Retrobulbar Hemangioblastomas in von Hippel-Lindau Disease: Clinical Course and Management

Abstract

BACKGROUND Retrobulbar hemangioblastomas involving the optic apparatus in patients with von Hippel-Lindau disease (VHL) are rare, with only 25 reported cases in the literature. OBJECTIVE To analyze the natural history of retrobulbar hemangioblastomas in a large cohort of VHL patients in order to define presentation, progression, and management. METHODS Clinical history and imaging of 250 patients with VHL in an ongoing natural history trial and 1774 patients in a neurosurgical protocol were reviewed. The clinical course, magnetic resonance images, treatment, and outcomes were reviewed for all included patients. RESULTS A total of 18 patients with retrobulbar hemangioblastoma on surveillance magnetic resonance imaging met the inclusion criteria for this study. Of the 17 for whom clinical information was available, 10 patients presented with symptoms related to the hemangioblastoma, and 7 were asymptomatic. The mean tumor volume was larger for symptomatic (810.6 ± 545.5 mm3) compared to asymptomatic patients (307.6 ± 245.5 mm3; P < .05). A total of 5 of the symptomatic patients were treated surgically and all experienced improvement in their symptoms. All 3 symptomatic patients that did not undergo intervention had continued symptom progression. Long-term serial imaging on asymptomatic patients showed that these tumors can remain radiographically stable and asymptomatic for extended periods of time (101.43 ± 71 mo). CONCLUSION This study suggests that retrobulbar hemangioblastomas may remain stable and clinically asymptomatic for long durations. Recent growth and larger tumor volume were associated with symptom occurrence. Surgical treatment of symptomatic retrobulbar hemangioblastomas can be safe and may reverse the associated symptoms.

Optic nerve haemangioblastoma in association with von Hippel-Lindau syndrome: case report and literature review

“…Stereotactic radiosurgery is a viable approach for the treatment of small ONH and presents the benefit of reduced morbidity in comparison to surgical resection. 11 …”

“…In their study, Alvarez et al 11 analysed the natural progression of retrobulbar haemangioblastomas in a substantial cohort consisting of 250 patients diagnosed with VHL syndrome. The primary objective of their investigation was to assess various aspects related to the manifestation, clinical course, progression, MRI characteristics, treatment modalities, and subsequent response of retrobulbar haemangioblastomas.…”

Unique Properties of Clinical Manifestation and Magnetic Resonance Imaging for Differential Diagnosis of Optic Nerve Hemangioblastoma

“…At presentation, ONH is usually unilateral, with well-circumscribed vascular lesions composed of stromal cells and vascular endothelial cells. In addition, 40-71% of the ONH in patients have been reported to occur in the context of the von Hippel-Lindau (VHL) disease 5,6 . These lesions can be asymptomatic in the early stage, with a median age of 37 years, and tend to slowly enlarge with visual loss, proptosis, and ocular pain over time 4 .…”

“…However, most previous studies of ONH are limited to case reports due to the rarity of this disease. Although most studies have performed MRI examinations, few of them provided detailed descriptions of the radiological results, with various qualities of images 5,7 .…”