Aniridia

Aniridia is a rare genetic condition in which the iris is partially or completely missing, usually affecting both eyes and reducing vision.

Common symptoms

Reduced visual acuity, marked sensitivity to light, nystagmus, and sometimes difficulty with glare and fine detail.

Description

Aniridia is present from birth and is caused by changes in the PAX6 gene, which has a key role in early eye development. As well as the visible absence of the iris, the condition affects the development of other parts of the eye including the fovea, lens, and optic nerve.

Vision is usually reduced from birth and many people with aniridia have associated conditions such as cataract, glaucoma, or corneal changes that may develop or progress over time. Regular specialist monitoring is therefore important throughout life.

There is no cure, but tinted contact lenses or glasses can reduce glare and improve comfort, and low vision aids can help with day-to-day tasks. Treatment of associated conditions, such as glaucoma or cataract, is tailored to the individual.