Diagnostic Challenges and Insights in Optic Nerve Hemangioblastoma using Magnetic Resonance Imaging: A Case Report

Optic nerve hemangioblastoma (ONH) is a rare benign tumor. It can be sporadic or associated with Von-Hippel Lindau (VHL) syndrome. Magnetic resonance imaging (MRI) is the most commonly used diagnostic technique for the tumor. However, an accurate diagnosis can be challenging due to the rarity of ONH and its similarity to glioma and meningioma.

A 49-year-old female experienced progressive vision loss for ten years in the right eye, accompanied by proptosis over two years. The ophthalmological examination found her visual acuity of the right eye to have no light perception. Optical coherence tomography showed decreased thickness of the right retinal ganglion cell layer. MRI revealed an oval solid mass within the right retrobulbar space, with isointensity on T1-weighted (T1WI) imaging and heterogeneous hyperintensity on T2-weighted imaging (T2WI). Heterogeneous enhancement was found on gadolinium-enhanced T1WI and dynamic contrast-enhanced MRI. At internal and marginal areas of the mass, multiple flow voids were observed on various sequences, especially on T2WI. Furthermore, the superior, inferior, medial, and lateral rectus muscles of the right eye distinctly atrophied, showing a lower signal intensity on T2WI and less apparent enhancement than the left normal ones. Postoperative pathological diagnosis was hemangioblastoma of the right optic nerve.

Hemangioblastoma should be considered as a differential diagnosis for the space-occupying mass of the optic nerve if there is the presence of flow voids, vivid enhancement, and absence of a dural attachment, regardless of VHL syndrome. Of note, this is the first reported case to consider altered extraocular muscles as a potential point to prompt the diagnosis on MRI.