Retinoblastoma

Definition

Retinoblastoma is a malignant tumor (cancer) of the retina (part of the eye) that generally affects children under the age of 6.

Alternative Names

Causes

Retinoblastoma occurs when a cell of the growing retina develops a mutation in the RB gene (a tumor-suppressor gene). This mutation causes the cell to grow out of control and become cancerous.

Sometimes this mutation develops in a child whose family has never had eye cancer, but other times the mutation is present in several family members. If the mutation runs in the family, there is a 50% chance that an affected person's children will also have the mutation. They will therefor have a high risk of developing retinoblastoma themselves.

One or both eyes may be affected. A visible whiteness in the pupil may be present. Blindness can occur in the affected eye, and the eyes may appear crossed. The tumor can spread to the eye socket, and to the brain, through the optic nerve. This is a rare tumor, except in families that carry the RB gene mutation.

Symptoms

• A white glow in the eye that is often seen in photographs taken with a flash; instead of the typical "red eye" from the flash, the pupil may appear white or distorted.
• White spots in the pupil
• Crossed eyes
• A red, painful eye
• Poor vision
• The iris may be a different color in each eye.

Exams and Tests

• An examination of the eye with dilation of the pupil
• A CT or MRI study of the head to evaluate tumor and possible spread
• An ultrasound of the eye (head and eye echoencephalogram)

Treatment

Treatment options depend upon the size and location of the tumor. Small tumors may be treated by laser surgery. Radiation and chemotherapy may be needed if the tumor has spread beyond the eye.

The eye may need to be removed if the tumor does not respond to other treatments. It is important to seek treatment from a physician with experience treating this rare type of tumor.

Outlook (Prognosis)

If the cancer has not spread beyond the eye, almost all patients can be cured. A cure, however, may require aggressive treatment and even removal of the eye in order to be successful. If the cancer has spread beyond the eye, the likelihood of a cure is lower and depends on how the tumor has spread.

Possible Complications

Spread of the tumor to the brain or other locations can occur.

When to Contact a Medical Professional

Call your health care provider if signs or symptoms of retinoblastoma are present, especially if your child's eyes look abnormal or appear abnormal in photographs.

Prevention

Genetic counseling can help families understand the risk of retinoblastoma. It is especially important when more than one family member has had the disease, or if the retinoblastoma occurs in both eyes.