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What is Aniridia?

Aniridia is a genetic eye condition that is present at birth (congenital) and is almost always bilateral.
Click here to find out more about The genetics of aniridia

Aniridia literally means "without iris." In most cases this is the most visible sign of the condition. However, aniridia is caused when the gene responiable for eye development - the PAX6 gene - does not function correctly. This causes the eye to stop developing too early and when the baby is born most of the eye is underdeveloped to some degree. Some aniridic eyes are more developed than others and therefore it is difficult to say exactly how aniridia will progress in an individual, however, in general people with aniridia are prone to.

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Iris hypoplasia: No iris

Nystagmus: Wobbly eyes

Cataracts: Cloudy lens

Glaucoma: Damage to the optic nerve caused by increased eye pressure

Aniridic Keratopathy: Cloudy corneas

Fovea/macular hypoplasia: Underdevelopment of the retina

Optic Nerve hypoplasia: Underdevelopment of the optic nerve

Amblyopia: Loss of vision in a non-dominant eye

Microcornea: small cornea

Stabismus: squint, crosseyes

Some small studies in to the affect of the PAX6 gene have shown it can have a mild affect on the brain and the pancreas and therefore, people with aniridia may be prone to

Dysosmia: impaired sense of smell

Dysnomia: Difficulty in recalling individual words while showing understanding of the meaning

Glucose Intolerance: This is the precursor to diabetes which has no physical signs but may lead to diabetes. There is only one reported family in which aniridia and diabetes is linked.

Aniridia may also be a symptom of two other genetic syndromes,

WAGR

Gillespie syndrome