Retinal capillary hemangioblastoma in a patient with von Hippel-Lindau syndrome: Case report and a brief review of the literature

Von Hippel–Lindau (VHL) syndrome is a hereditary disorder predisposing patients to multiple vascular tumors, including retinal capillary hemangioblastomas (RCH), which may cause progressive vision loss if undetected or untreated. We describe a 31-year-old man with known VHL syndrome who presented with a blind, painful left eye following recurrent retinal detachments and secondary glaucoma despite multiple surgeries. Ophthalmic examination demonstrated no light perception, rubeosis iridis, and corneal degeneration. B-scan ultrasonography revealed total retinal detachment with an intraocular mass showing calcification, and orbital MRI demonstrated an enhancing intraocular lesion without extraocular extension. Systemic imaging excluded other VHL manifestations. Due to intractable pain and irreversible ocular damage, enucleation was performed. Histopathology confirmed a capillary hemangioblastoma composed of thin-walled vascular channels positive for CD31 and CD34. Genetic testing verified a pathogenic VHL mutation. Postoperatively, the patient achieved pain relief, with no recurrence or systemic involvement at two-year follow-up. This case illustrates advanced ocular complications of VHL-associated retinal hemangioblastoma and highlights the importance of early diagnosis, coordinated multidisciplinary management, and lifelong surveillance to prevent devastating visual outcomes.