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GENATLAS PHENOTYPE
last update : 10-04-2018
Symbol PPCD4
Location 8q22.3
Name posterior polymorphous corneal dystrophy 4
Corresponding gene GRHL2
Main clinical features
  • disorder, primarily affecting the corneal endothelium and Descemet membrane
  • mild manifestations of the disease include asymptomatic corneal endothelial changes such as vesicular, band-like, and geographic lesions; in severe cases, corneal endothelial failure may occur and corneal transplantation is required to restore vision
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Remark(s)