Clinical characterization of retinal capillary hemangioblastomas in a large population of patients with von Hippel-Lindau disease.

ABSTRACT:

Objective

To report the epidemiology and ocular phenotype of retinal capillary hemangioblastomas associated with von Hippel-Lindau (VHL) disease in a large cohort of patients and to correlate patient and ocular characteristics to visual morbidity in this population.

Design

Cross-sectional study.

Participants

In 220 unrelated pedigrees, 335 patients affected with VHL disease and retinal capillary hemangioblastomas (RCHs) in at least 1 eye.

Methods

Demographics of the patient population were recorded and the ocular phenotype of each patient was obtained with a comprehensive ocular examination.

Main outcome measures

The patient population was characterized and the ocular phenotype described in relationship to tumor location, number, and extent of retinal in

SUBMITTER: Wong WT 

PROVIDER: S-EPMC3026779 | biostudies-literature | 2008 Jan

REPOSITORIES: biostudies-literature