Background and purpose Walker-Warburg syndrome is a congenital autosomal re
cessive oculocerebral disorder characterised by hydrocephalus, brain agyria
, microphthalmos and retinal dysplasia with or without meningoencephalocele
. We describe an unusual finding of congenital unilateral glaucoma and buph
thalmos in one eye and microphthalmos in the fellow eye of two neonates wit
h Walker-Warburg syndrome.
Patients Two neonates with Walker-Warburg syndrome and unusual findings of
buphthalmos in one eye and a microphthalmic fellow eye are presented.
Results Histological examination of the buphthalmic eyes revealed the prese
nce of mesenchymal tissue in the anterior angle covered by endothelium. No
anterior chamber angle was identified in the microphthalmic fellow eye and
the iris was adherent to the corneal periphery.
Conclusions Congenital buphthalmos may also appear in Walker-Warburg syndro
me. The buphthalmos may result from later embryonal ocular developmental ar
rest than that of the microphthalmic eye.