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Congenital stromal corneal dystrophy

Disease definition

Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.

ORPHA:101068

  • Synonym(s):
    • CSCD
    • Congenital hereditary stromal dystrophy
    • Witschel dystrophy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: H18.5
  • OMIM: 610048
  • UMLS: C1864738
  • MeSH: -
  • GARD: -
  • MedDRA: -

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