Diagnosis is clinical, based mostly on the ocular
findings and on imaging studies confirming absence of the corpus callosum.
Affected male patients present with complicated ocular anomalies such as
microphthalmos, corneal hypoplasia and pannus, cataracts, uveal and optic
nerve hypoplasia, retinal dysplasia, and congenital blepharoptosis and
swollen eyelids. Other consistent findings are microcephaly, agenesis of the
corpus callosum, mental retardation, hypospadias, and cryptorchidism. The
condition is lethal in infancy or early childhood.