The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature.

Retinal arteriovenous malformations represent a rare syndrome in which a direct connection of major vessels without interposition of capillaries may lead to various complications such as thrombosis and vessel occlusion. This review comprises the computer-stored data of all the 121 patients with arteriovenous malformations described in the literature. Twenty-seven patients had typical Bonnet-Dechaume-Blanc syndrome (in this article designated as congenital retinocephalofacial vascular malformation syndrome), 25 had incomplete congenital retinocephalofacial vascular malformation syndrome (without facial skin lesions), 57 had isolated retinal arteriovenous malformations, and 12 had arteriovenous communications of the retina and distinct neurological signs, but without neuroradiological evidence of cerebral arteriovenous malformations (presumed cerebral arteriovenous malformations). Concerning the retinal findings, we found a distinct difference by comparing patients with congenital retinocephalofacial vascular malformation syndrome and those with isolated retinopathy without cerebral or facial malformations: extensive retinal malformations of vessels of most parts of the fundus occurred conspicuously more often in patients with retinal and cerebral arteriovenous malformations. In contrast, local retinal arteriovenous malformations occurred in all patients with isolated retinopathy without cerebral or facial malformations and rarely in patients with congenital retinocephalofacial vascular malformation syndrome. In conclusion, patients with arteriovenous communications of the retina should be examined early with brain and orbital neuroimaging to rule out cerebral arteriovenous malformations. Current therapeutic strategies include endovascular, surgical, and radiation procedures.