At present, approximately 680 different mutations in the PAX6 gene are known to cause aniridia, while only 12 different mutations of the PAX6 gene are associated with isolated foveal hypoplasia (Human Gene Mutation Database, Professional version 2023.1, https://portal.biobase-international.com/hgmd/pro/star/php, accessed on 1 June 2023). Here, PAX6 is linked to aniridia.