Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial 
appearance, moderate-to-severe mental retardation, microcephaly, agenesis of the 
corpus callosum, Hirschsprung disease, congenital heart disease, and genital 
anomalies. Ophthalmological abnormalities have been rarely described in patients 
with this condition which is caused by mutations in the ZEB2 gene. We report a 
9-year-old female with this syndrome who has severe ocular abnormalities 
including bilateral microphthalmia, cataract, and retinal aplasia.