Retinoblastoma

+ -Text Size

Early Detection, Diagnosis, and Staging TOPICS

Can retinoblastoma be found early?

Retinoblastoma is a rare cancer, and there are no widely recommended screening tests to look for retinoblastoma in children without symptoms. Still, many retinoblastomas are found early by parents, relatives, or a child’s doctor.

During children’s regular physical exams, doctors routinely check their eyes. Some of the things doctors look for include changes in how the eyes look (inside or outside), changes in how the eyes move, and changes in the child’s vision. Any of these might be a sign of retinoblastoma, although they are more often caused by something else.

Sometimes, a parent or relative may notice that a young child’s eye doesn’t look normal, prompting a visit to the doctor. It is important for parents to be aware of the possible signs and symptoms of retinoblastoma, and to report anything unusual to the doctor as soon as possible. Most often the cause is something other than retinoblastoma, but it is important to have it checked so that the cause can be found and treated right away, if needed.

For children in families known to carry an abnormal RB1 gene, or in families with a history of retinoblastoma who have not had genetic testing for the RB1 gene, doctors recommend regular eye exams during the first years of life to detect any tumors at an early stage. These children often have an eye exam a few days after birth, again at about 6 weeks of age, then every few months until at least age 5. This gene defect can be found by a special blood test, so most doctors now advise that children with parents or siblings with a history of retinoblastoma have this genetic test done during the first few weeks after birth. The results of the test then help define how often eye exams should be done.

Most cases of hereditary retinoblastoma develop and are diagnosed in infants only a few months old. Usually, if tumors develop in both eyes, it happens at the same time. But in some children, tumors develop in one eye first, then a few months (or even years) later in the other eye. So even if retinoblastoma is diagnosed in only one eye, these children will still need regular exams of the other eye for several years after treatment.

If a child has retinoblastoma that is thought to be hereditary, many doctors also recommend magnetic resonance imaging (MRI) scans of the brain at regular intervals for up to 5 years to check for a trilateral retinoblastoma (a brain tumor such as a pineoblastoma). For more information, see the section, “How is retinoblastoma diagnosed?


Last Medical Review: 12/05/2013
Last Revised: 12/05/2013