Abstract
Background and purpose Walker-Warburg syndrome is a congenital autosomal recessive 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 buphthalmos in one eye and microphthalmos in the fellow eye of two neonates with 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 presence 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 syndrome. The buphthalmos may result from later embryonal ocular developmental arrest than that of the microphthalmic eye.
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Rehany, U., Segal, Z. & Rumelt, S. Congenital unilateral buphthalmos in Walker-Warburg syndrome: A clinicopathological study. Eye 13, 778–780 (1999). https://doi.org/10.1038/eye.1999.227
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DOI: https://doi.org/10.1038/eye.1999.227