Genotype-Phenotype Correlation in von Hippel-Lindau Disease With Retinal Angiomatosis

Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis.

OBJECTIVES To characterize the germline mutations found in a large population of persons having von Hippel-Lindau (VHL) disease mutations with the clinical characteristics of associated retinal capillary hemangioblastomas (RCHs), to measure the prevalence of RCHs among patients with VHL disease generally and specifically for each genotype category, to establish genotype-phenotype correlations b...

Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients

von Hippel-Lindau (VHL) disease is caused by mutations in the VHL gene and demonstrates marked phenotypic variability. Genotype-phenotype correlations in Chinese VHL patients have been unclear. To establish genotype-phenotype correlations in Chinese VHL patients, we collected VHL mutations and phenotypes of 291 patients with VHL disease from 115 unrelated families. Genotype-phenotype correlatio...

Long-term results of laser treatment for retinal angiomatosis in von Hippel-Lindau disease.

PURPOSE In von Hippel-Lindau disease (VHL), retinal detachment is often a real threat if the retinal angiomas are left untreated. The aim of this trial was to diagnose and treat capillary angiomas early at an asymptomatic stage. METHODS Since 1983, we have investigated patients with key lesions and those who are at risk for VHL in a multidisciplinary study. Classical retinal angiomas and micr...

Von Hippel-Lindau disease.

Von Hippel-Lindau Disease

A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas. Most VHL patients die from the consequences of cerebellar haemangioblastoma or renal cell carcinoma. The VHL gene is a tumour suppressor gene and is involved in angiogenesis by regulation of the activ...