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Corneal Dystrophy, Recessive

MedGen UID:
893478
Concept ID:
CN239343
Disease or Syndrome

Professional guidelines

PubMed

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
Kirkness CM, McCartney A, Rice NS, Garner A, Steele AD
Br J Ophthalmol 1987 Feb;71(2):130-44. doi: 10.1136/bjo.71.2.130. PMID: 3548808Free PMC Article

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
Patel SP, Parker MD
Biomed Res Int 2015;2015:475392. Epub 2015 Sep 16 doi: 10.1155/2015/475392. PMID: 26451371Free 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

Singh S, Das S, Kannabiran C, Jakati S, Chaurasia S
Curr Eye Res 2021 Jun;46(6):765-770. Epub 2020 Nov 29 doi: 10.1080/02713683.2020.1849727. PMID: 33171054
Lisch W, Weiss JS
Exp Eye Res 2020 Sep;198:108139. Epub 2020 Jul 26 doi: 10.1016/j.exer.2020.108139. PMID: 32726603
Aggarwal S, Peck T, Golen J, Karcioglu ZA
Surv Ophthalmol 2018 Sep-Oct;63(5):609-617. Epub 2018 Mar 28 doi: 10.1016/j.survophthal.2018.03.004. PMID: 29604391
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

Therapy

Mehta N, Ramappa M
Semin Ophthalmol 2023 Feb;38(2):108-115. Epub 2022 Jun 28 doi: 10.1080/08820538.2022.2094713. PMID: 35763407
Firasat S, Dur-E-Shawar, Khan WA, Sughra U, Nousheen, Kaul H, Naz S, Noreen B, Gul R, Afshan K
Mol Biol Rep 2021 Nov;48(11):7467-7476. Epub 2021 Oct 12 doi: 10.1007/s11033-021-06765-4. PMID: 34637099
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
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
Warburg M
Birth Defects Orig Artic Ser 1971 Mar;7(3):136-54. PMID: 4950916

Prognosis

Singh S, Das S, Kannabiran C, Jakati S, Chaurasia S
Curr Eye Res 2021 Jun;46(6):765-770. Epub 2020 Nov 29 doi: 10.1080/02713683.2020.1849727. PMID: 33171054
Aggarwal S, Peck T, Golen J, Karcioglu ZA
Surv Ophthalmol 2018 Sep-Oct;63(5):609-617. Epub 2018 Mar 28 doi: 10.1016/j.survophthal.2018.03.004. PMID: 29604391
Patel SP, Parker MD
Biomed Res Int 2015;2015:475392. Epub 2015 Sep 16 doi: 10.1155/2015/475392. PMID: 26451371Free 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

Clinical prediction guides

Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D
Clin J Am Soc Nephrol 2015 Apr 7;10(4):703-9. Epub 2015 Feb 3 doi: 10.2215/CJN.10581014. PMID: 25649157Free PMC Article
Tsujikawa M
Cornea 2012 Nov;31 Suppl 1:S37-40. doi: 10.1097/ICO.0b013e31826a066a. PMID: 23038033
Riazuddin SA, Parker DS, McGlumphy EJ, Oh EC, Iliff BW, Schmedt T, Jurkunas U, Schleif R, Katsanis N, Gottsch JD
Am J Hum Genet 2012 Mar 9;90(3):533-9. Epub 2012 Feb 16 doi: 10.1016/j.ajhg.2012.01.013. PMID: 22341973Free PMC Article
Weiss JS, Khemichian AJ
Dev Ophthalmol 2011;48:67-96. Epub 2011 Apr 26 doi: 10.1159/000324078. PMID: 21540632
Vesaluoma MH, Sankila EM, Gallar J, Müller LJ, Petroll WM, Moilanen JA, Forsius H, Tervo TM
Invest Ophthalmol Vis Sci 2000 Jul;41(8):2120-6. PMID: 10892853

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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    Clinical resources

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