Etiology of Retinitis Pigmentosa

Mark P Breazzano; Maeher R Grewal; Stephen H Tsang; Royce W S Chen

doi:10.1007/978-1-0716-2651-1_2

Etiology of Retinitis Pigmentosa

Methods Mol Biol. 2023:2560:15-30. doi: 10.1007/978-1-0716-2651-1_2.

Authors

Mark P Breazzano¹, Maeher R Grewal², Stephen H Tsang³, Royce W S Chen⁴

Affiliations

¹ Wilmer Eye Institute, Baltimore, MD, USA.
² Edward S. Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA. mrg2198@cumc.columbia.edu.
³ Departments of Opthalmology, Pathology & Cell Biology Graduate Programs in Nutritional & Metabolic Biology and Neurobiology & Behavior Columbia Stem Cell Initiative, New York, NY, USA.
⁴ Edward S. Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA.

PMID: 36481880
DOI: 10.1007/978-1-0716-2651-1_2

Abstract

Retinitis pigmentosa (RP) is a set of symptoms including tunnel vision, night blindness, and progressive vision loss, stemming from a very heterogeneous set of causes-it can result from a several different kinds of mutations (non-syndromic) in conjunction with other symptoms, as part of a larger syndrome (syndromic), or secondary to an organ system disease state (secondary RP). This chapter explores and elucidates these various causes of RP.

Keywords: Bardet–Biedl syndrome; Leber congenital amaurosis; Non-syndromic retinitis pigmentosa; Rhodopsin; Secondary retinitis pigmentosa; Syndromic retinitis pigmentosa; Usher syndrome.

MeSH terms

Humans
Retinitis Pigmentosa* / genetics