சுருக்கம்

An aggressive case of von hippel-lindau disease: Case report and review of outcomes.

Bruno Barbosa Ribeiro, Catarina S Castro, Miguel R Lume, Maria J Furtado

Purpose: To report a case of exudative retinal detachment secondary to Retinal Capillary Hemangioblastomas (RCH) in a patient with severe Von-Hippel Lindau (VHL) disease. Methods: We conducted a retrospective review of the patient’s clinical records. Informed consent was obtained. Results: We present the case of a 46-year-old female diagnosed with VHL syndrome in 1998. Past medical history is relevant for several neurosurgical interventions due to cerebellar hemangioblastomas. Past ophthalmic history is relevant for Left Eye (LE) evisceration due to RCH with secondary exudative retinal detachment and neovascular glaucoma. Over the course of 10 years, the patient developed multiple Right Eye (RE) RCH, successfully treated and controlled with laser photocoagulation and transscleral cryotherapy. In December 2021, new multiple cerebellar hemangioblastomas were detected on Magnetic Resonance Imaging (MRI) and a pancreatic neuroendocrine tumor was diagnosed. She also experienced rapid growth of new RCH complicated with secondary inferior exudative retinal detachment, treated with laser photocoagulation combined with intravitreal anti-VEGF, with good response and complete resolution of sub retinal fluid. Best corrected visual acuity has been stable throughout follow-up. Conclusion: VHL syndrome is a rare, multisystem disease with high morbidity and retinal capillary hemangioblastoma is the hallmark of ocular manifestations. Although laser photocoagulation and transscleral cryotherapy has been the mainstay of treatment, anti-VEGF therapy may be a valuable adjuvant for controlling exudative complications.