Retinoblastoma occurs most often in children 5 years old and younger. It rarely occurs in adults. Between 200 and 300 children are diagnosed with retinoblastoma each year, affecting one in every 20,000 newborns. About 40 percent of all cases of retinoblastoma are inherited, meaning the cancer is passed on from parent to child. Retinoblastoma occurs about 75 percent of the time in one eye, and 25 percent of the time in both eyes.
Stages of retinoblastoma include:
Our eyes begin to develop very early in the womb. Rapidly growing cells in the eye, called retinoblasts, will eventually mature and form the retina. Sometimes, these specialized cells do not stop reproducing and form a tumor on the retina. These tumors might continue to grow, filling almost the entire vitreous humor (the jelly-like substances that fills the eyeball), but also break off and spread to other parts of the eye, and eventually outside to lymph nodes and other organs.
Symptoms of retinoblastoma include:
An eye exam and imaging test given by an ophthalmologist (an eye doctor) can diagnose the condition.
If retinoblastoma is suspected, the child is usually referred to an ophthalmologist with interest and expertise in this condition. The ophthalmologist will need to examine the eye using special equipment to see the retina. Other tests might be conducted to determine the stage of the retinoblastoma, or how far it has spread. These tests, often coordinated by a collaborating pediatric oncologist, may include ultrasound, MRI scans, CT scans, bone scans, spinal tap, and bone marrow tests.
Because it is usually found before it spreads outside of the sclera (white of the eye), retinoblastoma is highly curable, and there are many types of treatment that can also save eyesight. Treatments are selected based on the stage of cancer at the time of diagnosis. Options include:
Because heredity and age play such large roles in retinoblastoma, the best way to prevent vision loss is through early detection. All babies with a family history of retinoblastoma should have a general eye exam at birth and then again as directed by the consulting specialists. A doctor will be able to detect any serious congenital (present at birth) problems or the appearance of retinal tumors.
The chance that a parent with heritable (genetic) retinoblastoma will pass on to his or her child the DNA mutation that causes this cancer is 1 in 2. Sophisticated testing in some situations can be used to determine if this mutation is present.
For adults, prevention of avoidable vision loss is assisted by getting a thorough regular eye examination at least once a year, and more often — as recommended by your ophthalmologist — if you have a personal or family history of eye disorders or diabetes.
More than 90 percent of children will survive more than five years after being diagnosed with retinoblastoma. After eye-saving treatment, the amount of vision that is left in the affected eye is highly variable, depending on the size and location of the tumor(s).
Patients with hereditary forms of retinoblastoma are more likely to develop other cancers over time. Therefore, close follow-up after treatment is important for these patients.
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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or healthcare provider. Please consult your healthcare provider for advice about a specific medical condition. This document was last reviewed on: 03/19/2015