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.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
(2014) Facts about retinitis pigmentosa. National Eye Institute
(2017) Background on Biallelic RPE65 mutation-associated retinal dystrophy. Spark Therapeutics Briefing Document: 35–40
(2017) Figure 13: The role of RPE65 in the visual cycle. Spark Therapeutics Briefing Document: 36
Hamel C (2006) Retinitis Pigmentosa. Orphanet J Rare Dis
Hartong DT et al (2006) Retinitis pigmentosa. Lancet 368:1795–1809
Retinitis Pigmentosa; RP #268000. OMIM Database
Gene cards: human gene database. Weizmann Institute of Science
Gu SM et al (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet 17:194–197
Zhao et al. (1995) Letter. Ophthalmology Genetics: 75–76
Mansergh FC et al (1999) Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene. Am J Hum Genet:971–985
(2017) Usher syndrome. Genetics Home Reference, NIH
(2013) Bardet-Biedel syndrome. Genetics Home Reference, NIH
(2013) Alport syndrome. Genetics Home Reference, NIH
(2011) Kearns Sayre syndrome. Genetics Home Reference, NIH
(2018) Abetalipoproteinemia. Genetics Home Reference, NIH
(2015) McLeod syndrome. Genetics Home Reference, NIH
(2016) Refsum disease. Genetics Home Reference, NIH
(2018) Laurence-Moon syndrome. National Organization for Rare Disorders
(2016) Cockayne syndrome. Genetics Home Reference, NIH
(2014) Alstrom syndrome. Genetics Home Reference, NIH
(2017). Leber congenital amaurosis. National Organization of Rare Diseases
Karma A et al (1993) Secondary retinitis pigmentosa and cerebral demyelination in Lyme borreliosis. Br J Ophthalmol 77:120–122
Masugi J et al (1994) Pigmentary retinopathy with nephrotic syndrome, Menetrier’s disease, and diabetes mellitus. Intern Med 33:644–648
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Ethics declarations
Stephen H. Tsang receives financial support from Abeona Therapeutics, Inc and Emendo. He is also the founder of Rejuvitas and is on the scientific and clinical advisory board for Nanoscope Therapeutics.
Rights and permissions
Copyright information
© 2023 The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature
About this protocol
Cite this protocol
Breazzano, M.P., Grewal, M.R., Tsang, S.H., Chen, R.W.S. (2023). Etiology of Retinitis Pigmentosa. In: Tsang, S.H., Quinn, P.M. (eds) Retinitis Pigmentosa. Methods in Molecular Biology, vol 2560. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-2651-1_2
Download citation
DOI: https://doi.org/10.1007/978-1-0716-2651-1_2
Published:
Publisher Name: Humana, New York, NY
Print ISBN: 978-1-0716-2650-4
Online ISBN: 978-1-0716-2651-1
eBook Packages: Springer Protocols