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GTR Home > Conditions/Phenotypes > Corneal dystrophy, Fuchs endothelial, 4

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). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800). [from OMIM]

Available tests

20 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: BTR1, CDPD1, CHED, CHED2, NABC1, dJ794I6.2, SLC4A11
    Summary: solute carrier family 4 member 11

Clinical features

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