We performed mutation analysis in one reported patient 2 and two undescribed patients with OFCD syndrome, as well as in eight patients affected with Lenz microphthalmia syndrome, to confirm that ...

They may also be part of more generalised syndromes, such as CHARGE syndrome. Anophthalmia, microphthalmia, and coloboma are likely to be caused by disturbances of the morphogenetic pathway that ...