Aniridia

Condition Description

Aniridia is a congenial condition that causes the eye to be undeveloped. A gene responsible for eye development does not function correctly and interferes with the development of the iris in the early months of fetal life. The baby is born with eye problems that vary among individuals affected with this condition. Typically, they will have very little iris (iris hypoplasia), and the tissue that is there will form a collar around the pupil of the eye, which prevents the eye from constricting in bright light. There are many variations of aniridia that range from mild to severe. Vision may be limited or greatly reduced, depending on what other conditions affect the eyes.

Parents will often detect this condition when the baby shows sensitivity to light and the pupil of the eye seems very large. With careful treatment, children with aniridia will have a very good outcome although there is no cure, and they will need to have assistance for adapting to living with reduced vision.

This is a very rare disorder, occurring in one of 60,000-90,000 live births. Aniridia is inherited as a dominant gene, and therefore each child born to a parent with the condition will have a 50% chance of having the gene.

Using data from births to Hennepin and Ramsey county residents between 2012-2016, we found that fewer than 1 baby was born with aniridia per 10,000 births. Using this data, we estimate about 1 baby is born with aniridia every year in Minnesota.

Parental education and support are essential, and local, regional and national organizations may be very helpful.

Condition specific organizations

• Medscape
• Genetics Home Reference