Aniridia can appear as an isolated observation or as part of the WAGR (Wilms' tumor, aniridia, genitourinary abnormalities, and mental retardation) syndrome (Hanson and Van Heyningen, 1995; Lee et al., 2008; Ton et al., 1991), which is caused by interstitial deletions in the 11p13 region (Daruich et al., 2023; Yokoi et al., 2016) The complete loss of human PAX6, seen in a case of compound heterozygosity, leads to the absence of eyes, severe CNS abnormalities, and a small deformed nose (Glaser et al., 1994). The gene discussed is PAX6; the disease is isolated aniridia.