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.
counseling is available and recommended for those individuals
and families who seek information about genetic testing for
speak to your doctor about a referral.
Did you Know?
is a cancer
is the most common eye cancer in children
is about as common as hemophilia
affects boys as commonly as girls
average age for diagnosis of retinoblastoma when one eye
is involved is 2.5 years
are 350 new cases of retinoblastoma per year in the U.S.
and about 5,000 worldwide
affects all races equally