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Abnormal corneal endothelium morphology

MedGen UID:: 868921
•Concept ID:: C4023332
•: Anatomical Abnormality

Synonym:	Abnormality of corneal endothelium

HPO:	HP:0011488

Definition

Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal corneal endothelium morphology

Phenotypic abnormality
- Abnormality of the eye
  - Abnormal eye morphology
    - Abnormal anterior eye segment morphology
      - Abnormal cornea morphology
        Abnormal corneal endothelium morphology
        Abnormal Descemet membrane morphology
        Corneal guttata
        Descemet Membrane Folds
        Thickened Descemet membrane
        Thinning of Descemet membrane
        Abnormal migration of corneal endothelium
        Corneal keratic precipitates
        Reduced number of corneal endothelial cells
        Polymorphous corneal dystrophy
        Corneal dystrophy, posterior polymorphous, 4
        Posterior polymorphous corneal dystrophy 1
        Posterior polymorphous corneal dystrophy 2
        Posterior polymorphous corneal dystrophy 3

Conditions with this feature

Posterior polymorphous corneal dystrophy 1

MedGen UID:: 343836
•Concept ID:: C1852555
•: Disease or Syndrome

A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.

See: Condition Record

Posterior polymorphous corneal dystrophy 1

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

See all (1)

Recent clinical studies

Etiology

Morphology and thickness of corneal endothelial cells in young Sudanese individuals with myopia.

Mutwaly RF, Alrasheed SH, Elmadina AEM, Aldakhil S
J Med Life 2023 Dec;16(12):1808-1812. doi: 10.25122/jml-2023-0251. PMID: 38585539 Free PMC Article

Pathophysiology of Corneal Dystrophies: From Cellular Genetic Alteration to Clinical Findings.

Sacchetti M, Macchi I, Tiezzi A, La Cava M, Massaro-Giordano G, Lambiase A
J Cell Physiol 2016 Feb;231(2):261-9. doi: 10.1002/jcp.25082. PMID: 26104822

Corneal dystrophies.

Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704 Free PMC Article

Exfoliation syndrome.

Ritch R, Schlötzer-Schrehardt U
Surv Ophthalmol 2001 Jan-Feb;45(4):265-315. doi: 10.1016/s0039-6257(00)00196-x. PMID: 11166342

Corneal endothelium and growth factors.

Hoppenreijs VP, Pels E, Vrensen GF, Treffers WF
Surv Ophthalmol 1996 Sep-Oct;41(2):155-64. doi: 10.1016/s0039-6257(96)80005-1. PMID: 8890441

See all (161)

Diagnosis

Pathophysiology of Corneal Dystrophies: From Cellular Genetic Alteration to Clinical Findings.

Sacchetti M, Macchi I, Tiezzi A, La Cava M, Massaro-Giordano G, Lambiase A
J Cell Physiol 2016 Feb;231(2):261-9. doi: 10.1002/jcp.25082. PMID: 26104822

Corneal endothelial assessment with special references to keratoconus.

McMonnies CW
Optom Vis Sci 2014 Jun;91(6):e124-34. doi: 10.1097/OPX.0000000000000271. PMID: 24830369

Corneal dystrophies.

Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704 Free PMC Article

Exfoliation syndrome.

Ritch R, Schlötzer-Schrehardt U
Surv Ophthalmol 2001 Jan-Feb;45(4):265-315. doi: 10.1016/s0039-6257(00)00196-x. PMID: 11166342

Clinical specular microscopy.

Sugar A
Surv Ophthalmol 1979 Jul-Aug;24(1):21-32. doi: 10.1016/0039-6257(79)90144-9. PMID: 384572

See all (144)

Therapy

Reversible Corneal Endothelial Abnormalities With Netarsudil.

Tanna AP, Esfandiari H, Teramoto K
J Glaucoma 2020 Jun;29(6):e41-e43. doi: 10.1097/IJG.0000000000001507. PMID: 32224803

Confocal scanning laser microscopy in patients with postoperative endophthalmitis.

Fiore T, Torroni G, Iaccheri B, Cerquaglia A, Lupidi M, Giansanti F, Cagini C
Int Ophthalmol 2019 May;39(5):1071-1079. Epub 2018 Apr 13 doi: 10.1007/s10792-018-0916-0. PMID: 29654575

Cytotoxicity of atropine to human corneal endothelial cells by inducing mitochondrion-dependent apoptosis.

Wen Q, Fan TJ, Tian CL
Exp Biol Med (Maywood) 2016 Jul;241(13):1457-65. Epub 2016 Mar 27 doi: 10.1177/1535370216640931. PMID: 27022135 Free PMC Article

Calotropis procera (ushaar) keratitis.

Al-Mezaine HS, Al-Rajhi AA, Al-Assiri A, Wagoner MD
Am J Ophthalmol 2005 Jan;139(1):199-202. doi: 10.1016/j.ajo.2004.07.062. PMID: 15652855

Clinical specular microscopy.

Sugar A
Surv Ophthalmol 1979 Jul-Aug;24(1):21-32. doi: 10.1016/0039-6257(79)90144-9. PMID: 384572

See all (69)

Prognosis

Corneal endothelial morphology and central corneal thickness in type 2 diabetes mellitus patients.

Chowdhury B, Bhadra S, Mittal P, Shyam K
Indian J Ophthalmol 2021 Jul;69(7):1718-1724. doi: 10.4103/ijo.IJO_3120_20. PMID: 34146014 Free PMC Article

Histopathological examination of congenital corneal staphyloma and prognosis after penetrating keratoplasty.

Wan Y, Xiao G, Yu T, Zhang P, Hong J
Medicine (Baltimore) 2020 Oct 2;99(40):e21892. doi: 10.1097/MD.0000000000021892. PMID: 33019387 Free PMC Article

Pathophysiology of Corneal Dystrophies: From Cellular Genetic Alteration to Clinical Findings.

Sacchetti M, Macchi I, Tiezzi A, La Cava M, Massaro-Giordano G, Lambiase A
J Cell Physiol 2016 Feb;231(2):261-9. doi: 10.1002/jcp.25082. PMID: 26104822

Corneal dystrophies.

Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704 Free PMC Article

Exfoliation syndrome.

Ritch R, Schlötzer-Schrehardt U
Surv Ophthalmol 2001 Jan-Feb;45(4):265-315. doi: 10.1016/s0039-6257(00)00196-x. PMID: 11166342

See all (79)

Clinical prediction guides

Morphology and thickness of corneal endothelial cells in young Sudanese individuals with myopia.

Mutwaly RF, Alrasheed SH, Elmadina AEM, Aldakhil S
J Med Life 2023 Dec;16(12):1808-1812. doi: 10.25122/jml-2023-0251. PMID: 38585539 Free PMC Article

Corneal endothelial morphology and central corneal thickness in type 2 diabetes mellitus patients.

Chowdhury B, Bhadra S, Mittal P, Shyam K
Indian J Ophthalmol 2021 Jul;69(7):1718-1724. doi: 10.4103/ijo.IJO_3120_20. PMID: 34146014 Free PMC Article

Macular Corneal Dystrophy and Posterior Corneal Abnormalities.

Rubinstein Y, Weiner C, Einan-Lifshitz A, Chetrit N, Shoshany N, Zadok D, Avni I, Pras E
Cornea 2016 Dec;35(12):1605-1610. doi: 10.1097/ICO.0000000000001054. PMID: 27755187

Corneal endothelial assessment with special references to keratoconus.

McMonnies CW
Optom Vis Sci 2014 Jun;91(6):e124-34. doi: 10.1097/OPX.0000000000000271. PMID: 24830369

Axenfeld-Rieger syndrome. A spectrum of developmental disorders.

Shields MB, Buckley E, Klintworth GK, Thresher R
Surv Ophthalmol 1985 May-Jun;29(6):387-409. doi: 10.1016/0039-6257(85)90205-x. PMID: 3892740

See all (119)