A patient with a retinal cavernous hemangioma and respiratory symptoms consistent with VHL—what syndrome is suspected?

A patient with a retinal cavernous hemangioma and respiratory symptoms consistent with VHL—what syndrome is suspected?

• A. Capillary hemangioma
• B. Von Hippel-Lindau disease
• C. Lymphangioma
• D. Progenic Granuloma

Answer: (B)

Retinal cavernous hemangioma is a classic ocular manifestation of Von Hippel-Lindau disease, a hereditary tumor syndrome characterized by vascular tumors in multiple organs, including the retina and the central nervous system, and can involve the lungs with cystic or nodular lesions, along with other tumors such as pheochromocytomas and renal cell carcinomas. When you see a retinal cavernous hemangioma in a patient with systemic or respiratory findings fitting VHL, the syndrome suspected is Von Hippel-Lindau disease. Other listed lesions are benign entities not associated with this multisystem familial syndrome.

Retinal cavernous hemangioma is a classic ocular manifestation of Von Hippel-Lindau disease, a hereditary tumor syndrome characterized by vascular tumors in multiple organs, including the retina and the central nervous system, and can involve the lungs with cystic or nodular lesions, along with other tumors such as pheochromocytomas and renal cell carcinomas. When you see a retinal cavernous hemangioma in a patient with systemic or respiratory findings fitting VHL, the syndrome suspected is Von Hippel-Lindau disease. Other listed lesions are benign entities not associated with this multisystem familial syndrome.