Objective: To report clinical findings of rare retrobulbar optic nerve hemangioblastomas associated with von Hippel-Lindau disease (VHL).
Design: Retrospective observational case series.
Participants: Nine patients with VHL.
Methods: The clinical course and magnetic resonance imaging findings of patients with VHL and hemangioblastomas affecting the anterior visual pathway from the intraorbital optic nerve to the optic chiasm are reviewed.
Main outcome measure: Clinical course of retrobulbar optic nerve hemangioblastomas.
Results: The mean age of VHL diagnosis was 24+/-14 years, and mean follow-up was 5+/-4 years. All had other CNS lesions and retinal hemangioblastomas. Approximately 50% (5/9) had a previous enucleation or had visual acuity loss (4/9), some due to other VHL ocular complications. Four patients underwent surgical resection of an intracranial hemangioblastoma. Growth patterns and pathology are similar to those of other hemangioblastomas in the CNS.
Conclusions: Although these lesions are rare, patients with VHL who present with signs of optic neuropathy should be evaluated for anterior visual pathway hemangioblastomas impinging on the optic nerve from the orbit to the chiasm. On neuroimaging, the hemangioblastomas may demonstrate chiasmal or optic tract edema, associated cysts, and T(2) flow voids. Lesions may remain radiologically and clinically stable, evolve radiographically with no visual or neurological progression, or progress clinically and radiographically. Patients at risk for visual loss should be considered for surgical resection. Close coordination among neuroradiology, neurosurgery, and ophthalmology patient care teams is advised for optimal management of these patients.