STUDY OF THE MOLECULAR BASIS OF DEVELOPMENTAL EYE DEFECTS-MICROPHTALMIA, ANOPHTALMIA AND COLOBOMA (MAC)

Eye developmental anomalies are a relatively common cause of blindness or severe visual impairment in the human population. Within these disorders, microphthalmia (small eyes), anophthalmia (absence of the eyes) and coloboma (the external manifestation of the non closure of the optic fissure) are among the most frequent conditions. The molecular basis of these disorders (also termed MAC) are still poorly understood but more than 2/3 of cases seem to have a genetic cause. To date, however, only a few genes have been clearly demonstrated to be responsible for these diseases, such as in the case of the genes SOX2 (in anophthalmia), CHX10 (in microphthalmia) and PAX2 (in coloboma). This project aims at a better understanding of the molecular mechanisms underlying these disorders. In particular, we will use a multidisciplinary approach to identify additional genes that, because of their similarity to already known MAC genes, will be very likely candidates for these disorders. The recognition of the molecular causes of MACs will be an essential step towards a more correct diagnosis of these disorders and to a better comprehension of the molecular mechanisms underlying eye development.