Imaging features of retinal hemangioblastoma: A case report

Background: Hemangioblastoma typically occurs in the cerebellum, spinal cord, and central nervous system. However, in rare cases, it could occur in the retina or optic nerve. The prevalence of retinal hemangioblastoma is 1 in 73080, and it occurs either alone or as the manifestation of von Hippel Lindau (VHL) disease. Here, we reported a rare case with the imaging features of retinal hemangioblastoma without VHL syndrome, along with the relevant literature review.

Case summary: A 53-year-old man had progressive swelling, pain and blurred vision in the left eye without obvious inducement for 15 d. Ultrasonography revealed a possible optic nerve head melanoma. Computed tomography (CT) showed punctate calcification on the posterior wall of the left eye ring and small patchy soft tissue density in the posterior part of the eyeball. Magnetic resonance imaging showed slightly hyperintense signal on T1-weighted images and slightly hypointense-to-isointense signal on T2-weighted images at the medial and posterior edges of the left eyeball, a significant enhancement was observed in the contrast-enhanced scans. Positron emission tomography/CT fusion images showed that the glucose metabolism of the lesion was normal. Pathology was consistent with hemangioblastoma.

Conclusion: Early identification of retinal hemangioblastoma based on imaging features is of great value for its personalized treatment.