Epidemiological studies have predicted the contribution of both genetic and environmental factors in the pathogenesis of congenital eye defects including anophthalmia and microphthalmia [26], and the wide phenotypic spectrum seen may result from the impact of other factors such as modifying genes or environmental influences affecting the ALDH1A3-associated eye disease phenotype. The gene discussed is ALDH1A3; the disease is Anophthalmia.