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Rieger anomaly

Synonym(s) -
Prevalence -
Inheritance Autosomal dominant
Age of onset Neonatal
  • Q13.8
MeSH -
  • 10059198


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).

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Detailed information

Summary information
Guidance for genetic testing
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