To elucidate the pathogenesis of posterior embryotoxon, we estimated i
ts incidence in our clinic and evaluated its associated ocular and sys
temic anomalies. Slit-lamp and gonioscopic examinations were performed
on 440 randomly selected patients at Nagoya City University Hospital
over a 10-month period. Posterior embryotoxon was detected in 107, 50
bilateral and 57 unilateral, cases (24.3%). Twelve (11.2%) of the 107
cases had open-angle glaucoma. Accompanying ocular anomalies included
six cases of sclerocornea, two each of persistent pupillary membrane a
nd familial exudative vitreoretinopathy, and 1 each of melanocytoma of
the optic nervehead, choroidal nevus and subconjunctival dermoid cyst
. Associated systemic anomalies included three cases of Alagille syndr
ome, two of congenital biliary atresia, and one each of congenital fac
ial palsy with microtia, congenital adrenal hyperplasia, empty sella s
yndrome, Hirschsprung disease and Wilson disease. Many of these ocular
and systemic anomalies were caused by the maldevelopment of neural cr
est cells. Patients with posterior embryotoxon should be examined for
the possible presence of open-angle glucoma and for ocular and systemi
c anomalies related to maldevelopment of neural crest cells. (C) 1997
Japanese Ophthalmological Society.