Hemangioblast: origin of hemangioblastoma in von Hippel-Lindau (VHL) syndrome

von Hippel-Lindau (VHL) disease is a highly penetrant tumor predisposition syndrome in which retinal and central nervous system (CNS) hemangioblastoma is one of the major symptoms [1]. Retinal capillary hemangioblastoma (RCH) is a retinal benign tumor that represents the first manifestation in more than 50% of VHL patients. RCH accounts for significant visual loss in affected individuals with 25% of affected globes harboring visual acuity less than 20/160 [2]. Although VHL-associated RCH is believed to be secondary to abberant upregulation of hypoxia-inducible factors caused by VHL mutations, the mechanisms underlying the pathophysiology of RCH remain unclear. Lack of appropriate animal models of VHL-associated RCH hinders further investigation into RCH pathophysiology and the development of novel treatment strategies [3]