Mutations in the PAX6 gene may cause aniridia, coloboma, hereditary keratitis (KERH, OMIM:148190), bilateral optic nerve hypoplasia [12] (BONH), interhemispheric brain malformations [3], Peters syndrome (PAN, OMIM 604229), Gillespie syndrome (OMIM:206700), and probably myopia [13]. Here, PAX6 is linked to Aniridia - cerebellar ataxia - intellectual disability.