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Autosomal recessive retinitis pigmentosa

MedGen UID:
573214
Concept ID:
C0339526
Congenital Abnormality
SNOMED CT: Autosomal recessive retinitis pigmentosa (232053004)

Professional guidelines

PubMed

Kuehlewein L, Straßer T, Blumenstock G, Stingl K, Fischer MD, Wilhelm B, Zrenner E, Wissinger B, Kohl S, Weisschuh N, Zobor D; RD-CURE Consortium
Invest Ophthalmol Vis Sci 2022 May 2;63(5):9. doi: 10.1167/iovs.63.5.9. PMID: 35533076Free PMC Article
Patal R, Banin E, Batash T, Sharon D, Levy J
Graefes Arch Clin Exp Ophthalmol 2022 Nov;260(11):3471-3478. Epub 2022 May 2 doi: 10.1007/s00417-022-05683-w. PMID: 35501492
Hufnagel RB, Liang W, Duncan JL, Brewer CC, Audo I, Ayala AR, Branham K, Cheetham JK, Daiger SP, Durham TA, Guan B, Heon E, Hoyng CB, Iannaccone A, Kay CN, Michaelides M, Pennesi ME, Singh MS, Ullah E; Foundation Fighting Blindness Consortium Investigator Group
Hum Mutat 2022 May;43(5):613-624. Epub 2022 Mar 21 doi: 10.1002/humu.24365. PMID: 35266249Free PMC Article

Recent clinical studies

Therapy

Nolan ND, Jenny LA, Tsang SH, Cui X
Adv Exp Med Biol 2023;1415:403-408. doi: 10.1007/978-3-031-27681-1_59. PMID: 37440064
Jackson DJ, Dubis AM, Moosajee M
Int J Mol Sci 2022 Jun 17;23(12) doi: 10.3390/ijms23126785. PMID: 35743231Free PMC Article
Hufnagel RB, Liang W, Duncan JL, Brewer CC, Audo I, Ayala AR, Branham K, Cheetham JK, Daiger SP, Durham TA, Guan B, Heon E, Hoyng CB, Iannaccone A, Kay CN, Michaelides M, Pennesi ME, Singh MS, Ullah E; Foundation Fighting Blindness Consortium Investigator Group
Hum Mutat 2022 May;43(5):613-624. Epub 2022 Mar 21 doi: 10.1002/humu.24365. PMID: 35266249Free PMC Article
Downes SM, Nguyen T, Tai V, Broadgate S, Shah M, Al-Khuzaei S, MacLaren RE, Shanks M, Clouston P, Halford S
Genes (Basel) 2020 Dec 12;11(12) doi: 10.3390/genes11121497. PMID: 33322828Free PMC Article
Kiang AS, Kenna PF, Humphries MM, Ozaki E, Koenekoop RK, Campbell M, Farrar GJ, Humphries P
Genes (Basel) 2020 Nov 27;11(12) doi: 10.3390/genes11121420. PMID: 33261050Free PMC Article

Prognosis

Hotta Y, Torii K, Takayama M
Jpn J Ophthalmol 2024 Sep;68(5):401-418. Epub 2024 Sep 14 doi: 10.1007/s10384-024-01109-8. PMID: 39271608Free PMC Article
Feenstra HM, Al-Khuzaei S, Shah M, Broadgate S, Shanks M, Kamath A, Yu J, Jolly JK, MacLaren RE, Clouston P, Halford S, Downes SM
Genes (Basel) 2022 Aug 10;13(8) doi: 10.3390/genes13081423. PMID: 36011334Free PMC Article
Kuehlewein L, Straßer T, Blumenstock G, Stingl K, Fischer MD, Wilhelm B, Zrenner E, Wissinger B, Kohl S, Weisschuh N, Zobor D; RD-CURE Consortium
Invest Ophthalmol Vis Sci 2022 May 2;63(5):9. doi: 10.1167/iovs.63.5.9. PMID: 35533076Free PMC Article
Lin Y, Xu CL, Breazzano MP, Tanaka AJ, Ryu J, Levi SR, Yao K, Sparrow JR, Tsang SH
Ophthalmic Genet 2020 Feb;41(1):26-30. Epub 2020 Feb 13 doi: 10.1080/13816810.2020.1723116. PMID: 32052671Free PMC Article
Takahashi VKL, Takiuti JT, Jauregui R, Lima LH, Tsang SH
Ophthalmic Genet 2018 Oct;39(5):610-614. Epub 2018 Aug 28 doi: 10.1080/13816810.2018.1509354. PMID: 30153077

Clinical prediction guides

Hotta Y, Torii K, Takayama M
Jpn J Ophthalmol 2024 Sep;68(5):401-418. Epub 2024 Sep 14 doi: 10.1007/s10384-024-01109-8. PMID: 39271608Free PMC Article
Olivier G, Corton M, Intartaglia D, Verbakel SK, Sergouniotis PI, Le Meur G, Dhaenens CM, Naacke H, Avila-Fernández A, Hoyng CB, Klevering J, Bocquet B, Roubertie A, Sénéchal A, Banfi S, Muller A, Hamel CL, Black GC, Conte I, Roosing S, Zanlonghi X, Ayuso C, Meunier I, Manes G
J Med Genet 2021 Aug;58(8):570-578. Epub 2020 Aug 17 doi: 10.1136/jmedgenet-2020-107150. PMID: 32817297
Kiang AS, Kenna PF, Humphries MM, Ozaki E, Koenekoop RK, Campbell M, Farrar GJ, Humphries P
Genes (Basel) 2020 Nov 27;11(12) doi: 10.3390/genes11121420. PMID: 33261050Free PMC Article
Takahashi VKL, Takiuti JT, Jauregui R, Lima LH, Tsang SH
Ophthalmic Genet 2018 Oct;39(5):610-614. Epub 2018 Aug 28 doi: 10.1080/13816810.2018.1509354. PMID: 30153077
Cremers FP, van de Pol DJ, van Driel M, den Hollander AI, van Haren FJ, Knoers NV, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Deutman AF, Hoyng CB
Hum Mol Genet 1998 Mar;7(3):355-62. doi: 10.1093/hmg/7.3.355. PMID: 9466990

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