The typical clinical PAX6-related congenital aniridia occurs in several forms: dominant inheritance, occurring sporadically (then inherited dominantly), as part of the WAGR (Wilms tumor, aniridia, genitourethral anomalies, retardation) or WAGRO (WAGR plus “obesity”) syndrome, and associated with other syndromes. The gene discussed is PAX6; the disease is aniridia.