Solitary retinal capillary hemangioma: hereditary (von Hippel-Lindau disease) or nonhereditary?
OBJECTIVE
To estimate the probability of von Hippel-Lindau (VHL) disease in patients with solitary retinal capillary hemangioma.


METHODS
Risk estimation was performed mathematically on the basis of the Bayes theorem using the published data on prevalence of VHL disease, prevalence of solitary retinal capillary hemangioma, and age-dependent penetrance of VHL disease.


RESULTS
The probability of VHL disease in patients with solitary retinal capillary hemangioma was estimated to be 46%. When adjusted for age at the time of diagnosis, the risk varied from 45% in the young age group (</=10 years) to 0.5% in the older age group (61-70 years).


CONCLUSIONS
Approximately half of the patients with solitary retinal capillary hemangioma are expected to have underlying VHL disease and the risk progressively diminishes with increasing age at diagnosis. Detailed clinical evaluation in such patients is recommended using standard screening protocols. Knowledge of the age-dependent risk for VHL disease can help the clinician modify recommendations regarding systemic and genetic testing.
Singh
A
A
Oncology Service, Wills Eye Hospital, 900 Walnut St, Philadelphia, PA 19107, USA. arunsingh@eyetumors.com
Shields
J
J
Shields
C
C
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D001499:Bayes Theorem; D002648:Child; D002675:Child, Preschool; D018324:Hemangioma, Capillary / Q000150:complications* / Q000473:pathology; D006801:Humans; D007223:Infant; D008875:Middle Aged; D015995:Prevalence; D011336:Probability; D019572:Retinal Neoplasms / Q000150:complications* / Q000473:pathology; D012307:Risk Factors; D006623:von Hippel-Lindau Disease / Q000453:epidemiology / Q000209:etiology*