Background: Sturge-Weber syndrome, Klippel-Trenaunay-Weber syndrome, and oculodermal melanocytosis are neural crest disorders in which glaucoma is known to occur. Phakomatosis pigmentovascularis is a neural crest disorder that is found almost exclusively in Asians and has not been described previously in the ophthalmic literature.
Methods: The authors describe nine patients with combined oculodermal vascular malformations (five pigmentovascularis, two Klippel-Trenaunay-Weber, two Sturge-Weber) and oculodermal melanocytosis.
Results: Ocular melanocytosis was present bilaterally in seven patients and unilaterally in two. Of the 16 hyperpigmented eyes, 13 also had episcleral vascular malformations (EVM). Congenital glaucoma developed in all 10 eyes that had total melanocytosis and EVM. Ocular hypertension developed in one eye with diffuse melanocytosis but partial EVM in childhood. Glaucoma did not develop in one eye with extensive EVM but partial melanocytosis or in the four eyes with ocular melanocytosis but not EVM.
Conclusion: When oculodermal melanocytosis and nevus flammeus (phakomatosis pigmentovascularis) occur together, with each extensively involving the globe, there is a strong predisposition for congenital glaucoma. When one or both are present with only partial involvement, elevated intraocular pressure may develop later in life, and patients should be followed-up at regular intervals for the development of glaucoma. The vascular malformations appear to play a more important role in the predisposition to glaucoma than does the oculodermal melanocytosis.