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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
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
Lamellar corneal transplantation.
Arenas E, Esquenazi S, Anwar M, Terry M
Surv Ophthalmol 2012 Nov;57(6):510-29. doi: 10.1016/j.survophthal.2012.01.009. PMID: 23068974

Diagnosis

Fuchs endothelial corneal dystrophy: current perspectives on diagnostic pathology and genetics-Bowman Club Lecture.
Thaung C, Davidson AE
BMJ Open Ophthalmol 2022 Jul;7(1) doi: 10.1136/bmjophth-2022-001103. PMID: 36161831Free PMC Article
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
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

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
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;2(2):CD008420. doi: 10.1002/14651858.CD008420.pub3. PMID: 24526345Free PMC Article

Prognosis

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
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

Descemetorhexis Without Endothelial Keratoplasty in Fuchs Endothelial Corneal Dystrophy: A Systematic Review and Meta-Analysis.
Franceschino A, Dutheil F, Pereira B, Watson SL, Chiambaretta F, Navel V
Cornea 2022 Jul 1;41(7):815-825. Epub 2021 Dec 7 doi: 10.1097/ICO.0000000000002855. PMID: 34879044
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;2(2):CD008420. doi: 10.1002/14651858.CD008420.pub3. PMID: 24526345Free PMC Article

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