Retinoblastoma Health Article

Definition

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.

Alternative Names

Tumor - retina; Cancer - retina

Causes, incidence, and risk factors

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.

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.

Signs and tests

• 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)