von Hippel-Lindau disease: a familial, often lethal, multi-system phakomatosis

A review of 36 cases of von Hippel-Lindau disease underscores the important role of the ophthalmologist in evaluating this phakomatosis. Retinal angiomatosis occurred in almost two-thirds of those affected, was usually diagnosed before other target organs, and frequently led to decreased visual acuity. Common non-ophthalmic manifestations included cerebellar (69%), medullary (11%) and spinal (8%) hemangioblastoma, renal cell carcinoma (22%), and polycythemia (17%). Pheochromocytoma was a les common association. The most common causes of death were cerebellar hemangioblastoma and renal cell carcinoma. For the surveillance of suspected von Hippel-Lindau victims, a detailed family history and retinal examination is recommended. Essential laboratory tests include a complete blood count and computed tomography of the head, upper cervical region, and abdomen. Periodic pre-symptomatic screening is imperative for follow-up investigation of affected individuals to determine possible additional occult manifestations and of non-affected family members at risk to von Hippel-Lindau disease.