Early Detection, Diagnosis, and Staging of Retinoblastoma

Learn about the signs and symptoms of retinoblastoma, the tests that may be done for it, and the outlook for those with a diagnosis.

Can retinoblastoma be found early?

Some retinoblastomas can be found early, before they start to cause any symptoms. In the United States, a test called the red reflex is recommended for all infants within the first 2 months of life and again at future well-child visits.

This test can be performed by a pediatrician, nurse, or eye specialist by shining a special light tool, called an ophthalmoscope, in the infant’s eyes. In most cases the light reflects red. However, in cases where a retinoblastoma tumor is present, the reflex may be dim or reflected differently in each eye. In some cases, the color may be reflected as white, which is called leukocoria.

An abnormal red reflex in a young child should be evaluated by an eye specialist, called an ophthalmologist, to find a cause.

For children at increased risk

For children who have a known RB1 gene change in their family, several methods may be used to help understand their risk of retinoblastoma and find it (and related brain tumors) early.

What are the signs and symptoms of retinoblastoma?

Most often, a parent or relative may notice a change in the eye, which prompts 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. During a doctor’s visit, a child’s eyes will be checked. This includes the red reflex test (described above) as well as looking for:

• Changes in how the eyes look or line up with each other
• 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.

How is retinoblastoma diagnosed?

Retinoblastoma is typically diagnosed by a detailed eye exam by an eye specialist, called an ophthalmologist. Most cancers are diagnosed with a biopsy, which involves collecting a sample of the tumor to look at under the microscope. But this is not the case in retinoblastoma. Biopsies of the eye are risky and may spread the tumor. An exam by a specialist is usually enough to make a diagnosis.

These exams are often done with medicine to dilate the eyes, which makes the pupil (the dark spot in the center of the eye) larger so that the doctor can see the retina in the back of the eye more easily. They are also often done while a child is asleep (exam under anesthesia, or EUA).

Other tests may be needed to check for spread (extent) of the tumor.

Stages, groups, and outlook for retinoblastoma

After a retinoblastoma diagnosis, many people want to understand what to expect. Doctors use information about a tumor’s size, location, and spread to assign a tumor stage or group. Doctors use staging systems to predict whether the child’s vision can be saved, which treatments will be effective, and the outlook for survival.

Stage or group is an important part of estimating a child’s outlook or prognosis and determining the right treatment plan.

Most children with retinoblastoma, especially those where the tumors are found early, can be cured of their disease. Survival rates are a way to measure how many people survive a certain type of cancer over time. Survival rates are often reported as 5-year survival rates, which refer to the percentage of children who live at least 5 years after their cancer is diagnosed. Of course, many children live much longer than 5 years and many are cured. Some people find this information helpful, while others prefer to focus more on the treatment plan and next steps.