Ophthalmic pathology of genotypically confirmed von Hippel Lindau disease type 1

4 Since then many other mutations have been identified. 2 VHL is characterised by capillary haemangioblastomas of the eye and central nervous system, visceral lesions including renal cell carcinoma and phaeochromocytoma, and visceral cysts. 1, 5- 8 VHL can be classified phenotypically into VHL 1 (no association with phaeochromocytoma) and VHL 2 (associated with phaeochromocytoma). According to the diagnostic guidelines, VHL could only be diagnosed 10 years after presentation.