Abstract
A patient presented with several months of decreased vision in the left eye. Visual acuity on presentation was 20/20 in the right eye and 20/50-2 in the left eye, with normal anterior segment findings bilaterally. Fundus examination of the left eye revealed three round, nodular temporal retinal lesions with exudative changes and associated paired engorged feeding and draining vessels. The larger lesions also demonstrated fibrovascular membranes with vitreoretinal traction. Fundus autofluorescence showed lesion hypoautofluorescence, and mac OCT confirmed a pigment epithelial detachment, RPE changes, and intraretinal hyperreflective material consistent with exudation in the left eye. Systemic history revealed a prior brain hemangioblastoma, and the constellation of findings led to a diagnosis of retinal hemangioblastoma associated with Von Hippel-Lindau (VHL) disease. This patient was treated with intravitreal anti-VEGF injections and, ultimately, pars plana vitrectomy with membrane peel, endolaser, and cryotherapy as the tractional membranes progressed to involve the macula. Post operative best corrected vision was 20/40 in the left eye. Retinal hemangioblastomas are benign vascular hamartomas occurring in 40–80% of patients with VHL, resulting from biallelic loss of the VHL tumor suppressor gene, stabilization of HIF-1α/2α, and downstream VEGF-driven angiogenesis. Management is guided by lesion size, location, and extent of exudation, ranging from observation to laser photocoagulation, cryotherapy, photodynamic therapy, anti-VEGF injections, proton beam radiotherapy, or vitreoretinal surgery, alongside systemic surveillance for CNS hemangioblastoma, renal cell carcinoma, and pheochromocytoma. Although the tumors themselves are benign, visual prognosis can be guarded, underscoring the importance of early detection, genetic confirmation, and close longitudinal follow-up in this population.
Presentation Date: 09/03/2026
Issue Date: 09/25/2026
