Abstract
Von Hippel–Lindau disease (VHL), also known as Von Hippel–Lindau syndrome, is a rare genetic disorder with multisystem involvement. It is characterised by the development of multiple vascularised tumours, particularly cerebellar, retinal and/or visceral. The disease can occur at any age and usually starts with retinal hemangioblastomas We report the case of A 17 years old patient with VHL family history who presented with progressive unilateral decrease of visual acuity evolving for 6 months. The fundus examination showed a retinal examination with significant edema. The fluorescein angiography confirmed the diagnosis. The Brain MRI and the abdominal CT scan were normal. The patient had to undergo photocoagulation of the retinal lesions Management of patients with VHL disease often requires a multidisciplinary approach. The role of the ophthalmologist is important in the management of this condition since the ocular involvement may be indicative of the disease.
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