Fuchs corneal dystrophy

Definition:

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.

References:

[1]. Ahmed Z Soliman, et al. Correlation of Severity of Fuchs Endothelial Corneal Dystrophy With Triplet Repeat Expansion in TCF4. JAMA Ophthalmol. 2015 Dec;133(12):1386-91. [Content Brief]

[2]. Eranga N Vithana, et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet. 2008 Mar 1;17(5):656-66. [Content Brief]

[3]. Gordon K Klintworth, et al. Corneal dystrophies. Orphanet J Rare Dis. 2009 Feb 23;4:7. [Content Brief]

[4]. Hussain Elhalis, et al. Fuchs endothelial corneal dystrophy. Ocul Surf. 2010 Oct;8(4):173-84. [Content Brief]

[5]. P Liskova, et al. British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene. Br J Ophthalmol. 2007 Dec;91(12):1717-8. [Content Brief]

[6]. S Amer Riazuddin, et al. Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. Am J Hum Genet. 2010 Jan;86(1):45-53. [Content Brief]

[7]. S Amer Riazuddin, et al. Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. Am J Hum Genet. 2013 Oct 3;93(4):758-64. [Content Brief]

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