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GENATLAS PHENOTYPE
last update : 16-05-2018
Symbol FECD3
Location 18q21.2
Name Fuchs endothelial corneal dystrophy 3
Corresponding gene TCF4
Main clinical features
  • common, degenerative, age-related condition that usually presents during the fifth to sixth decade
  • progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium; confluent guttae can be associated with a loss of corneal endothelial cell density to a critical stage when the remaining endothelium is unable to maintain appropriate stromal dehydration leading to fluid accumulation, painful epithelial bullae, and progressive corneal clouding reducing visual acuity
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Remark(s)
  • expansion (≥50 copies) of a non-coding trinucleotide repeat in TCF4 confers >76-fold risk for FECD3 (PMID: 29526280))