title: von Hippel-Lindau disease: a familial, often lethal, multi-system phakomatosis.
abstract: 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.
mesh_terms: D000230:Adenocarcinoma / Q000175:diagnosis; D000293:Adolescent; D000328:Adult; D000368:Aged; D000798:Angiomatosis / Q000175:diagnosis*; D002528:Cerebellar Neoplasms / Q000175:diagnosis; D005134:Eye Neoplasms / Q000175:diagnosis*; D005260:Female; D006394:Hemangiosarcoma / Q000175:diagnosis; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012161:Retinal Artery; D012164:Retinal Diseases / Q000175:diagnosis; D014057:Tomography, X-Ray Computed; D006623:von Hippel-Lindau Disease / Q000175:diagnosis* / Q000235:genetics