Von Hippel-Lindau Disease
- Autosomal dominant disorder marked by proliferation of tumors
- Caused by mutation in tumor suppressor gene on chromosome 3
- 80% familial, 20% sporadic
- Capillary hemangiomas of retina, cerebellum, and spinal cord, and...
- Renal cell carcinoma and pheochromocytoma, and...
- Pancreatic cysts
- Yellow mound in retinal periphery drained by large draining vein
- Found in over 60% of patients
- Most lesions have not bled and therefore do not cause symptoms
- Refer any patient with suspected von Hippel-Lindau disease to ophthalmologist to search for retinal lesions
- Some lesions will bleed and impair vision, so may need preventive treatment with...
- Laser photocoagulation, which destroys small lesions
- Cryotherapy applied to sclera, which destroys large lesions
- Patients with retinal hemangiomas have 25% chance of having other manifestations of von Hippel-Lindau disease
