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Autosomal Dominant Retinitis Pigmentosa
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%.
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“For example, in retinitis pigmentosa (RP), more than 3000 mutations in approximately 70 genes have been implicated in disease pathogenesis, and, in many cases of RP, a genetic basis cannot be identified.34”
From Gene Therapy for Retinal Degenerative Diseases: Progress, Challenges, and Future Directions (2023) · cites this paper as [34]
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Research works printed but not linked: 2
- 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. · DOI
- Daiger SP, Sullivan LS, Bowne SJ. Genes and mutations causing retinitis pigmentosa. Clin Genet. 2013;84:132–41. · DOI
Cited by
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Gene Therapy for Retinal Degenerative Diseases: Progress, Challenges, and Future Directions
Drag, S., Dotiwala, F., & Upadhyay, A. K. (2023) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.64.7.39 · Cited by 145
Atlas of Inherited Retinal Diseases
(2018) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-319-95046-4 · Cited by 62
Metadata
- Authors
- Tsang, S. H., & Sharma, T.
- Affiliations
- NewYork–Presbyterian Hospital (US)
- Corresponding author
- Sharma, Tarun
- Venue
- Advances in Experimental Medicine and Biology
- Publisher
- Springer International Publishing
- Published
- 2018
- Volume
- 1085
- Pages
- 69-77
- ISSN
- 0065-2598 (ISSN-L)
- 2214-8019
- OpenAlex
- W2906621055
- Cited by
- 53
- References
- 0
- Citations by year
- 2026: 1 · 2025: 9 · 2024: 13 · 2023: 5 · 2022: 6 · 2021: 11 · 2020: 4 · 2018: 1
- FWCI
- 5.38
- Type
- book chapter
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Advances in experimental medicine and biology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Keywords
- autosomal dominant retinitis pigmentosa, retinitis pigmentosa, non-syndromic retinitis pigmentosa, genetic mutations, mode of inheritance, autosomal recessive retinitis pigmentosa, X-linked retinitis pigmentosa
- MeSH terms
- Genes, Dominant, Humans, Mutation, Retinitis Pigmentosa, Genetic Diseases, X-Linked, Heredity
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