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2016-24: Genotype-Phenotype Correlations, Treatment and Complications of Retinal Hemangioblastomas in Von Hippel-Lindau Disease

Medical retina
Molecular biology
Contract Research
Inclusion open since 1-9-2016

Von Hippel-Lindau Disease (VHL) is an autosomal dominantly inherited, multisystemic cancer syndrome and is caused by mutations in the VHL tumor suppressor gene. The disease occurs in 1 in 36,000 live births per year, and is highly penetrated, as 90% of the patients with a mutation the VHL gene develop disease-related symptoms. Patients with VHL are predisposed to develop central nervous system and retinal hemangioblastomas (RHs), renal cysts and carcinomas, pheochromocytomas, pancreatic tumors and cysts, endolymphatic sac tumors and cystadenomas of the epididymis and broad ligament. The frequency of occurrence of RHs varies from 49% to 85%, and are the first manifestation of VHL in 43% of patients. The aim of this study is to investigate the genotype-phenotype correlation of retinal hemangioblastomas of VHL patients, to evaluate treatment outcomes and complications and correlate them with the known VHL mutations of the patients.

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