Von Hippel-Lindau Disease
A rare autosomal dominant inherited disorder characterized by haemangiomatous cystic lesions.
Clinical Features
- Retina: Hemangiomatous cystic lesions (Retinal angiomas) Loss of vision/retinal detachment.
- Cerebellum: Hemangioblastomas Signs of cerebellar tumor (progressive ataxia, raised ICP).
- Visceral:
- Spinal cord hemangioblastomas.
- Cysts in kidney, liver, pancreas.
- Renal carcinoma and Pheochromocytoma are frequently associated.
Management
- Surgical: For cerebellar and visceral tumors.
- Photocoagulation/Cryocoagulation: For retinal angiomas.