PAX6 and isolated aniridia: All analyses were performed in a research laboratory in Wisconsin from January 2019 to September 2025.<h4>Interventions</h4>OGM and lrWGS.<h4>Main outcomes and measures</h4>Identification of a structural variant disrupting PAX6 expression in an individual with classic aniridia, following negative prior testing including srWGS.<h4>Results</h4>OGM identified a 55-kb deletion on 11p13 encompassing all PAX6 exons and exon 12 of ELP4, with insertion of this segment into 11q21.