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Congenital hereditary endothelial dystrophy of cornea(CHED; CHED2, FORMERLY)

MedGen UID:
387857
Concept ID:
C1857569
Congenital Abnormality; Disease or Syndrome
Synonyms: Congenital hereditary endothelial dystrophy of the cornea; Corneal dystrophy, congenital hereditary endothelial; Corneal endothelial dystrophy, autosomal recessive; Maumenee corneal dystrophy
SNOMED CT: Congenital hereditary endothelial dystrophy, autosomal recessive form (417395001); CHED II - Congenital hereditary endothelial dystrophy II (417395001); Congenital hereditary endothelial dystrophy type 2 (417395001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): SLC4A11 (20p13)
 
Monarch Initiative: MONDO:0009019
OMIM®: 217700
Orphanet: ORPHA293603

Definition

Corneal endothelial dystrophy is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane (summary by Vithana et al., 2006). [from OMIM]

Clinical features

From HPO
Corneal dystrophy
MedGen UID:
3619
Concept ID:
C0010036
Disease or Syndrome
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.
Increased corneal thickness
MedGen UID:
816781
Concept ID:
C3810451
Finding
A increased anteroposterior thickness of the cornea.
Abnormal Descemet membrane morphology
MedGen UID:
868919
Concept ID:
C4023330
Anatomical Abnormality
Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.

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
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

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
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
Van Ginderdeuren R, De Vos R, Casteels I, Foets B
Cornea 2002 Jan;21(1):118-20. doi: 10.1097/00003226-200201000-00025. PMID: 11805522

Prognosis

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
Fogla R, Srinivasan B
Cornea 2021 Jun 1;40(6):715-719. doi: 10.1097/ICO.0000000000002471. PMID: 33941715
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
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

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
Zhang W, Frausto R, Chung DD, Griffis CG, Kao L, Chen A, Azimov R, Sampath AP, Kurtz I, Aldave AJ
Invest Ophthalmol Vis Sci 2020 Jul 1;61(8):39. doi: 10.1167/iovs.61.8.39. PMID: 32721020Free PMC Article
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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