bilateral optic nerve head hemangioma in von hippel lindau disease: report of a case with severe visual loss

[An optic nerve tumor in von Hippel-Lindau disease, masquerading as a retinal hemangioma].

CLINICAL CASE A 35-year-old man with a family history of von Hippel-Lindau disease was diagnosed to have two retinal hemangiomas in the right eye and another in the left eye. The hemangiomas were treated with cryotherapy and laser photocoagulation respectively. Despite apparent good resolution of the retinal lesions, progressive visual loss was observed. An MRI was then performed and showed bil...

Diagnosis of von Hippel-Lindau disease in a patient with blindness resulting from bilateral optic nerve hemangioblastomas.

Hemangioblastomas are uncommon tumors that occur mostly in the cerebellum, medulla, and spinal cord. Supratentonal hemangioblastomas are rare [i ], and hemangioblastomas of the optic nerve have, to our knowledge, been reported in only eight previous cases, all of which were unilateral [2, 3]. We report a case of bilateral optic nerve hemangioblastomas, in which the resultant visual loss was the...

Retinal capillary hemangioma in von Hippel-Lindau disease.

von Hippel-Lindau (VHL) disease is caused by a mutation in the VHL gene, resulting in the functional disorder in VHL-encoded protein (pVHL). Recent advances in experimental and clinical studies on VHL gene/protein and VHL disease have provided novel concepts in molecular pathology and clinical managements. pVHL plays a critical role in the regulation of hypoxia inducible factor (HIF)-dependent ...

Bilateral pheochromocytoma as first manifestation of von Hippel-Lindau disease: a case report.

Von Hippel-Lindau syndrome is an autosomal dominant disorder that includes susceptibility to hemangioblastomas of the eyes and central nervous system, renal clear cell carcinoma, multiple pancreatic cysts, serous cystadenomas and pancreatic neuroendocrine tumors, pheochromocytoma, endolymphatic sac tumors, and cystadenomas of the epididymis and broad ligament. We present a 16-year-old male who ...

Mosaicism in von Hippel-Lindau disease with severe renal manifestations.

von Hippel-Lindau (VHL) disease is an inheritable multisystem tumor syndrome characterized by multiple benign and malignant tumors affecting multiple organs. VHL is the result of a germline mutation in the VHL tumor suppressor gene. Molecular genomic analysis routinely confirms the clinical diagnosis. However, the use of molecular diagnostic methods can often be insufficient for the detection o...

Von Hippel-Lindau disease.