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GENATLAS PHENOTYPE
last update : 22-01-2010
Symbol FECD1
Location 1p34.3
Name corneal dystrophy, Fuchs endothelial 1
Corresponding gene COL8A2
Other symbol(s) FECD1
Main clinical features
  • corneal guttae are larger, sharply peaked, and initially positioned at edges of endothelial cells
  • early-onset, involving massive accumulation and abnormal assembly of collagen VIII within Descemet's membrane, a process that is presumed to begin during fetal development with abnormal basement membrane assembly rather than a primary defect in endothelial metabolism
  • Genetic determination autosomal dominant
    Related entries including posterior polymorphous corneal dystrophy (MIM 609140)
    Function/system disorder eye
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   abnormal protein/loss of function L450W disease involves massive accumulation and abnormal assembly of collagen VIII within Descemet's membrane, a process that is presumed to begin during fetal development
    Remark(s)
    Genotype/Phenotype correlations L450W associated to Descemet membrane several times thicker than normal and traversed by refractile strands and blebs that stained intensely for COL8A2