PAX6: Following discovery of mutations in the gene for paired-box 6 in mice (Pax6) and humans (PAX6) as causative for the Small eye (Sey) and aniridia, respectively [88,89], nonsense mutations in PAX6 on chromosome 11p were found in a family trio with paternal congenital (lamellar and sub-capsular) cataract with late-onset corneal dystrophy, maternal aniridia, and syndromic anophthalmia with craniofacial and neurological defects in the compound-heterozygote proband—consistent with gene dosage effects [90]. This evidence concerns the gene PAX6 and isolated aniridia.