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References OMIM Gene GeneReviews HGMD HGNC
last update : 30-05-2018
Symbol FECD4
Location 20p13
Name corneal dystrophy, Fuchs endothelial 4
Corresponding gene SLC4A11
Main clinical features
  • degenerative disorder of population older than 40 years with progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium and post 2 decades impairing endothelial cell function seriously, leading to stromal edema and impaired vision
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease