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Clinical Presentation

  • Congenital partial or complete iris hypoplasia
  • Limbal stem cell deficiency
    • Secondary corneal opacities and vascularisation
  • Cataract
  • Glaucoma
  • Almost always associated with foveal hypoplasia leading to reduced vision, accompanied by nystagmus
  • Optic nerve hypoplasia or coloboma


  • 2/3 autosomal dominant: usually not associated with WAGR syndrome
  • 1/3 sporadic: In cases of chromosomal rearrangement with deletion of PAX6 and WT1, associated with WAGR syndrome


  • Ultrasound of the abdomen to check for Wilms tumor
    • Every 3 months up to age 5
    • Every 6 months up to age 10
    • Annually up to age 16
    • Note: not necessary if there is no WT1 mutation
  • Genetic counseling (PAX6? WT1?)

Special considerations for Aniridia patients with limbal stem cell deficiency:

  • Tetracaine contraindicated, even during cataract surgery (prefer surgery under general anaesthesia)
  • Drops should always be preservative-free, avoid prostaglandin analogues


  • EyeWiki Aniridia
  • The Wills Eye Manual: Office and Emergency Room Diagnosis and Treatment of Eye Disease; Nika Bagheri MD, Brynn Wajda MD, et al; Lippincott Williams&Wilkins; 7th Edition (2016)
  • Kanski’s Clinical Ophthalmology: A Systematic Approach; Jack J. Kanski MD, Brad Bowling MD; Saunders Ltd.; 8th Edition (2015)