In patients with PAX6-related aniridia, two-thirds are familial cases, while the remaining are sporadic comprising of de novo point variants or, less frequently, larger deletions encompassing PAX6 and the neighbouring gene WT1, resulting in Wilms tumour, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome [5, 9]. Here, PAX6 is linked to aniridia.