Retinal capillary hemangioblastoma associated with retinochoroidal coloboma in Von Hippel-Lindau disease

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 ...

Genetic Mechanisms of Tumourigenesis in von Hippel-Lindau-Associated Tumours with the Emphasis on Capillary Hemangioblastoma

Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.

PURPOSE To assess the natural history of retinal manifestations in von Hippel-Lindau (VHL) disease and to study the genotype-phenotype correlation. METHODS Data concerning 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations were extracted from the French VHL database. A retrospective study was performed by questionnaire. Patients were classified in...

Hemangioblastoma of the filum terminale associated with von Hippel-Lindau disease: a case report.

We report a 41-year-old man who presented with low back pain, lower extremity paresthesia, urinary retention and constipation. Magnetic resonance imaging showed a vascular intradural-extramedullary lesion at the second lumbar vertebral level. His medical history revealed that he had undergone surgery for a cerebellar hemangioblastoma 5 years ago. The patient underwent a spinal operation and a v...

Von Hippel-Lindau disease.