[Retinal capillary angioma. Clinical and molecular genetic studies].
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.


METHODS
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 of 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 family 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 pheochromocytoma 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.


CONCLUSIONS
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, molecular genetic testing is a powerful tool for diagnosis and detection of asymptomatic gene-carriers.
Kreusel
K M
KM
Bornfeld
N
N
Bender
B U
BU
Neumann
L
L
Foerster
M H
MH
Neumann
H P
HP
D000293:Adolescent; D002648:Child; D002893:Chromosomes, Human, Pair 3; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D018324:Hemangioma, Capillary / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D019572:Retinal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D012307:Risk Factors; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics*