Aniridia

Aniridia is defined as a partial or complete absence of the iris. Aniridia can be either congenital or acquired. Congenital aniridia is a rare disease that affects both eyes. It is autosomal dominant in the majority. Most of the other cases of congenital aniridia are sporadic. Sporadic aniridia may correlate with WAGR syndrome (Wilm tumor, aniridia, genitourinary anomalies, and mental retardation). A minority of congenital aniridia may be transmitted autosomal recessively called the Gillespie syndrome (aniridia, cerebellar ataxia, and mental retardation). Research has noted a mutation of the PAX6 gene at chromosome 11p13 in congenital aniridia. Acquired aniridia occurs after trauma or ocular surgery.