Glaser T, Jepeal L, Edwards JG, Young SR, Favor J, et al. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central-nervous-system defects. Nature Genetics. 1994; 7 (4): 463–471. The gene discussed is PAX6; the disease is Anophthalmia.