Retinal Hemangioblastoma Revealing Von Hippel-Lindau Disease: Case Report

Case Report

Austin J Clin Ophthalmol. 2023; 10(6): 1160.

Retinal Hemangioblastoma Revealing Von Hippel-Lindau Disease: Case Report

Sofia Boussetta¹*; Jihane Ait Lhaj¹; Younes Hidan²; Adil Mchachi²; Leïla Benhmidoune²; Rachid Rayad²; El Belhadji Mohamed²

¹Resident Doctor, Department of Ophthalmology, 20 Aout 1953 Teaching Hospital, University Hospital Center Ibn Rochd, Casablanca, Morocco

²Associate Professor, Department of Ophthalmology, 20 Aout 1953 Teaching Hospital, University Hospital Venter Ibn Rochd, Casablanca, Morocco

*Corresponding author: Sofia Boussetta Resident Doctor, Department of Ophthalmology, 20 Aout 1953 Teaching Hospital, University Hospital Center Ibn Rochd, Casablanca, Morocco Email: salma_moataz@hotmail.fr

Received: June 02, 2023 Accepted: June 22, 2023 Published: June 29, 2023

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.

Keyword: Von hippel-lindau disease; Retina; Hemangioblastoma

Introduction

Von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome predisposing to various benign or malignant tumors: Central Nervous System (CNS) and ocular hemangioblastomas, Renal Cell Carcinoma (RCC) and/or renal cysts, pancreatic tumors and cysts, pheochromocytoma, and endolymphatic sac tumors The birth incidence is estimated to be 1 in 36,000 to 1 in 53,000.

We report the case of a patient with Von Hippel-Lindau disease revealed by a retinal hemangioblastoma.

Case Report

A 17 years old patient with no a family history of Von Hippel-Lindau disease presented with unilateral progressive decrease of visual acuity evolving for 6 months.

At examination, the visual acuity was counting fingers at 2 meters in the right eye and 10/10 in the left one, with no significant refractive error. Anterior segment examination was unremarkable and the intraocular pressure was 13 and 15mm Hg, respectively Ocular funduscopy of the right eye showed an orange elevetad tumor of 3 disc diameters with dilated feeding vessel and tortuous draining vein and significant macular edema with lipid exudates (Figure1)