Eye Diseases - Von Hippel-Lindau syndrome (VHL)

Von Hippel-Lindau syndrome (VHL) is a rare autosomal dominant disease characterised by tumour susceptibility. Individuals with VHL may develop capillary haemangiomas of the retina, haemangioblastomas of the cerebellum or spinal cord, as well as renal and pancreatic cysts, neuroendocrine tumours of the pancreas, clear cell renal carcinoma, phaeochromocytoma, and epididymal tumours. By the age of 45, more than 85% of individuals with the genetic mutation will have some manifestation of the disease, i.e. it is highly penetrant.

Screening

Screening for at risk children should commence at an early age, from two years onwards. Annual assessment should include eye examination by an ophthalmologist, blood pressure assessment,  and plasma adrenaline levels. Imaging of the brain and spinal cord should commence at age 12.

Screening adults involves similar assessments. In addition imaging of the central nervous system should be done every two years. Annual imaging of the kidneys, adrenals, and pancreas is advised.

Genetic testing for at risk individuals in a family may be available if a mutation has been identified.

Treatment

Treatment for retinal tumours in VHL may involve laser, cryotherapy surgery, injections of Avastin into the vitreous cavity, or vitrectomy surgery. An eye doctor with experience in the management of this disease is recommended.