KEGG DISEASE: Fuchs corneal dystrophy

DISEASE: Fuchs corneal dystrophy

Entry

H00960                      Disease

Name

Fuchs corneal dystrophy;
Fuchs endothelial corneal dystrophy

Description

Fuchs endothelial corneal dystrophy (FECD) is characterized by progressive loss of corneal endothelial cells, thickening of Descemet membrane, and deposition of extracellular matrix in the form of guttae. As a result, the endothelial layer is eventually no longer able to support corneal deturgescence, leading to corneal edema and decreased in visual acuity. These findings usually become clinically evident in the fourth and fifth decades of life. Corneal transplantation is currently the only modality used to restore vision. FECD is a genetically complex disorder, but the familial risk is relatively high.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
  Disorders of the eyeball anterior segment
   Disorders of the cornea
    9A70  Hereditary corneal dystrophies
     H00960  Fuchs corneal dystrophy

Gene

(FECD1) COL8A2 [HSA:1296] [KO:K23455]
(FECD3) TCF4 [HSA:6925] [KO:K15603]
(FECD4) SLC4A11 [HSA:83959] [KO:K13862]
(FECD6) ZEB1 [HSA:6935] [KO:K09299]
(FECD8) AGBL1 [HSA:123624] [KO:K23436]

Other DBs

ICD-11:

9A70.0

ICD-10:

H18.5

MeSH:

D005642

OMIM:

136800 613267 613268 613270 615523

Reference

PMID:19236704

Authors

Klintworth GK

Title

Corneal dystrophies.

Journal

Orphanet J Rare Dis 4:7 (2009)
DOI:10.1186/1750-1172-4-7

Reference

PMID:20964980

Authors

Elhalis H, Azizi B, Jurkunas UV

Title

Fuchs endothelial corneal dystrophy.

Journal

Ocul Surf 8:173-84 (2010)
DOI:10.1016/S1542-0124(12)70232-X

Reference

PMID:18024822 (COL8A2)

Authors

Liskova P, Prescott Q, Bhattacharya SS, Tuft SJ

Title

British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.

Journal

Br J Ophthalmol 91:1717-8 (2007)
DOI:10.1136/bjo.2007.115154

Reference

PMID:26401622 (TCF4)

Authors

Soliman AZ, Xing C, Radwan SH, Gong X, Mootha VV

Title

Correlation of Severity of Fuchs Endothelial Corneal Dystrophy With Triplet Repeat Expansion in TCF4.

Journal

JAMA Ophthalmol 133:1386-91 (2015)
DOI:10.1001/jamaophthalmol.2015.3430

Reference

PMID:18024964 (SLC4A11)

Authors

Vithana EN, Morgan PE, Ramprasad V, Tan DT, Yong VH, Venkataraman D, Venkatraman A, Yam GH, Nagasamy S, Law RW, Rajagopal R, Pang CP, Kumaramanickevel G, Casey JR, Aung T

Title

SLC4A11 mutations in Fuchs endothelial corneal dystrophy.

Journal

Hum Mol Genet 17:656-66 (2008)
DOI:10.1093/hmg/ddm337

Reference

PMID:20036349 (ZEB1)

Authors

Riazuddin SA, Zaghloul NA, Al-Saif A, Davey L, Diplas BH, Meadows DN, Eghrari AO, Minear MA, Li YJ, Klintworth GK, Afshari N, Gregory SG, Gottsch JD, Katsanis N

Title

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

Journal

Am J Hum Genet 86:45-53 (2010)
DOI:10.1016/j.ajhg.2009.12.001

Reference

PMID:24094747 (AGBL1 TCF4)

Authors

Riazuddin SA, Vasanth S, Katsanis N, Gottsch JD

Title

Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4.

Journal

Am J Hum Genet 93:758-64 (2013)
DOI:10.1016/j.ajhg.2013.08.010

» Japanese version

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Disease (5)   
   OMIM (5)   
Drug (1)   
   KEGG DRUG (1)   
Gene (10)   
   KEGG ORTHOLOGY (5)   
   KEGG GENES (5)   
Literature (7)   
   PubMed (7)   
All databases (23)   

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