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Congenital hereditary endothelial dystrophy

MedGen UID:
736683
Concept ID:
C1562689
Disease or Syndrome
Synonym: CHED-congenital hereditary endothelial dystrophy
SNOMED CT: Congenital hereditary endothelial dystrophy (417651000); CHED-congenital hereditary endothelial dystrophy (417651000)

Professional guidelines

PubMed

Mehta JS, Hemadevi B, Vithana EN, Arunkumar J, Srinivasan M, Prajna V, Tan DT, Aung T, Sundaresan P
Cornea 2010 Mar;29(3):302-6. doi: 10.1097/ICO.0b013e3181ae9038. PMID: 20118786

Recent clinical studies

Etiology

Lu Y, Zuo P, Chen H, Shan H, Wang W, Dai Z, Xu H, Chen Y, Liang L, Ding D, Jin Y, Yin Y
Nat Commun 2023 Oct 3;14(1):6157. doi: 10.1038/s41467-023-41924-0. PMID: 37788993Free PMC Article
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
Mohebbi M, Mehrpour M, Sanij AD, Mohammadi N, Mirghorbani M
Graefes Arch Clin Exp Ophthalmol 2022 Apr;260(4):1069-1082. Epub 2021 Oct 28 doi: 10.1007/s00417-021-05459-8. PMID: 34709453
Pereira NC, Pereira Gomes JÁ, Tonin C, Verardo FO, Felippe RS, Dos Santos Forseto A
Cornea 2021 Apr;40(4):453-457. doi: 10.1097/ICO.0000000000002540. PMID: 32947400
Patel SP, Parker MD
Biomed Res Int 2015;2015:475392. Epub 2015 Sep 16 doi: 10.1155/2015/475392. PMID: 26451371Free PMC Article

Diagnosis

Mandal S, Asif MI, Maharana PK, Sharma N, Titiyal JS
Indian J Ophthalmol 2022 Dec;70(12):4108-4117. doi: 10.4103/ijo.IJO_1313_22. PMID: 36453297Free PMC Article
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
Javaid A, Orakzai AA
J Ayub Med Coll Abbottabad 2020 Oct-Dec;32(Suppl 1)(4):S701-S703. PMID: 33754535
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
Desir J, Abramowicz M
Orphanet J Rare Dis 2008 Oct 15;3:28. doi: 10.1186/1750-1172-3-28. PMID: 18922146Free 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
Painter SL, Rana M, Barua A, Abbott J, Gupte G, Shah S, Parulekar M
Eye (Lond) 2022 Dec;36(12):2286-2293. Epub 2021 Nov 27 doi: 10.1038/s41433-021-01855-w. PMID: 34839362Free PMC Article
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
Peng RM, Guo YX, Xiao GG, Lu Q, Sun BJ, Hong J
Ocul Immunol Inflamm 2019;27(8):1270-1279. Epub 2018 Sep 25 doi: 10.1080/09273948.2018.1521435. PMID: 30252558
Vengayil S, Vanathi M, Panda A, Khokhar S
Cont Lens Anterior Eye 2008 Jun;31(3):161-3. Epub 2008 Mar 5 doi: 10.1016/j.clae.2008.01.002. PMID: 18321767

Prognosis

Yousaf K, Naz S, Mushtaq A, Wohler E, Sobreira N, Ho BM, Chen LJ, Chu WK, Bashir R
Genes (Basel) 2023 Jan 25;14(2) doi: 10.3390/genes14020310. PMID: 36833236Free PMC Article
AlArrayedh H, Collum L, Murphy CC
Br J Ophthalmol 2018 Jan;102(1):19-25. Epub 2017 May 6 doi: 10.1136/bjophthalmol-2016-309565. PMID: 28478395
Patel SP, Parker MD
Biomed Res Int 2015;2015:475392. Epub 2015 Sep 16 doi: 10.1155/2015/475392. PMID: 26451371Free PMC Article
Özdemir B, Kubaloğlu A, Koytak A, Coskun E, Çinar Y, Sari ES, Özertürk Y
Cornea 2012 Apr;31(4):359-65. doi: 10.1097/ICO.0b013e31823d03af. PMID: 22240922
Desir J, Abramowicz M
Orphanet J Rare Dis 2008 Oct 15;3:28. doi: 10.1186/1750-1172-3-28. PMID: 18922146Free PMC Article

Clinical prediction guides

Yousaf K, Naz S, Mushtaq A, Wohler E, Sobreira N, Ho BM, Chen LJ, Chu WK, Bashir R
Genes (Basel) 2023 Jan 25;14(2) doi: 10.3390/genes14020310. PMID: 36833236Free PMC Article
Pereira NC, Pereira Gomes JÁ, Tonin C, Verardo FO, Felippe RS, Dos Santos Forseto A
Cornea 2021 Apr;40(4):453-457. doi: 10.1097/ICO.0000000000002540. PMID: 32947400
Yang F, Hong J, Xiao G, Feng Y, Peng R, Wang M, Qu H
Am J Ophthalmol 2020 Jan;209:132-140. Epub 2019 Aug 26 doi: 10.1016/j.ajo.2019.08.010. PMID: 31465754
Mohebbi M, Nabavi A, Fadakar K, Hashemi H
Eye Contact Lens 2020 Jan;46(1):57-62. doi: 10.1097/ICL.0000000000000604. PMID: 31008826
Siddiqui S, Zenteno JC, Rice A, Chacón-Camacho O, Naylor SG, Rivera-de la Parra D, Spokes DM, James N, Toomes C, Inglehearn CF, Ali M
Cornea 2014 Mar;33(3):247-51. doi: 10.1097/ICO.0000000000000041. PMID: 24351571Free PMC Article

Recent systematic reviews

Mohebbi M, Mehrpour M, Sanij AD, Mohammadi N, Mirghorbani M
Graefes Arch Clin Exp Ophthalmol 2022 Apr;260(4):1069-1082. Epub 2021 Oct 28 doi: 10.1007/s00417-021-05459-8. PMID: 34709453

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