Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation.

OBJECTIVES To examine the epidemiologic and clinical characteristics of the ocular manifestations of von Hippel-Lindau (VHL) disease and to detect phenotype-genotype relationships of disease severity. DESIGN A cross-sectional clinical and molecular genetic study. PATIENTS AND METHODS One hundred eighty-three affected VHL gene carriers from 81 unrelated… CONTINUE READING