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Aniridia is a serious and rare eye disorder in which the iris is partly or completely gone. It usually happens in both eyes. The pupil is abnormally large and may be oddly shaped. Aniridia means “lack of an iris.” It can also affect the eye’s cornea, anterior chamber, lens, retina, and optic nerve. Some of these problems are present from birth. Others may happen later in life.
The iris is the circular, colored structure of your eye. It controls the size of your pupil and the amount of light that enters your eye. Problems with other parts of your eye may cause issues that are more significant than aniridia.
Usually, aniridia happens on its own. In some cases, aniridia is one of several syndromes that are associated with other symptoms. About an equal number of people of both sexes are affected. Aniridia may be more common in certain parts of the world.
Researchers think many cases of aniridia happen because of a problem with a gene known as PAX6. PAX6 is part of the genetic information you pass to your children. This gene is crucial for eye health and development. If PAX6 doesn’t work right, your eyes may not develop properly. This may cause aniridia.
If someone in your family has aniridia, you have an increased risk for it. Most forms of aniridia are autosomal dominant. That means that a child of a person with aniridia has a 50% chance of having it. However, some people who have aniridia don’t have any family with the condition.
Aniridia can cause a variety of symptoms, such as:
Usually, aniridia affects only your eyes. However, some people have aniridia along with other symptoms. The most common are Wilms tumor (tumor of the kidney), genitourinary problems, and mental retardation. Together with aniridia these are known as WAGR. In rare cases, aniridia can happen with Gillespie syndrome. This is a rare syndrome that affects the eyes and the brain. People with disorder also have mental retardation and balance problems.
Diagnosis of aniridia usually happens early in life. To diagnose the condition, a healthcare provider will ask about your child’s medical history. He or she will also have a physical exam. This includes an eye exam. The healthcare provider may be able to see a small rim of the iris when looking at your child’s eye.
In some cases, a healthcare provider might order tests. These are done to get information about the genes involved.
Children with aniridia need regular eye exams to check their vision. Your child’s healthcare provider will also need to carefully watch for complications of aniridia. These may include cataracts and glaucoma. These problems may need their own treatment.
Many children with aniridia need special glasses. These are to protect their eyes from sunlight and injury. Glasses can also help correct any loss of vision sharpness. Some people may be able to wear a special type of painted soft contact lens. These can help to reduce glare, sharpen vision, and improve the appearance of the eyes.
An eye healthcare provider may also treat aniridia by replacing the iris with an artificial iris. This is done with surgery.
Aniridia can cause severe problems, many of which are very common. These may happen soon after birth. Or they may happen later in life. Some of these health conditions are also common in older people who don’t have aniridia. But with aniridia, they happen at an earlier age. Complications can include:
These complications can cause a number of symptoms, including:
Your child might need medicated eye drops or surgery to treat these complications.
Most children with aniridia will be able to attend a normal school. However, your child may need extra support in the classroom to cope with his or her visual issues.
You may find a support group helpful. Aniridia Foundational International is a support group for people with aniridia and their family. You can contact the foundation at www.aniridia.net.
Call 911 right away if your child has sudden vision loss or sudden eye pain.
Aniridia is a serious and rare eye disorder in which the iris is partially or completely absent, generally in both eyes. Aniridia can also affect the eye’s cornea, anterior chamber, lens, retina, and optic nerve.
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