We have been caring for this patient and his family with Von Hippel-Lindau (VHL) disease for over 20 years.
We initially treated the retinal capillary hemangioma in his left eye with cryotherapy. Although the tumor initially regressed, thermal laser photocoagulation was applied due to some new exudation. The exudation eventually resolved. A few smaller involuted angiomas are well-visualized in his most recent photo.
Our patient had a partial nephrectomy for renal cell carcinoma, and his mother died 2 years ago from renal cell carcinoma. His sister required enucleation of her right eye as a teenager for a total exudative detachment.
Learning Points:
Retinal capillary hemangioma is a predominant feature of VHL, an autosomal dominant condition caused by mutations in the VHL tumor suppressor gene. Patients develop benign and malignant tumors, including central nervous system hemangioblastoma, pheochromocytoma, and renal cell carcinoma.
Retinal capillary hemangiomas are orange-red lesions associated with prominent paired feeding and draining vessels and can cause severe vision loss or blindness due to exudative retinal detachment. These benign vascular tumors need to be aggressively treated. Common treatment options include thermal laser, cryotherapy, and anti-VEGF injections.
