Solitary retinal capillary hemangioma: lack of genetic evidence for von Hippel-Lindau disease.
OBJECTIVE
To report the results of genetic testing for von Hippel-Lindau (VHL) disease in patients presenting with solitary retinal capillary hemangioma (RCH).


METHODS
Ten patients with solitary RCH, who were excluded clinically as having VHL disease, underwent genetic testing using a combination of Southern blot, conformation sensitive gel electrophoresis, and direct sequence analysis. The results of the genetic tests were used to refine the empiric risk for VHL disease using principles of probability.


RESULTS
Genetic testing for VHL disease was negative for mutation in all patients. The negative results of the genetic tests diminished the empiric risk for VHL disease by 100-fold.


CONCLUSIONS
Solitary RCH can occur sporadically or be associated with VHL disease. In addition to clinical evaluation, genetic testing should be considered to exclude VHL disease with a high level of certainty.
Singh
Arun D
AD
Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA 19107, USA. arunsingh@eyetumors.com
Ahmad
Nina N
NN
Shields
Carol L
CL
Shields
Jerry A
JA
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D015139:Blotting, Southern; D002648:Child; D002675:Child, Preschool; D018324:Hemangioma, Capillary / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D019572:Retinal Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology; D012307:Risk Factors; D006623:von Hippel-Lindau Disease / Q000209:etiology / Q000235:genetics*