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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).
Autosomal recessive inheritance (Orphanet)
 
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.
See: Feature record | Search on this feature
Opacification of the corneal stroma
MedGen UID:
602191
•Concept ID:
C0423250
•
Finding
Reduced transparency of the stroma of cornea.
See: Feature record | Search on this feature
Increased corneal thickness
MedGen UID:
816781
•Concept ID:
C3810451
•
Finding
A increased anteroposterior thickness of the cornea.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Absence of phenotype-genotype correlation of patients expressing mutations in the SLC4A11 gene.
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
Congenital hereditary corneal oedema of Maumenee: its clinical features, management, and pathology.
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

Update on the genetics of corneal endothelial dystrophies.
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
Descemet Membrane Endothelial Keratoplasty in Children.
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
Outcomes of Descemet-Stripping Automated Endothelial Keratoplasty in Congenital Hereditary Endothelial Dystrophy.
Mohebbi M, Nabavi A, Fadakar K, Hashemi H
Eye Contact Lens 2020 Jan;46(1):57-62. doi: 10.1097/ICL.0000000000000604. PMID: 31008826
Outcomes of penetrating keratoplasty in congenital hereditary endothelial dystrophy.
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
SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy.
Patel SP, Parker MD
Biomed Res Int 2015;2015:475392. Epub 2015 Sep 16 doi: 10.1155/2015/475392. PMID: 26451371Free PMC Article

Diagnosis

A review of techniques and outcomes of endothelial keratoplasty in congenital hereditary endothelial dystrophy.
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
Update on the genetics of corneal endothelial dystrophies.
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
Harboyan Syndrome.
Javaid A, Orakzai AA
J Ayub Med Coll Abbottabad 2020 Oct-Dec;32(Suppl 1)(4):S701-S703. PMID: 33754535
Outcomes of Descemet-Stripping Automated Endothelial Keratoplasty in Congenital Hereditary Endothelial Dystrophy.
Mohebbi M, Nabavi A, Fadakar K, Hashemi H
Eye Contact Lens 2020 Jan;46(1):57-62. doi: 10.1097/ICL.0000000000000604. PMID: 31008826
IC3D classification of corneal dystrophies--edition 2.
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

Therapy

Novel Proposed Algorithm in Congenital Hereditary Endothelial Dystrophy.
Mehta N, Ramappa M
Semin Ophthalmol 2023 Feb;38(2):108-115. Epub 2022 Jun 28 doi: 10.1080/08820538.2022.2094713. PMID: 35763407
SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.
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
Clinical Manifestations and Characteristics of In Vivo Confocal Microscopy in Varicella Zoster Virus-Related Corneal Endotheliitis.
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
Anterior segment OCT-based diagnosis and management of retained Descemet's membrane following penetrating keratoplasty.
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
Report of a new family with dominant congenital heredity stromal dystrophy of the cornea.
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

SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.
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
Corneal Folds After Descemet Membrane Endothelial Keratoplasty in Congenital Hereditary Endotheial Dystrophy.
Fogla R, Srinivasan B
Cornea 2021 Jun 1;40(6):715-719. doi: 10.1097/ICO.0000000000002471. PMID: 33941715
Outcomes of penetrating keratoplasty in congenital hereditary endothelial dystrophy.
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
SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy.
Patel SP, Parker MD
Biomed Res Int 2015;2015:475392. Epub 2015 Sep 16 doi: 10.1155/2015/475392. PMID: 26451371Free PMC Article
Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome).
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

Descemet Membrane Endothelial Keratoplasty in Children.
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
Energy Shortage in Human and Mouse Models of SLC4A11-Associated Corneal Endothelial Dystrophies.
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
Descemet Stripping Endothelial Keratoplasty in Pediatric Patients with Congenital Hereditary Endothelial Dystrophy.
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
Outcomes of Descemet-Stripping Automated Endothelial Keratoplasty in Congenital Hereditary Endothelial Dystrophy.
Mohebbi M, Nabavi A, Fadakar K, Hashemi H
Eye Contact Lens 2020 Jan;46(1):57-62. doi: 10.1097/ICL.0000000000000604. PMID: 31008826
Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.
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

Pediatric endothelial keratoplasty: a systematic review and individual participant data meta-analysis.
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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