Rev Bras Oftalmol.2009;68(4):241-244
The importance of the ophthalmological examination in von Hippel-Lindau disease
DOI: 10.1590/S0034-72802009000400010
Von Hippel-Lindau (VHL) disease is an autossomical, dominant inherited tumour syndrom. These tumours may include haemangioblastoma in the retina and central nervous system (CNS), renal cell carcinoma, phaeochromocytoma, islet cell tumours of the pancreas, cystadenoma in the kidney, pancreas, and epididymis. The most common symptoms include: loss of vision, raised intracranial pressure, neurological deficits, paroxysmal raised blood pressure and local pain. We report herein a 29-year-old man with visual loss and cerebellar haemangioblastoma that despite neurological manifestations the diagnosis of VHL was established after the ophthalmological examanination.
The importance of the ophthalmological examination in von Hippel-Lindau disease