Aniridia is a rare congenital condition characterized by an underdeveloped or absent iris, usually in both eyes. The term “aniridia” literally means “no iris,” but in fact the iris can be present in people with this condition, although it is usually smaller than usual. While aniridia itself is not necessary harmful, it can be associated with other medical issues, and many people with this condition have vision problems or develop vision problems later in life. People may also find that their eyes attract attention because they look unusual.
In some cases, this condition is inherited, while in others, it is a spontaneous mutation. It is associated with variations on the PAX6 gene which is involved in eye development. In addition to an underdeveloped iris, the patient may also have an underdeveloped eye in general, including a poorly developed retina. Aniridia can be diagnosed shortly after birth because it will be readily visually apparent to observers examining the infant's eyes during well baby exams and health assessments in the early minutes and hours of life.
People with aniridia often develop conditions like glaucoma and cataracts later in life. They can also experience impaired vision, stabismus, and other problems. Consequently, doctors usually recommend monitoring people with aniridia closely so that any signs of complications will be identified early. Prompt intervention can reduce the risk of permanent damage and also make the patient more comfortable.
There is no cure for aniridia, as it is a genetic condition. However, it can be managed with the assistance of an ophthalmologist. Organizations which sponsor research into aniridia are also interested in finding new potential management techniques and treatments, and patients who are willing to be involved in studies can sign up to participate in ongoing research if they are interested. In exchange for participation in research, patients can get access to the latest technology and treatments, and they also have the benefit of knowing that their participation may benefit people in the future.
Sometimes, aniridia appears as part of a larger genetic condition or syndrome. Because of this, it is advisable for a genetic evaluation to be conducted once someone has been diagnosed with this condition. The evaluation will check for conditions commonly associated with aniridia, allowing people to intervene early if there are issues which require action. A genetic counselor can also provide more advice and information for people who are curious about how the condition developed, the chances of having another child with the condition, and so forth.
