To date, 221 mutations in PAX6 have been reported; most are associated with aniridia, though some mutations are associated with other ocular diseases such as coloboma, morning glory disc anomaly, anterior segment dysgenesis, and cataract with late-onset corneal dystrophy (ClinVar: PAX6[gene]) [2–6, 17–37]. Here, PAX6 is linked to coloboma.