U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Fuchs endothelial dystrophy

MedGen UID:
4800
•Concept ID:
C0016781
•
Disease or Syndrome
Synonyms: Fuchs endothelial corneal dystrophy; Fuchs' endothelial dystrophy
SNOMED CT: Fuchs corneal dystrophy (193839007); Fuchs' corneal dystrophy (193839007); Fuchs' endothelial dystrophy (193839007); Fuch's endothelial corneal dystrophy (193839007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal dominant inheritance (Orphanet)
Non-Mendelian inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0005321
OMIM® Phenotypic series: PS136800
Orphanet: ORPHA98974

Definition

A disorder that is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity. [from ORDO]

Professional guidelines

PubMed

Who first described Descemetorhexis without endothelial keratoplasty (DWEK) for the management of Fuchs' corneal endothelial dystrophy?
Thuret G, Poinard S, Garcin T, Gain P
J Fr Ophtalmol 2022 Apr;45(4):452-454. Epub 2022 Feb 9 doi: 10.1016/j.jfo.2021.09.002. PMID: 35151526
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
Treatment of Fuchs Endothelial Dystrophy by Descemet Stripping Without Endothelial Keratoplasty.
Borkar DS, Veldman P, Colby KA
Cornea 2016 Oct;35(10):1267-73. doi: 10.1097/ICO.0000000000000915. PMID: 27310885

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
Demographic profile and clinical course of Fuchs endothelial corneal dystrophy in Mexican patients.
Barrera-Sanchez M, Hernandez-Camarena JC, Ruiz-Lozano RE, Valdez-Garcia JE, Rodriguez-Garcia A
Int Ophthalmol 2022 Apr;42(4):1299-1309. Epub 2021 Nov 7 doi: 10.1007/s10792-021-02117-0. PMID: 34743257
Imaging Fuchs Endothelial Corneal Dystrophy in Clinical Practice and Clinical Trials.
Patel SV
Cornea 2021 Dec 1;40(12):1505-1511. doi: 10.1097/ICO.0000000000002738. PMID: 34074894
Descemet-Stripping Automated Endothelial Keratoplasty.
Gorovoy MS
Cornea 2021 Mar 1;40(3):270-273. doi: 10.1097/ICO.0000000000002688. PMID: 33543873
Potential contraindications to scleral lens wear.
Fadel D, Kramer E
Cont Lens Anterior Eye 2019 Feb;42(1):92-103. Epub 2018 Nov 2 doi: 10.1016/j.clae.2018.10.024. PMID: 30392894

Diagnosis

Artificial intelligence and corneal diseases.
Kang L, Ballouz D, Woodward MA
Curr Opin Ophthalmol 2022 Sep 1;33(5):407-417. Epub 2022 Jul 12 doi: 10.1097/ICU.0000000000000885. PMID: 35819899Free PMC Article
Imaging Fuchs Endothelial Corneal Dystrophy in Clinical Practice and Clinical Trials.
Patel SV
Cornea 2021 Dec 1;40(12):1505-1511. doi: 10.1097/ICO.0000000000002738. PMID: 34074894
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: 32438095Free PMC Article
Fuchs Endothelial Corneal Dystrophy: Clinical, Genetic, Pathophysiologic, and Therapeutic Aspects.
Matthaei M, Hribek A, Clahsen T, Bachmann B, Cursiefen C, Jun AS
Annu Rev Vis Sci 2019 Sep 15;5:151-175. doi: 10.1146/annurev-vision-091718-014852. PMID: 31525145
Fuchs' dystrophy.
Wilson SE, Bourne WM
Cornea 1988;7(1):2-18. PMID: 3280235

Therapy

Descemet membrane endothelial keratoplasty in complex eyes.
Siddiqui A, Chamberlain WD
Curr Opin Ophthalmol 2022 Jul 1;33(4):324-331. doi: 10.1097/ICU.0000000000000865. PMID: 35779057Free PMC Article
Imaging Fuchs Endothelial Corneal Dystrophy in Clinical Practice and Clinical Trials.
Patel SV
Cornea 2021 Dec 1;40(12):1505-1511. doi: 10.1097/ICO.0000000000002738. PMID: 34074894
Descemet's stripping without endothelial keratoplasty.
Garcerant D, Hirnschall N, Toalster N, Zhu M, Wen L, Moloney G
Curr Opin Ophthalmol 2019 Jul;30(4):275-285. doi: 10.1097/ICU.0000000000000579. PMID: 31033737
Potential contraindications to scleral lens wear.
Fadel D, Kramer E
Cont Lens Anterior Eye 2019 Feb;42(1):92-103. Epub 2018 Nov 2 doi: 10.1016/j.clae.2018.10.024. PMID: 30392894
Descemet membrane endothelial keratoplasty.
Ang M, Wilkins MR, Mehta JS, Tan D
Br J Ophthalmol 2016 Jan;100(1):15-21. Epub 2015 May 19 doi: 10.1136/bjophthalmol-2015-306837. PMID: 25990654

Prognosis

Endothelial Keratoplasty Update 2020.
Price MO, Feng MT, Price FW Jr
Cornea 2021 May 1;40(5):541-547. doi: 10.1097/ICO.0000000000002565. PMID: 33252380
Descemet's stripping without endothelial keratoplasty.
Garcerant D, Hirnschall N, Toalster N, Zhu M, Wen L, Moloney G
Curr Opin Ophthalmol 2019 Jul;30(4):275-285. doi: 10.1097/ICU.0000000000000579. PMID: 31033737
Fuchs Endothelial Corneal Dystrophy: Update on Pathogenesis and Future Directions.
Sarnicola C, Farooq AV, Colby K
Eye Contact Lens 2019 Jan;45(1):1-10. doi: 10.1097/ICL.0000000000000469. PMID: 30005051
Medical and Semi-surgical Treatments for Fuchs Endothelial Corneal Dystrophy.
Wacker K, Baratz KH, Fautsch MP, Patel SV
Klin Monbl Augenheilkd 2018 Jun;235(6):709-713. Epub 2018 May 3 doi: 10.1055/a-0577-7953. PMID: 29723889
Fuchs endothelial corneal dystrophy.
Elhalis H, Azizi B, Jurkunas UV
Ocul Surf 2010 Oct;8(4):173-84. doi: 10.1016/s1542-0124(12)70232-x. PMID: 20964980Free PMC Article

Clinical prediction guides

Demographic profile and clinical course of Fuchs endothelial corneal dystrophy in Mexican patients.
Barrera-Sanchez M, Hernandez-Camarena JC, Ruiz-Lozano RE, Valdez-Garcia JE, Rodriguez-Garcia A
Int Ophthalmol 2022 Apr;42(4):1299-1309. Epub 2021 Nov 7 doi: 10.1007/s10792-021-02117-0. PMID: 34743257
Endothelial Keratoplasty Update 2020.
Price MO, Feng MT, Price FW Jr
Cornea 2021 May 1;40(5):541-547. doi: 10.1097/ICO.0000000000002565. PMID: 33252380
Descemet's stripping without endothelial keratoplasty.
Garcerant D, Hirnschall N, Toalster N, Zhu M, Wen L, Moloney G
Curr Opin Ophthalmol 2019 Jul;30(4):275-285. doi: 10.1097/ICU.0000000000000579. PMID: 31033737
Medical and Semi-surgical Treatments for Fuchs Endothelial Corneal Dystrophy.
Wacker K, Baratz KH, Fautsch MP, Patel SV
Klin Monbl Augenheilkd 2018 Jun;235(6):709-713. Epub 2018 May 3 doi: 10.1055/a-0577-7953. PMID: 29723889
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

Recent systematic reviews

Systematic Review of the Diagnostic Criteria and Severity Classification for Fuchs Endothelial Corneal Dystrophy.
Oie Y, Yamaguchi T, Nishida N, Okumura N, Maeno S, Kawasaki R, Jhanji V, Shimazaki J, Nishida K
Cornea 2023 Dec 1;42(12):1590-1600. Epub 2023 Aug 21 doi: 10.1097/ICO.0000000000003343. PMID: 37603692
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
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
Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis.
Li D, Peng X, Sun H
BMC Ophthalmol 2015 Jun 19;15:61. doi: 10.1186/s12886-015-0055-6. PMID: 26087656Free PMC Article
Endothelial keratoplasty versus penetrating keratoplasty for Fuchs endothelial dystrophy.
Nanavaty MA, Wang X, Shortt AJ
Cochrane Database Syst Rev 2014 Feb 14;2014(2):CD008420. doi: 10.1002/14651858.CD008420.pub3. PMID: 24526345Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...