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Retinal ciliopathy

MedGen UID:
1843204
Concept ID:
C5680651
Disease or Syndrome
Synonym: retinal ciliopathy
 
Monarch Initiative: MONDO:0022410
Orphanet: ORPHA156165

Professional guidelines

PubMed

Molinari E, Sayer JA
Prog Mol Biol Transl Sci 2021;182:353-401. Epub 2021 Mar 6 doi: 10.1016/bs.pmbts.2021.01.027. PMID: 34175048

Recent clinical studies

Etiology

Ziccardi L, Niceta M, Stellacci E, Ciolfi A, Tatti M, Bruselles A, Mancini C, Barbano L, Cecchetti S, Costanzo E, Cappa M, Parravano M, Varano M, Tartaglia M, Cordeddu V
Int J Mol Sci 2022 Nov 24;23(23) doi: 10.3390/ijms232314656. PMID: 36498982Free PMC Article
Chiu N, Lee W, Liu PK, Levi SR, Wang HH, Chen N, Kang EY, Seo GH, Lee H, Liu L, Wu WC, Tsai SH, Wang NK
Ophthalmic Genet 2022 Jun;43(3):378-384. Epub 2021 Dec 16 doi: 10.1080/13816810.2021.2010773. PMID: 34915818Free PMC Article
Khan AO, Eisenberger T, Nagel-Wolfrum K, Wolfrum U, Bolz HJ
Br J Ophthalmol 2015 Dec;99(12):1725-31. Epub 2015 Aug 20 doi: 10.1136/bjophthalmol-2015-307277. PMID: 26294103

Diagnosis

Ziccardi L, Niceta M, Stellacci E, Ciolfi A, Tatti M, Bruselles A, Mancini C, Barbano L, Cecchetti S, Costanzo E, Cappa M, Parravano M, Varano M, Tartaglia M, Cordeddu V
Int J Mol Sci 2022 Nov 24;23(23) doi: 10.3390/ijms232314656. PMID: 36498982Free PMC Article
Bućan I, Bjeloš M, Marković I, Bućan D
Int J Mol Sci 2022 Jul 8;23(14) doi: 10.3390/ijms23147582. PMID: 35886928Free PMC Article
Chen X, Wang X, Jiang C, Xu M, Liu Y, Qi R, Qi X, Sun X, Xie P, Liu Q, Yan B, Sheng X, Zhao C
Invest Ophthalmol Vis Sci 2018 Sep 4;59(11):4581-4589. doi: 10.1167/iovs.17-23351. PMID: 30242358
Birtel J, Gliem M, Mangold E, Tebbe L, Spier I, Müller PL, Holz FG, Neuhaus C, Wolfrum U, Bolz HJ, Charbel Issa P
Invest Ophthalmol Vis Sci 2017 Aug 1;58(10):3950-3959. doi: 10.1167/iovs.17-21679. PMID: 28785766
Zaki MS, Heller R, Thoenes M, Nürnberg G, Stern-Schneider G, Nürnberg P, Karnati S, Swan D, Fateen E, Nagel-Wolfrum K, Mostafa MI, Thiele H, Wolfrum U, Baumgart-Vogt E, Bolz HJ
Hum Mutat 2016 Feb;37(2):170-4. Epub 2015 Dec 14 doi: 10.1002/humu.22934. PMID: 26593283

Clinical prediction guides

McDonald A, Wijnholds J
Int J Mol Sci 2024 Mar 1;25(5) doi: 10.3390/ijms25052887. PMID: 38474133Free PMC Article
Moreno-Leon L, West EL, O'Hara-Wright M, Li L, Nair R, He J, Anand M, Sahu B, Chavali VRM, Smith AJ, Ali RR, Jacobson SG, Cideciyan AV, Khanna H
Hum Mol Genet 2021 Jan 21;29(22):3706-3716. doi: 10.1093/hmg/ddaa269. PMID: 33355362Free PMC Article
Cogné B, Latypova X, Senaratne LDS, Martin L, Koboldt DC, Kellaris G, Fievet L, Le Meur G, Caldari D, Debray D, Nizon M, Frengen E, Bowne SJ; 99 Lives Consortium, Cadena EL, Daiger SP, Bujakowska KM, Pierce EA, Gorin M, Katsanis N, Bézieau S, Petersen-Jones SM, Occelli LM, Lyons LA, Legeai-Mallet L, Sullivan LS, Davis EE, Isidor B
Am J Hum Genet 2020 Jun 4;106(6):893-904. Epub 2020 May 7 doi: 10.1016/j.ajhg.2020.04.005. PMID: 32386558Free PMC Article
Zhang C, Zhang Q, Wang F, Liu Q
Biochem Biophys Res Commun 2015 Oct 2;465(4):651-7. Epub 2015 Jul 15 doi: 10.1016/j.bbrc.2015.06.083. PMID: 26188096Free PMC Article
Eblimit A, Nguyen TM, Chen Y, Esteve-Rudd J, Zhong H, Letteboer S, Van Reeuwijk J, Simons DL, Ding Q, Wu KM, Li Y, Van Beersum S, Moayedi Y, Xu H, Pickard P, Wang K, Gan L, Wu SM, Williams DS, Mardon G, Roepman R, Chen R
Hum Mol Genet 2015 Mar 15;24(6):1584-601. Epub 2014 Nov 14 doi: 10.1093/hmg/ddu573. PMID: 25398945Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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