Phthisis bulbi and retinal capillary haemangioma associated with papilloedema due to recurrent bilateral cerebellar haemangioblastomas – A case of Von Hippel Lindau syndrome

Abstract

Von Hippel Lindau (VHL) syndrome is an autosomal dominant condition caused by mutation of VHL gene. It is characterized by vascular tumors of eye, central nervous system, visceral cysts and tumors. Here we report a case of VHL in a young male patient who presented with phthisis bulbi in the right eye and retinal capillary haemangioma in the left eye. Systemic features of raised intracranial pressure was present along with bilateral abduction deficit and florid disc edema in the left eye. There was a polypoidal reddish mass in the inferotemporal quadrant, with a dilated draining vein, indicating retinal capillary hemangioma. The phthisical right eye was speculated to result from untreated retinal capillary hemangioma, culminating in exudative retinal detachment. Urinary Vanillyl Mandelic Acid suggested pheochromocytoma. Imaging modalities revealed multiple cerebellar hemangioblastomas, pheochromocytoma and pancreatic cysts. Screening of family members revealed no evidence of systemic manifestations, suggesting the possibility of sporadic mutation. Retinal capillary hemangioma is the commonest and earliest manifestation of VHL. The ocular complications include intraretinal exudation and exudative retinal detachment, secondary angiomatosis, epiretinal membrane, vitreous hemorrhage, retinal neovascularization, tractional retinal detachment and macular ectopia. Our case report emphasizes that retinal examination in patients with suspected VHL is not only a screening tool for the presence of capillary hemangioma but also for regular monitoring and prevention of vision threatening complications. Keywords: Von Hippel Lindau (VHL) syndrome, Retinal capillary hemangioma, Cerebellar hemangioblastomas, Pheochromocytoma.