar
  2. Daiger SP, Sullivan LS, Bowne SJ. Genes and mutations causing retinitis pigmentosa. Clin Genet. 2013;84:132–41.CrossRefGoogle 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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