A Case of von Hippel-Lindau Disease

Recently, we have experienced a case of von Hippel-Lindau's disease. The patient was a 16 years old Korean girl who visited to our hospital because of visual impairment in both eyes since childhood, mental retardation, dysarthria and gait disturbance. On the eye examination, visual acuity of both eyes were 0.04, incorrectable, funduscopy revealed optic atrophy and typical angiomatosis retinae in the right eye and optic atrophy associated with retinal detachment in the left eye. The cerebral angiography showed a space occupying mass in the left cerebellum. Thus this case was presented as a complete form of von Hippel-Lindau's disease, and a brief review of literatures was also discussed.