Clinical and genetic screening in patients with capillary retinal angioma

Capillary retinal angiomas are rare vascular tumors that frequently occur in von Hippel-Lindau syndrome (vHL) but may also be sporadic. in all patients presenting with this tumor a thorough search for other vHL-associated lesions must be performed. After identification of the vHL gene on the short arm of chromosome 3 (3p25-26), the diagnosis is supported by molecular genetic analysis. Patients: In 20 patients with retinal angioma a clinical search for other manifestations of vHL was performed. in 5 patients only one angioma was present. in all patients molecular genetic tests for a mutation elf the vHL gene were performed by SSCP and direct sequencing. Results: In 16 (80 %) patients vHL was present, and in 15 it could be diagnosed by clinical findings or a positive familiy history. Organ lesions in vHL patients were CNS hemangioblastoma in 10 (63 %), pancreatic cysts in 7 (43 %) and renal cysts in 7 (43 %) patients. In two patients (13 %) renal carcinoma could be detected; in one patient a pheochromcytoma was present. A mutation could be detected in all 15 patients with clinically confirmed VHL. in three patients a new mutation of vHL disease was diagnosed genetically. In one of these patients a single retinal angioma was the only sign of vHL. Conclusion: In patients presenting with capillary retinal angioma a careful search for other vHL lesions has to be performed. A mutation of the vHL gene can be detected in the majority of patients; thus, moleculargenetic testing is a powerful tool for diagnosis and detection of asymptomatic gene-carriers.