With the advances in neuroimaging technologies, both anatomical (changes in the anterior commissure, posterior commissure, pineal gland, corpus callosum, optic chiasm, and olfactory bulb) and functional neuro-abnormalities (deficits in olfactory function, cognitive ability, and auditory interhemispheric transfer) have been described in individuals with aniridia (14), highlighting the crucial role of PAX6 in development of central nervous system. Here, PAX6 is linked to isolated aniridia.