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 ...

was born with microphthalmia, or small eye syndrome, which left her blind in one eye.... Six-month-old baby ‘born with the eyes of a cat’ is the ‘youngest person in UK to ever be diagnosed ...