Retinoblastoma is the most common of the eye cancers occurring in children. It is a malignant tumor of the retina, the innermost, sensory layer of the eye. It generally affects children under the age of 6 and most commonly diagnosed in children between 1 and 2 years old. It is a rare cancer, except in families that carry the retinoblastoma gene mutation.

Retinoblastoma is caused by a mutated cell that grows uncontrollably and becomes cancerous. A child who is from a family with eye mutations will have a 50% chance of having the mutation themselves. However, sometimes this cancer develops in a child without a family history of eye cancer. It may affect one or both eyes, and the tumor may spread to the eye socket, brain, lungs and bones.

Symptoms of retinoblastoma are 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, a white or distorted pupil, white spots in the pupil, crossed eyes, a red and painful eye, poor vision and a different colored iris in each eye.

In order to diagnose retinoblastoma, an examination of the eye with dilation of the pupil is performed, as well as a CT scan or MRI of the head to evaluate the tumor and possible spreading, and an ultrasound of the eye.

If the cancer has not spread beyond the eye, almost all patients can be cured. However, if it has spread, the likelihood of a cure is decreased. This also depends on how far the cancer has spread.

Treatment options depend on the size and spreading of the tumor. Small tumors are usually treated by laser surgery. If the tumor has spread beyond the eye radiation and chemotherapy are used. If the tumor does not respond to treatments, it may be necessary to remove the eye.

Genetic counseling can help families understand the risk of retinoblastoma and could lead to prevention. It is very important to seek counseling when more than one family has the disease, or if retinoblastoma occurs in both eyes.