GTR Home > Conditions/Phenotypes > Congenital aniridia

Disease characteristics

Excerpted from the GeneReview: Aniridia
Aniridia is characterized by complete or partial iris hypoplasia usually (but not always) with associated foveal hypoplasia resulting in reduced visual acuity and nystagmus presenting in early infancy. Frequently associated ocular abnormalities (often of later onset) include cataract, glaucoma, and corneal opacification and vascularization. Aniridia may occur either as an isolated ocular abnormality without systemic involvement, caused by mutation of PAX6 or deletion of a regulatory region controlling its expression, or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome, with a deletion of 11p13 involving the PAX6 (aniridia) locus and the adjacent WT1 (Wilms tumor) locus. Individuals with deletion of PAX6 and WT1 are at up to a 50% risk of developing Wilms tumor.

Associated genes

Clinical features

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  • Optic nerve hypoplasia
  • Opacification of the corneal stroma
  • Cataract
  • Glaucoma
  • Nystagmus
  • Foveal hypoplasia
  • Visual impairment
  • Aniridia
  • Abnormality of the macula
  • Aplasia/Hypoplasia of the iris
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