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Retinoblastoma is a malignant tumor (cancer) of the retina (part of the eye) that generally affects children under the age of 6. It is most commonly diagnosed in children aged 1 - 2 years.

Retinoblastoma occurs when a cell of the growing retina develops a mutation, causing it 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 therefore 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. The eyes may appear crossed. The tumor can spread to the eye socket through the optic nerve. It may also spread to the brain, lungs, and bones. This is a rare tumor, except in families that carry the RB gene mutation.

• 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.

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

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.

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.

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

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.

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.

Tumor - retina; Cancer - retina

Chintagumpala M, Chevez-Barrios P, Paysse EA, Plon SE, Hurwitz R. Retinoblastoma: review of current management. Oncologist. 2007;12(10):1237-1246.

Melamud A, et al. Retinoblastoma. Am Fam Physician. 2006;73(6):1039-1044.

Updated by: James R. Mason, MD, Oncologist, Director, Blood and Marrow Transplantation Program and Stem Cell Processing Lab, Scripps Clinic, Torrey Pines, California. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.