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GTR Home > Conditions/Phenotypes > Corneal dystrophy, Fuchs endothelial, 6

Corneal dystrophy, Fuchs endothelial, 6

Summary

Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). Patients with keratoconus have been observed (Lechner et al., 2013). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800). [from OMIM]

Available tests

12 tests are in the database for this condition.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AREB6, BZP, DELTAEF1, FECD6, NIL2A, PPCD3, TCF8, ZFHEP, ZFHX1A, ZEB1
    Summary: zinc finger E-box binding homeobox 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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