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Corneal endothelial dystrophy

MedGen UID:: 1779156
•Concept ID:: C5441823
•: Disease or Syndrome

Synonym:	CORNEAL ENDOTHELIAL DYSTROPHY 2, AUTOSOMAL RECESSIVE
SNOMED CT:	Corneal endothelial dystrophy (416960004); Dystrophy of corneal endothelium (416960004); Endothelial corneal dystrophy (416960004)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	SLC4A11, GRHL2, OVOL2, ZEB1, COL8A2

Monarch Initiative:	MONDO:0000766

Definition

A corneal dystrophy (disease) that involves the corneal epithelium. [from MONDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Phenotypic abnormality
- Abnormality of the eye
  - Abnormal eye morphology
    - Abnormal anterior eye segment morphology
      - Abnormal cornea morphology
        Corneal dystrophy
        Corneal endothelial dystrophy
        Congenital hereditary endothelial dystrophy of cornea
        Fuchs endothelial dystrophy
        Polymorphous corneal dystrophy
        Corneal dystrophy, posterior polymorphous, 4
        Posterior polymorphous corneal dystrophy 1
        Posterior polymorphous corneal dystrophy 2
        Posterior polymorphous corneal dystrophy 3
        X-linked endothelial corneal dystrophy

Professional guidelines

PubMed

Rho kinase (ROCK) inhibitors in the management of corneal endothelial disease.

Syed ZA, Rapuano CJ
Curr Opin Ophthalmol 2021 May 1;32(3):268-274. doi: 10.1097/ICU.0000000000000748. PMID: 33606407

Corneal endothelial dysfunction: Evolving understanding and treatment options.

Price MO, Mehta JS, Jurkunas UV, Price FW Jr
Prog Retin Eye Res 2021 May;82:100904. Epub 2020 Sep 22 doi: 10.1016/j.preteyeres.2020.100904. PMID: 32977001

Sulforaphane decreases endothelial cell apoptosis in fuchs endothelial corneal dystrophy: a novel treatment.

Ziaei A, Schmedt T, Chen Y, Jurkunas UV
Invest Ophthalmol Vis Sci 2013 Oct 15;54(10):6724-34. doi: 10.1167/iovs.13-12699. PMID: 24030461 Free PMC Article

See all (11)

Recent clinical studies

Etiology

Surgical Management of Fuchs Endothelial Corneal Dystrophy: A Treatment Algorithm and Individual Patient Meta-Analysis of Descemet Stripping Only.

Din N, Cohen E, Popovic M, Mimouni M, Trinh T, Gouvea L, Alshaker S, Ong Tone S, Chan CC, Slomovic AR
Cornea 2022 Sep 1;41(9):1188-1195. Epub 2022 Jan 25 doi: 10.1097/ICO.0000000000002975. PMID: 35942547

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: 35791103 Free PMC Article

Cataract Surgery in High Hyperopia.

Waldmann NP, Gerber N, Hill W, Goldblum D
Klin Monbl Augenheilkd 2018 Apr;235(4):413-415. Epub 2018 Apr 18 doi: 10.1055/s-0044-101010. PMID: 29669369

Surgical strategies to improve visual outcomes in corneal transplantation.

Rajan MS
Eye (Lond) 2014 Feb;28(2):196-201. Epub 2014 Jan 3 doi: 10.1038/eye.2013.279. PMID: 24384964 Free PMC Article

Molecular bases of corneal endothelial dystrophies.

Schmedt T, Silva MM, Ziaei A, Jurkunas U
Exp Eye Res 2012 Feb;95(1):24-34. Epub 2011 Aug 10 doi: 10.1016/j.exer.2011.08.002. PMID: 21855542 Free PMC Article

See all (42)

Diagnosis

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: 35791103 Free PMC Article

Fuchs endothelial corneal dystrophy: The vicious cycle of Fuchs pathogenesis.

Ong Tone S, Kocaba V, Böhm M, Wylegala A, White TL, Jurkunas UV
Prog Retin Eye Res 2021 Jan;80:100863. Epub 2020 May 8 doi: 10.1016/j.preteyeres.2020.100863. PMID: 32438095 Free PMC Article

Comorbidity of Keratoconus and Fuchs' Corneal Endothelial Dystrophy: A Review of the Literature.

Mylona I, Tsinopoulos I, Ziakas N
Ophthalmic Res 2020;63(4):369-374. Epub 2019 Dec 23 doi: 10.1159/000505579. PMID: 31865313

Imaging the Corneal Endothelium in Fuchs Corneal Endothelial Dystrophy.

Ong Tone S, Jurkunas U
Semin Ophthalmol 2019;34(4):340-346. Epub 2019 Jun 19 doi: 10.1080/08820538.2019.1632355. PMID: 31215821 Free PMC Article

Genetics of the corneal endothelial dystrophies: an evidence-based review.

Aldave AJ, Han J, Frausto RF
Clin Genet 2013 Aug;84(2):109-19. Epub 2013 Jun 10 doi: 10.1111/cge.12191. PMID: 23662738 Free PMC Article

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Therapy

Revisiting Existing Evidence of Corneal Endothelial Progenitors and Their Potential Therapeutic Applications in Corneal Endothelial Dysfunction.

Meir YJ, Chen HC, Chen CC, Ma HD
Adv Ther 2020 Mar;37(3):1034-1048. Epub 2020 Jan 30 doi: 10.1007/s12325-020-01237-w. PMID: 32002810

Descemet Endothelial Thickness Comparison Trial: A Randomized Trial Comparing Ultrathin Descemet Stripping Automated Endothelial Keratoplasty with Descemet Membrane Endothelial Keratoplasty.

Chamberlain W, Lin CC, Austin A, Schubach N, Clover J, McLeod SD, Porco TC, Lietman TM, Rose-Nussbaumer J
Ophthalmology 2019 Jan;126(1):19-26. Epub 2018 Jun 23 doi: 10.1016/j.ophtha.2018.05.019. PMID: 29945801

Descemet Membrane Endothelial Keratoplasty: Outcomes in the First Year of Experience.

Altınörs DD, Asena L
Exp Clin Transplant 2018 Mar;16 Suppl 1(Suppl 1):101-103. doi: 10.6002/ect.TOND-TDTD2017.O38. PMID: 29528002

New therapeutic modality for corneal endothelial disease using Rho-associated kinase inhibitor eye drops.

Koizumi N, Okumura N, Ueno M, Kinoshita S
Cornea 2014 Nov;33 Suppl 11:S25-31. doi: 10.1097/ICO.0000000000000240. PMID: 25289721

Corneal transplant rejection rate and severity after endothelial keratoplasty.

Allan BD, Terry MA, Price FW Jr, Price MO, Griffin NB, Claesson M
Cornea 2007 Oct;26(9):1039-42. doi: 10.1097/ICO.0b013e31812f66e5. PMID: 17893530

See all (11)

Prognosis

Surgical Management of Fuchs Endothelial Corneal Dystrophy: A Treatment Algorithm and Individual Patient Meta-Analysis of Descemet Stripping Only.

Postoperative Complications in Medicare Beneficiaries Following Endothelial Keratoplasty Surgery.

Zafar S, Wang P, Woreta FA, Aziz K, Makary M, Ghous Z, Srikumaran D
Am J Ophthalmol 2020 Nov;219:1-11. Epub 2020 Jun 20 doi: 10.1016/j.ajo.2020.05.033. PMID: 32574781

Comorbidity of Keratoconus and Fuchs' Corneal Endothelial Dystrophy: A Review of the Literature.

Mylona I, Tsinopoulos I, Ziakas N
Ophthalmic Res 2020;63(4):369-374. Epub 2019 Dec 23 doi: 10.1159/000505579. PMID: 31865313

Predictive Factors for Clinical Outcomes after Primary Descemet's Membrane Endothelial Keratoplasty for Fuchs' Endothelial Dystrophy.

Brockmann T, Pilger D, Brockmann C, Maier AB, Bertelmann E, Torun N
Curr Eye Res 2019 Feb;44(2):147-153. Epub 2018 Oct 29 doi: 10.1080/02713683.2018.1538459. PMID: 30339062

Clinical features of the congenital vitreoretinopathies.

Edwards AO
Eye (Lond) 2008 Oct;22(10):1233-42. Epub 2008 Feb 29 doi: 10.1038/eye.2008.38. PMID: 18309337

See all (20)

Clinical prediction guides

Surgical Management of Fuchs Endothelial Corneal Dystrophy: A Treatment Algorithm and Individual Patient Meta-Analysis of Descemet Stripping Only.

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: 32721020 Free PMC Article

Predictive Factors for Clinical Outcomes after Primary Descemet's Membrane Endothelial Keratoplasty for Fuchs' Endothelial Dystrophy.

Brockmann T, Pilger D, Brockmann C, Maier AB, Bertelmann E, Torun N
Curr Eye Res 2019 Feb;44(2):147-153. Epub 2018 Oct 29 doi: 10.1080/02713683.2018.1538459. PMID: 30339062

The pathophysiology of Fuchs' endothelial dystrophy--a review of molecular and cellular insights.

Zhang J, Patel DV
Exp Eye Res 2015 Jan;130:97-105. Epub 2014 Nov 1 doi: 10.1016/j.exer.2014.10.023. PMID: 25446318

New therapeutic modality for corneal endothelial disease using Rho-associated kinase inhibitor eye drops.

Koizumi N, Okumura N, Ueno M, Kinoshita S
Cornea 2014 Nov;33 Suppl 11:S25-31. doi: 10.1097/ICO.0000000000000240. PMID: 25289721

See all (20)