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GENATLAS PHENOTYPE

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

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