Photocoagulation for retinal hemangioblastoma in Von Hippel-Lindau disease

Abstract

Introduction. Von Hippel?Lindau disease is a hereditary, autosomal dominant, tumor syndrome with a predisposition to developing various benign and malignant tumors. Retinal hemangioblastoma is often the presenting manifestation. We report a case of Von-Hippel?Lindau disease in a 13-year-old girl with bilateral eye involvement. Case outline. The patient was referred to the Eye Clinic, University Clinical Center of Serbia, with a diagnosis of Coats disease. Clinical examination revealed that best corrected visual acuity was 20/20 on her right eye, while her left eye showed counting fingers at 20 cm distance. Dilated fundoscopy of the right eye revealed multiple tortuous feeding vessels leading to orange-reddish, sharply demarcated multiple lesions on the far periphery of the upper retina, corresponding to retinal hemangioblastoma. the left eye showed edematous optic nerve head, tortuous retinal vessels, exudates, and retinal detachment including macula. Considering that the patient had multiple bilateral retinal hemangioblastomas and that her father had pathohistologically proven brain hemangioblastoma and numerous visceral tumors, Von Hippel?Lindau disease was assumed. Focal argon laser photocoagulation was performed in the region of all visible vascular tumors and feeding vessels in the right eye. The patient?s visual acuity remained unchanged five months after the disease detection. Conclusion. The importance of education about dominant inheritance pattern of Von Hippel?Lindau disease cannot be overemphasized. Role of an ophthalmologist is critical in early diagnosis of both retinal hemangioblastoma and Von Hippel?Lindau disease.