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Corneal Dystrophy, Dominant

MedGen UID:
893608
Concept ID:
CN239349
Disease or Syndrome

Professional guidelines

PubMed

Chang MS, Jun I, Kim EK
Korean J Ophthalmol 2023 Aug;37(4):340-347. Epub 2023 Jun 19 doi: 10.3341/kjo.2023.0032. PMID: 37336511Free PMC Article
Zhang Y, Ding J
Pediatr Nephrol 2018 Aug;33(8):1309-1316. Epub 2017 Sep 1 doi: 10.1007/s00467-017-3784-3. PMID: 28864840
Weiss JS, Khemichian AJ
Dev Ophthalmol 2011;48:67-96. Epub 2011 Apr 26 doi: 10.1159/000324078. PMID: 21540632

Recent clinical studies

Etiology

Kannabiran C, Chaurasia S, Ramappa M, Mootha VV
Indian J Ophthalmol 2022 Jul;70(7):2239-2248. doi: 10.4103/ijo.IJO_992_22. PMID: 35791103Free PMC Article
Lisch W, Weiss JS
Exp Eye Res 2020 Sep;198:108139. Epub 2020 Jul 26 doi: 10.1016/j.exer.2020.108139. PMID: 32726603
Nagano C, Nozu K, Yamamura T, Minamikawa S, Fujimura J, Sakakibara N, Nakanishi K, Horinouchi T, Iwafuchi Y, Kusuhara S, Matsumiya W, Yoshikawa N, Iijima K
CEN Case Rep 2019 Feb;8(1):14-17. Epub 2018 Aug 7 doi: 10.1007/s13730-018-0356-8. PMID: 30088155Free PMC Article
Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704Free PMC Article
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Diagnosis

Lisch W, Weiss JS
Exp Eye Res 2020 Sep;198:108139. Epub 2020 Jul 26 doi: 10.1016/j.exer.2020.108139. PMID: 32726603
Lisch W, Weiss JS
Exp Eye Res 2019 Sep;186:107715. Epub 2019 Jul 10 doi: 10.1016/j.exer.2019.107715. PMID: 31301286
Weiss JS, Møller HU, Aldave AJ, Seitz B, Bredrup C, Kivelä T, Munier FL, Rapuano CJ, Nischal KK, Kim EK, Sutphin J, Busin M, Labbé A, Kenyon KR, Kinoshita S, Lisch W
Cornea 2015 Feb;34(2):117-59. doi: 10.1097/ICO.0000000000000307. PMID: 25564336
Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704Free PMC Article
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Therapy

Chang MS, Jun I, Kim EK
Korean J Ophthalmol 2023 Aug;37(4):340-347. Epub 2023 Jun 19 doi: 10.3341/kjo.2023.0032. PMID: 37336511Free PMC Article
Solomon JP, Page LJ, Balch WE, Kelly JW
Crit Rev Biochem Mol Biol 2012 May-Jun;47(3):282-96. Epub 2012 Feb 24 doi: 10.3109/10409238.2012.661401. PMID: 22360545Free PMC Article
McLean WH, Moore CB
Hum Mol Genet 2011 Oct 15;20(R2):R189-97. Epub 2011 Sep 2 doi: 10.1093/hmg/ddr379. PMID: 21890491
Han KE, Kim TI, Chung WS, Choi SI, Kim BY, Kim EK
Eye Contact Lens 2010 Sep;36(5):296-9. doi: 10.1097/ICL.0b013e3181ef0da0. PMID: 20724852
Warburg M
Birth Defects Orig Artic Ser 1971 Mar;7(3):136-54. PMID: 4950916

Prognosis

Small KW, Wiggins R, Udar N, Silva-Garcia R, Avetisjan J, Vincent A, Shaya FS
Ophthalmol Retina 2022 Jun;6(6):512-519. Epub 2022 Feb 11 doi: 10.1016/j.oret.2022.02.003. PMID: 35151913
Weiss JS, Khemichian AJ
Dev Ophthalmol 2011;48:67-96. Epub 2011 Apr 26 doi: 10.1159/000324078. PMID: 21540632
Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704Free PMC Article
Edwards AO
Eye (Lond) 2008 Oct;22(10):1233-42. Epub 2008 Feb 29 doi: 10.1038/eye.2008.38. PMID: 18309337
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Clinical prediction guides

Xu TT, Li YJ, Afshari NA, Aleff RA, Rinkoski TA, Patel SV, Maguire LJ, Edwards AO, Brown WL, Fautsch MP, Wieben ED, Baratz KH
Invest Ophthalmol Vis Sci 2021 Jan 4;62(1):17. doi: 10.1167/iovs.62.1.17. PMID: 33444430Free PMC Article
Daniel S, Renwick M, Chau VQ, Datta S, Maddineni P, Zode G, Wade EM, Robertson SP, Petroll WM, Hulleman JD
J Mol Med (Berl) 2020 Nov;98(11):1639-1656. Epub 2020 Sep 22 doi: 10.1007/s00109-020-01974-z. PMID: 32964303Free PMC Article
Weiss JS, Khemichian AJ
Dev Ophthalmol 2011;48:67-96. Epub 2011 Apr 26 doi: 10.1159/000324078. PMID: 21540632
Smith F
Am J Clin Dermatol 2003;4(5):347-64. doi: 10.2165/00128071-200304050-00005. PMID: 12688839
Rosenblum P, Stark WJ, Maumenee IH, Hirst LW, Maumenee AE
Am J Ophthalmol 1980 Oct;90(4):455-62. doi: 10.1016/s0002-9394(14)75011-1. PMID: 6968504

Recent systematic reviews

Lau LC, Ma L, Young AL, Rong SS, Jhanji V, Brelen ME, Pang CP, Chen LJ
PLoS One 2014;9(10):e109142. Epub 2014 Oct 9 doi: 10.1371/journal.pone.0109142. PMID: 25299301Free PMC Article

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