Clinical Course of Rare Supratentorial Hemangioblastomas in von–Hippel Lindau Disease That Affect the Afferent Visual Pathway From the Retrobulbar Optic Nerve to the Optic Chiasm

Abstract

Purpose: : To report clinical findings of rare supratentorial hemangioblastomas affecting the afferent visual pathway from the retrobulbar optic nerve to the optic chiasm/infundibulum associated with von Hippel–Lindau Disease (VHL).

Methods: : In a case series of 12 patients with VHL, supratentorial lesions affecting the anterior visual pathway either with or without accompanying cerebellar hemangioblastomas were examined by MRI. The clinical course including visual fields and MRI findings of these patients with hemangioblastomas of the retrobulbar optic nerve through the optic chiasm/infundibulum are described.

Results: : These 12 VHL patients (age range of 23–69 years) were diagnosed at a mean age of 24 ± 13.9 years, most often with retinal disease. Mean follow–up was 6 ± 4 years. Seven of the 12 patients were female. Greater than 75% had other CNS lesions which included cerebellar hemangioblastomas and 50% had pheochromocytomas. A vast majority (11/12) had other retinal hemangioblastomas and 50% had enucleation. Fifty percent of patients with retrobulbar optic nerve hemangioblastomas experienced visual loss as assessed by visual fields though some were asymptomatic. Four patients underwent surgical resection. Growth patterns and pathology were similar to other hemangioblastomas in the central nervous system.

Conclusions: : These rare intracranial hemangioblastomas associated with VHL were found in the afferent visual pathway along the retrobulbar optic nerve to the chiasm. Early screening of VHL patients with MRIs may yield a larger number of patients with intracranial lesions. On MRI, these lesions may demonstrate chiasmal or optic tract edema, associated cysts, and T2 flow void. Lesions may remain radiographicly and clinically stable for long periods of time while others may enlarge radiographicly but have a stable clinical exam with no visual or neurological progression. Finally, lesions may progress by both radiographic and clinical examination and surgical resection should be considered. Close observation with coordination between neuroradiology, neurosurgery, and ophthalmology is advised.

Keywords: tumors • clinical (human) or epidemiologic studies: natural history • visual fields