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Congenital hereditary endothelial dystrophy type I

Disease definition

Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.

ORPHA:98975

  • Synonym(s):
    • Autosomal dominant CHED
    • Autosomal dominant congenital hereditary endothelial dystrophy
    • CHED1
    • CHEDI
    • Congenital hereditary endothelial dystrophy type 1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: H18.5
  • OMIM: 121700
  • UMLS: C1562689
  • MeSH: -
  • GARD: -
  • MedDRA: -

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