Mira Silbert Aumiller1. 1. Wilmington Delaware Veteran's Administration Medical Center, Wilmington, Delaware, USA. mira.aumiller@med.va.gov
Abstract
BACKGROUND: The phakomatose von Hipple-Lindau (VHL) disease is a multisystem disorder characterized by hemangioblastomas of the central nervous system (CNS), retinal angiomas, and multiple cysts and tumors of the viscera. Retinal capillary hemangiomas are the most common manifestation of VHL disease, which can occur in the optic nerve, where it may simulate disc edema, or in the retinal periphery, which is characterized by massive retinal exudation. Both locations can result in progressive accumulation of exudates leading to a decrease in visual acuity and potentially to a serous retinal detachment. CASE REPORT: A juxtapapillary hemangioma was observed in a 72-year-old man who presented for a routine examination. The patient was asymptomatic, despite the presence of a trace afferent papillary defect. This finding had to be carefully differentiated from sectoral disc edema. Blood tests, computed tomography (CT), and magnetic resonance imaging (MRI) all had normal results. Fluorescein angiography was a valuable secondary test showing early filling of the vascular network overlying the nerve head and characteristic late hyperfluorescence. CONCLUSIONS: There are 2 distinct forms of capillary hemangiomas--the juxtapapillary tumor or the peripheral capillary hemangioma. Although both types are similar histologically, they do vary in their appearance, differential diagnosis, and treatment. In both types, fluorescein angiography is an extremely helpful ancillary test in making the initial diagnosis. This case report reviews the ocular manifestations and systemic findings associated with VHL disease.
BACKGROUND: The phakomatose von Hipple-Lindau (VHL) disease is a multisystem disorder characterized by hemangioblastomas of the central nervous system (CNS), retinal angiomas, and multiple cysts and tumors of the viscera. Retinal capillary hemangiomas are the most common manifestation of VHL disease, which can occur in the optic nerve, where it may simulate disc edema, or in the retinal periphery, which is characterized by massive retinal exudation. Both locations can result in progressive accumulation of exudates leading to a decrease in visual acuity and potentially to a serous retinal detachment. CASE REPORT: A juxtapapillary hemangioma was observed in a 72-year-old man who presented for a routine examination. The patient was asymptomatic, despite the presence of a trace afferent papillary defect. This finding had to be carefully differentiated from sectoral disc edema. Blood tests, computed tomography (CT), and magnetic resonance imaging (MRI) all had normal results. Fluorescein angiography was a valuable secondary test showing early filling of the vascular network overlying the nerve head and characteristic late hyperfluorescence. CONCLUSIONS: There are 2 distinct forms of capillary hemangiomas--the juxtapapillary tumor or the peripheral capillary hemangioma. Although both types are similar histologically, they do vary in their appearance, differential diagnosis, and treatment. In both types, fluorescein angiography is an extremely helpful ancillary test in making the initial diagnosis. This case report reviews the ocular manifestations and systemic findings associated with VHL disease.