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What is aniridia? 

Aniridia is a rare, ocular, genetic disorder that is characterized by a partially or fully missing iris. This leads the pupil to be abnormally shaped and large. 

What are the symptoms of aniridia?

One or both eyes may be affected in patients with aniridia, which is characterized by symptoms like:

  • Increased sensitivity to light
  • Nystagmus
  • Eyes that don’t line up
  • Poor vision
    • This symptom doesn’t impact every patient

There are also complications that may arise, including glaucoma, cataracts, tearing or detachment of the retina, aniridia-related keratopathy, and issues with the optic nerve. 

What causes aniridia?

Medical professionals suspect the PAX6 gene is mutated in individuals with aniridia. This gene is often passed down in an autosomal dominant pattern; however, some cases do not have a familial component. 

How is aniridia diagnosed?

Diagnosis is often at birth or soon after when doctors perform a physical and ocular examination. They’ll also ask about family medical history. 

What are the symptoms of aniridia?

Monitoring and regular eye exams are necessary for individuals with aniridia. Special glasses are often used to protect the eyes from light and improve vision. In some cases, doctors will perform surgery to give patients an artificial iris. 

Where can I find out more about aniridia?

Aniridia Articles