VHL Gene Deletion and Enhanced VEGF Gene Expression Detected in the Stromal Cells of Retinal Angioma

Abstract

VON HIPPEL-LINDAU (VHL) disease is a hereditary cancer syndrome in which affected individuals are at risk to develop tumors in multiple organs, including the eyes, cerebellum, spinal cord, kidneys, inner ear, adrenal glands, and pancreas.¹ Retinal angioma and cerebellar hemangioblastoma are the most common and frequently the earliest manifestations of VHL disease. Retinal angioma has been reported in nearly 60% of patients with VHL disease.² Although most VHL disease–associated tumors have been shown to have genetic alterations of the VHL gene, retinal angiomas have not been genetically studied.