Symptoms and Causes

What are the symptoms of retinoblastoma?

Retinoblastoma symptoms tend to develop before age 2. The most common symptoms include:

  • leukocoria – the pupil of the eye appears white instead of the expected red when light shines into it. This effect is also often seen in photos that are taken with a flash. Rather than the typical “red eye,” the pupil may appear white or distorted. Leukocoria is the most common presenting symptom of retinoblastoma, but it is not required for a diagnosis.
  • strabismus (also called “wandering eye” or “crossed eyes”) – one or both eyes don’t appear to be looking in the same direction
  • nystagmus – involuntary movement of the eye(s)
  • poor vision or change in vision
  • (rarely) pain or redness around the eye(s)

Keep in mind that these symptoms can be caused by other conditions – for example, leukocoria and poor vision may be caused by a cataract – so it’s important to always see a specialist for a diagnosis.

What causes retinoblastoma?

Retinoblastoma is genetic, which means that it is caused by mutations in a gene. These mutations prevent the body from making certain proteins that when working control how cells grow. When these proteins are not made correctly, too many cells can build up in one place and form a tumor.

While all retinoblastoma is genetic, only a proportion are hereditary.

About 70 to 75 percent of cases are nonhereditary, meaning that the mutation develops in the child and is not passed on to future generations. This is known as “sporadic retinoblastoma,” and usually only one eye is affected. Children with nonhereditary retinoblastoma tend to develop tumors later, and they do not have an increased risk of other tumors.

About 25 to 30% cases or retinoblastoma are hereditary. These children tend to develop tumors at a younger age and are more likely to have tumors in both eyes. Children with hereditary retinoblastoma are also at higher risk of developing other tumors, including childhood tumors in the brain, or osteosarcoma (a tumor of the bone), soft tissue sarcomas, or melanomas later in life.

To determine whether the retinoblastoma is hereditary, all children with retinoblastoma seen at Dana-Farber/Boston Children’s are referred to the Pediatric Cancer Genetic Risk Program, a comprehensive program that provides genetic testing and counseling. If hereditary retinoblastoma is identified, further screening recommendations and an invitation to enroll in screening studies may be offered. We also can provide testing of other family members through this program.