aniridi

Aniridia is a rare genetic disorder characterized by the partial or complete absence of the iris, the colored part of the eye. The iris is responsible for controlling the size of the pupil and regulating the amount of light that enters the eye. In individuals with aniridia, the iris may appear as a small ring, a stump, or be entirely missing. This absence can lead to a variety of vision problems.

The primary cause of aniridia is a mutation in the PAX6 gene, which plays a crucial role in the development of the eyes and other organs during fetal development. Aniridia is typically inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. However, spontaneous mutations can also occur.

Symptoms of aniridia vary in severity and can include light sensitivity (photophobia), poor vision, nystagmus (involuntary eye movements), glaucoma, cataracts, and underdevelopment of the optic nerve. Because the iris is absent or underdeveloped, the pupil appears large and may be irregular. This can make it difficult for affected individuals to see clearly, especially in bright light.

There is no cure for aniridia, but treatments focus on managing the associated symptoms and improving vision. This may involve wearing tinted glasses or contact lenses to reduce glare and light sensitivity, surgical interventions for glaucoma or cataracts, and vision therapy. Regular eye examinations are essential to monitor for complications and to adjust treatment as needed. Aniridia can affect one or both eyes.