Von Hippel-Lindau syndrome is one of more than 7,000 known hereditary diseases. It is an autosomal dominant disease that affects approximately 10% of the population.1 The history of VHL dates back to 1864, when scattered reports of knots of blood vessels called hemangioblastomas on the retina surfaced and were written by ophthalmologists. Eugene Von Hippel, a German ophthalmologist, is credited with discovering the familial nature of the disease, but it was the Swedish pathologist Arvid Lindau who suggested that these hemangioblastomas were part of an "angiomatus [involving knots of blood vessels ] central nervous system injury. system." Additional reports from small affected families confirmed Lindau's theory. In 1964, Melmon and Rosen summarized all knowledge about the disease and coined the name "Von Hippel-Lindau". The invention of Ultrasound made detection easier in the late 1970s and by the mid-1980s, MRI was commonly used for detection of spinal angiomas. In 1993, the VHL gene was located by researchers at the National Cancer Institute. Patients with VHL suffer from tumors called angiomas (they are called hemangioblastomas when talking about the retina, brain or spinal cord and pheochromocytomas when talking about the adrenal glands) consisting of tiny knots of blood vessels. These angiomas can occur in the brain, spinal cord, retina, adrenal glands, kidneys, pancreas and very rarely in the epididymis in men and in the fallopian tubes in women. Based on these manifestations, scientists have identified two types of VHL: 1) without pheochromocytoma 2) with pheochromocytoma. VHL type 2 was further divided into two subcategories: 2a) without pancreatic cysts, 2b) with pancreatic cysts. VHL type 1 is the most common form of the disease. Scientists have also identified racial trends associated with VHL manifestations: French families are more likely to have pancreatic cysts, German families are more likely to have pheochromocytomas, and Japanese families are more likely to have tumors. renal2. When hemangioblastomas form in the retina, they start out very small and difficult to detect. They tend to develop around the equator of the retina (see Fig 1), away from the central vision area. A very thorough ophthalmological examination is necessary to detect retinal hemangioblastomastomas. Once discovered, there are two main treatment options: laser surgery or cryotherapy (freezing). The goal of these treatments is to prevent the growth of hemangioblastomas. Hemangioblastomas of the brain and spinal cord can be a little more dangerous. Early signs of a growth in these areas may include back pain, headaches, numbness, dizziness, and weakness or pain in the arms or legs...