The gene responsible for retinoblastoma has been identified and studied in great detail. Approximately 40% of patients have the abnormal gene responsible for retinoblastoma.

There is now a test to detect this genetic defect. At the present time, the test is most accurate if the lab can study a specimen of tumor from the enucleated eye of the patient together with a blood sample. The test is technically more difficult when only blood specimens are available and it is more straightforward in patients who have bilateral retinoblastoma than in patients with unilateral retinoblastoma. If the patient has the genetic abnormality, then other members of the family may need to be screened or observed for development of the disease.

Genetic counseling is available and recommended for those individuals and families who seek information about genetic testing for retinoblastoma.  Please speak to your doctor about a referral.