Up to 90% of cases with aniridia can be explained by loss‐of‐function mutations in the PAX6 gene (Hingorani et al., 2012); rarely, disruption of FOXC1, PITX2, and other genes have been identified as causative (Hall et al., 2019; Hingorani et al., 2012). The gene discussed is PAX6; the disease is isolated aniridia.