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Rieger anomaly

Disease definition

Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld’s anomaly (see this term).

ORPHA:91483

  • Synonym(s): -
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q13.8
  • OMIM: 137600  601631  602482
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: 10059198

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