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Aniridia

What is Aniridia?

Aniridia is a rare genetic eye condition causing incomplete formation of the iris. It is present at birth. Aniridia causes loss of vision in both eyes.

People who have aniridia have enormous pupils. The enormous pupil is often called a 'black iris'.

Aniridia literally means "without iris."

What causes Aniridia?

Aniridia is inherited from parents. Aniridia is caused when the gene responsible for eye development, the PAX6 gene, does not function correctly. The dysfunction of the PAX6 gene causes the eye to stop developing too early.

Side Effects of Aniridia

People who have aniridia may also develop:

  • a tumor in the kidney
  • sensitivity to light
  • nystagmus
  • glaucoma
  • corneal disease
  • cataract
  • lens dislocation
  • optic nerve disease

Can Aniridia be Treated?

Unfortunately, aniridia cannot be treated. However, treatments are available to help prevent the side effects of aniridia.

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