THIRD EDITION
Factsheet
Condition:
Retinoblastoma
Inheritance:
Autosomal dominant
Genetic Etiology:
Rb gene mutation
Frequency:
Approximately 1/15,000
Clinical features:
Unilateral or bilateral retinoblastoma occurring during childhood; osteosarcoma beginning during adolescent years.
Management:
Symptomatic management and monitoring for tumors.
Genetic counseling:
Affected individuals at 50% risk of transmitting a gene mutation; both familial and de novo cases occur. Genetic testing is available.