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

Etiology of Retinitis Pigmentosa

Mark P Breazzano  1 , Maeher R Grewal  2 , Stephen H Tsang  3 , Royce W S Chen  4
Affiliations

Etiology of Retinitis Pigmentosa

Mark P Breazzano et al. Methods Mol Biol. 2023.

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.

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References

    1. (2014) Facts about retinitis pigmentosa. National Eye Institute
    1. (2017) Background on Biallelic RPE65 mutation-associated retinal dystrophy. Spark Therapeutics Briefing Document: 35–40
    1. (2017) Figure 13: The role of RPE65 in the visual cycle. Spark Therapeutics Briefing Document: 36
    1. Hamel C (2006) Retinitis Pigmentosa. Orphanet J Rare Dis
    1. Hartong DT et al (2006) Retinitis pigmentosa. Lancet 368:1795–1809 - DOI

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