Parapapillary retinal hemangioblastoma presenting as an epiretinal membrane in a patient with Von Hippel–Lindau disease: a case report

Background Retinal hemangioblastoma (RH) is a benign, highly vascularized tumor arising from the neurosensory retina. It may occur sporadically or as a manifestation of Von Hippel–Lindau (VHL) disease. Here, we describe a case of parapapillary RH in a patient with VHL disease that presented clinically as an epiretinal membrane overlying the optic disc. Case description A 6-year-old boy presented with an abnormality detected on left fundus examination. Fundus photography and optical coherence tomography revealed an epiretinal membrane on the temporal side of the optic disc causing retinal traction and deformation. Fundus fluorescein angiography demonstrated early hyperfluorescence within the lesion. Vitreoretinal surgery was performed with satisfactory visual recovery. Histopathological and immunohistochemical findings confirmed the diagnosis of RH. Genetic analysis identified a heterozygous splice-site mutation (c.464-2A>G) in the VHL gene. Conclusion Parapapillary RH can masquerade as an epiretinal membrane over the optic disc, posing a diagnostic challenge. Histopathological confirmation and genetic evaluation are essential to establish the diagnosis and to identify underlying VHL disease.