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

ABSTRACT:

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 between genotype category and phenotypic features of ocular VHL disease, and to establish genotype-phenotype correlations between genotype category and visual function.

Methods

Cross-sectional and molecular genetic study. Of 890 patients with VHL disease, 335 had ocular involvement in the form of RCHs. Statistical analysis was used to correlate the structure of the mutated VHL protein w

SUBMITTER: Wong WT 

PROVIDER: S-EPMC3019103 | biostudies-literature | 2007 Feb

REPOSITORIES: biostudies-literature