Retinal Vascular Anomalies (VHL, Cavernous Hemangioma, Wyburn-Mason)

Excerpt

Retinal vascular anomalies are rare hereditary or sporadic conditions affecting the retina and multiple organ systems. These anomalies include vascular tumors and telangiectasias. The vascular tumors of the retina are retinal capillary hemangiomas, cavernous hemangiomas, racemose hemangiomas, and retinal vasoproliferative tumors. The retinal telangiectasias are observed in conditions such as Coats disease, Leber's miliary aneurysms, and idiopathic juxtafoveal telangiectasias.

Capillary hemangiomas of the retina were first reported by Vigla in 1864 in a patient with central nervous system (CNS) lesions. Retinal capillary hemangiomas are benign vascular tumors originating from the neurosensory retina or optic disc. These tumors are sporadic or associated with Von Hippel-Lindau (VHL) syndrome. VHL syndrome is an inherited autosomal dominant disorder characterized by vascular tumors and cysts in multiple organ systems. Conditions associated with VHL syndrome include CNS and retinal hemangioblastomas, renal cell carcinoma, pheochromocytoma, pancreatic islet tumors, endolymphatic sac tumors, and epididymal, renal, and pancreatic cystadenomas. The retinal tumors typically present as a reddish-orange mass in the retinal periphery, supplied by a pair of dilated and tortuous vessels. Vision loss is due to retinal exudation, detachment, vitreous hemorrhage, and neovascular glaucoma.

Cavernous hemangiomas of the retina, also known as retinal cavernomas, were initially described as angiomatosis retinae by Niccol and Moore in 1934. These hemangiomas are rare non-progressive retinal vascular hamartomas. In some cases, they may involve the CNS, which can cause significant morbidity and mortality if not diagnosed and treated early.

Retinal capillary hemangiomas can manifest as a solitary lesion or part of Wyburn-Mason syndrome, also known as Bonnet-Dechaume-Blanc syndrome. This rare congenital disorder is sporadic and results in arteriovenous malformations (AVM) in the retina, visual pathways, and midbrain, maxilla, and mandible regions. During ophthalmoscopic examination, dilated and tortuous vessels from the optic disc to the retinal periphery are observed. The visual acuity upon presentation ranges from normal to poor, depending on the associated complications.