Pax6 was then identified as a master control gene for eye development [91,92] and, currently, over 250 PAX6 mutations have been associated with anophthalmia, aniridia, microphthalmia, cataract and other defects in humans (Leiden Open Variation Database, https://databases.lovd.nl/shared/genes/PAX6, accessed on 12 June 2024). Here, PAX6 is linked to isolated aniridia.