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Heterozygous mutations of the human PAX6 gene cause aniridia (absence of the iris) and a range of other congenital eye malformations [2]. Neural defects such as foveal hypoplasia and optic nerve hypoplasia are common in PAX6-associated eye disease [3-5]. Homozygous mutations in man and mouse are lethal and result in severe developmental abnormalities including anophthalmia, severe reduction of the olfactory structures and gross brain malformations [2,6]. The roles of PAX6 in brain development have mainly been studied in homozygous mutant mice or rats and include arealisation of the cerebral cortex [7], formation of the prosencephalon-mesencephalon boundary [8], axon guidance [8], differentiation of neurons from glia [9] and neuronal migration in the cerebellum [10]."}

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