Silmäläishäviöitä

Silmäläishäviöitä, known in English as aniridia, is a rare genetic disorder characterized by the partial or complete absence of the iris, the colored part of the eye. It is typically bilateral, affecting both eyes. The condition is caused by mutations in the PAX6 gene, which plays a crucial role in the development of the eye and other organs.

Individuals with aniridia often experience several associated eye conditions. These can include impaired vision, nystagmus (involuntary eye movements), photophobia (sensitivity to light), glaucoma (increased intraocular pressure), cataracts (clouding of the lens), and underdeveloped optic nerves. The severity of vision loss can vary significantly among affected individuals.

Beyond ocular manifestations, aniridia can also be part of rarer syndromes that affect other parts of the body. WAGR syndrome, for instance, is associated with aniridia, Wilms' tumor (a type of kidney cancer), genitourinary anomalies, and intellectual disability. However, many individuals with aniridia have no other associated health issues.

Diagnosis is usually made at birth or in early childhood based on the characteristic appearance of the eyes. Genetic testing can confirm the diagnosis and identify specific PAX6 mutations. There is no cure for aniridia, but management focuses on addressing the associated symptoms. This may involve specialized eyewear to reduce light sensitivity, medications or surgery for glaucoma and cataracts, and low vision aids to optimize remaining sight. Regular ophthalmological monitoring is essential throughout life.