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Congenital glaucoma

Disease definition

Congenital glaucoma (CG) is a developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.

ORPHA:98976

  • Synonym(s):
    • Buphthalmia
    • Buphthalmos
    • Buphthalmus
    • Primary congenital glaucoma
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive or Not applicable or Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q15.0
  • OMIM: 231300  600975  613085  613086  617272
  • UMLS: C0020302
  • MeSH: -
  • GARD: -
  • MedDRA: -

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