Aniridia

Aniridia: A rare genetic disorder that affects the iris of the eye.

Aniridia, also known as irideremia, is a rare congenital disorder characterized by the complete or partial absence of the iris of the eye. The iris, usually colored in various shades of brown, blue or green, plays an important role in regulating incoming light and determining the size of the pupil. However, in patients with aniridia, the iris is either completely absent or incomplete.

Aniridia is caused by genetic mutations, mainly associated with the PAX6 gene, which plays a key role in eye development. This gene controls the formation of visual organs, including the iris, lens and retina. Mutations in the PAX6 gene can result in incomplete development or complete absence of the iris.

Aniridia is usually discovered at birth or in early childhood. Patients with this disease often have vision problems such as decreased visual acuity, photoreactions, and problems with accommodation. Additionally, aniridia may be associated with other eye abnormalities such as glaucoma, cataracts, corneal abnormalities, and abnormal retinal development.

Treatment of aniridia is aimed at improving visual function and reducing associated complications. Treatment options include wearing contact lenses or glasses to correct vision, and undergoing surgery to correct underlying problems such as glaucoma or cataracts.

Moreover, patients with aniridia may require additional help and support, especially if diagnosed in childhood. In such cases, it is important to ensure early intervention and regular follow-up with medical specialists such as ophthalmologists and geneticists to effectively manage the condition and minimize potential complications.

Although aniridia is a rare and complex condition, modern medicine and scientific research are making it possible to more accurately diagnose and treat the condition. Moreover, the development of new technologies and treatments may offer hope for improving the quality of life of patients with aniridia in the future.

Aniridia is a rare congenital malformation of the eye.

Description of the disease Aniridia is a rare disease in which the eye does not have an iris, which allows the eye to change color depending on the environment. This results in a lack of perception of brightness of light and color. The absence of an iris makes the eye vulnerable to infections and damages the light-sensitive cells in the retina. Congenital aniridia is a disease that can be treated with both surgical and conservative treatment. The disease itself is incurable. Both one of the parents and both are susceptible to it equally. The reason lies in a gene mutation, the disruption of which is observed in the cells that take part in the formation of the iris plate of the eye and fundus. Normal iris