Autosomal Dominant Retinitis Pigmentosa

Stephen H Tsang; Tarun Sharma

doi:10.1007/978-3-319-95046-4_15

Autosomal Dominant Retinitis Pigmentosa

Adv Exp Med Biol. 2018:1085:69-77. doi: 10.1007/978-3-319-95046-4_15.

Authors

Stephen H Tsang^{1

2}, Tarun Sharma³

Affiliations

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 University, New York, NY, USA.
² Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.
³ Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA. ts3118@cumc.columbia.edu.

PMID: 30578488
DOI: 10.1007/978-3-319-95046-4_15

Abstract

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%.

Keywords: Autosomal dominant; Retinitis pigmentosa.

Publication types

Review

MeSH terms

Genes, Dominant
Genetic Diseases, X-Linked / physiopathology
Heredity
Humans
Mutation
Retinitis Pigmentosa / genetics
Retinitis Pigmentosa / physiopathology*