Aniridia type 2

Aniridia type 2 is a rare genetic disorder characterized by the partial or complete absence of the iris, the colored part of the eye. This condition is a subtype of Aniridia, a broader category of eye disorders. Aniridia type 2 is caused by mutations in the PAX6 gene and is inherited in an autosomal dominant manner.

Symptoms

The primary symptom of Aniridia type 2 is the partial or complete absence of the iris, which results in decreased vision and increased sensitivity to light. Other symptoms may include nystagmus, a condition characterized by involuntary eye movements, and keratopathy, a disease affecting the cornea. Some individuals with Aniridia type 2 may also develop glaucoma, a condition that damages the optic nerve.

Genetics

Aniridia type 2 is caused by mutations in the PAX6 gene. This gene provides instructions for making a protein that is involved in the formation of tissues and organs during embryonic development. Mutations in the PAX6 gene disrupt the normal development of the eyes, leading to the symptoms of Aniridia type 2.

Diagnosis

Diagnosis of Aniridia type 2 is based on the clinical examination of the eye. Genetic testing can confirm the diagnosis by identifying a mutation in the PAX6 gene.

Treatment

There is currently no cure for Aniridia type 2. Treatment is focused on managing the symptoms and preventing complications. This may include the use of sunglasses to manage light sensitivity, medications to control glaucoma, and regular eye exams to monitor the condition.

See also

• Aniridia
• PAX6
• Genetic disorder
• Iris (eye)