Can Retinoblastoma Be Found Early?

Retinoblastoma is a rare cancer, and there are no widely recommended screening tests for retinoblastoma. (Screening is testing for a disease like cancer in people with no signs or 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
• 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 might notice that a young child’s eye doesn’t look normal, and it will prompt a visit to the doctor. It’s 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’s important to have it checked so that the cause can be found and treated right away, if needed.

For children at increased risk

For children in families known to carry an RB1 gene change (which causes heritable retinoblastoma), or in families with a history of retinoblastoma who have not had genetic testing for RB1 gene changes, doctors recommend regular, thorough eye exams during the first years of life to detect tumors at an early stage. These children might need an eye exam soon after birth, and then frequently during the first years of life.

The RB1 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. For example, children at risk because they have an RB1 gene change might need an eye exam every month or so during the first year, and then every few months until at least age 4 or 5.

Children with the heritable form of retinoblastoma usually develop tumors in both eyes (bilateral retinoblastoma). Most heritable retinoblastomas 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 (which includes a brain tumor such as a pineoblastoma). For more information, see Tests for Retinoblastoma.