Von Hippel-Lindau disease with ocular and multiple systemic findings.

Abstract

Von Hippel-Lindau is a rare genetic disease that is inherited as an autosomal dominant pattern. Characteristics of this disease include multiple vascularised tumours, particularly cerebellar, retinal and/or visceral. The disease can occur at any age with retinal haemangioblastomas as one of the earliest manifestations. The gold-standard investigation for cerebral haemangioblastomas is MRI or cerebral CT and for retinal haemangioblastomas is fluorescein angiography. We present the case of a woman in her late 30s who reported a primary concern of diminished vision in both eyes for the past 6 months. Fundus examination revealed blurred disc margins, optic nerve head haemangioblastomas and peripheral retinal haemangioblastomas in both eyes. Blood investigations showed polycythaemia. A 24-hour urine protein report showed increased levels. MRI showed multiple cystic lesions in the posterior fossa, on the right optic nerve in the optic canal, multiple cortical cysts in both kidneys and a soft tissue space-occupying lesion.