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Retinoblastoma

By

Renee Gresh

, DO, Nemours A.I. duPont Hospital for Children

Last full review/revision Jun 2021| Content last modified Jun 2021
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Retinoblastoma is a cancer of the retina, the light-sensing area at the back of the eye.

  • Retinoblastomas result from a genetic mutation.

  • The child may have a white pupil or cross-eyes or occasionally vision problems.

  • Doctors can often diagnose retinoblastoma by looking into the eye with a special instrument while the child is under anesthesia.

  • Treatment may involve surgery, chemotherapy, or sometimes radiation therapy.

Retinoblastomas represent about 2% of childhood cancers and almost always occur before 2 years of age. They occur in both eyes at the same time in about 25% of children.

This cancer results from a mutation in certain genes that control eye development. Sometimes, the mutation is inherited from a parent. At other times, it occurs spontaneously (not inherited) very early during development of the embryo.

When the mutation is inherited, affected children may pass the mutation on to their children. There is a 50% chance that the mutation will be passed on if one parent has the mutation. If the mutation is passed on, most of the offspring will develop retinoblastoma. Retinoblastoma is hereditary in all children with cancer in both eyes and in 15% of children with cancer in one eye.

At other times, the mutation does not occur until later in embryonic development and only in the embryo’s eye cells. In such cases, the mutation cannot be passed on to offspring.

Viewing the Retina

Viewing the Retina

Retinoblastoma does not usually spread beyond the eye, but it occasionally spreads to the brain along the optic nerve (the nerve that leads from the eye to the brain). It may rarely spread to other locations, such as the bone marrow and bones.

Symptoms of Retinoblastoma

Large retinoblastomas may affect vision but tend to cause few other symptoms. If the cancer has spread, symptoms may include headache, loss of appetite, or vomiting.

Diagnosis of Retinoblastoma

  • Looking into the eye with a special instrument while the child is under anesthesia

  • Ultrasonography of the eyes, computed tomography (CT), or magnetic resonance imaging (MRI)

  • Sometimes a bone scan, examination of bone marrow, and spinal tap

If a doctor suspects a retinoblastoma, the child is given a general anesthetic General anesthesia Surgery is the term traditionally used to describe procedures (called surgical procedures) that involve manually cutting or stitching tissue to treat diseases, injuries, or deformities. However... read more , which makes the child lose consciousness, and both eyes are examined. A light and a special lens (indirect ophthalmoscopy) are used to look through the lens and iris at the retina. A general anesthetic is necessary because small children are not able to cooperate during the careful, time-consuming examination required to diagnose retinoblastoma.

Children who have retinoblastoma should see a genetic specialist and have genetic testing. The specialist can then advise parents whether other family members are at risk and whether any other tests should be done. Typically, if children have a hereditary retinoblastoma gene, their parents and brothers and sisters should also be tested for the mutated gene. Siblings with the mutated gene should have their eyes examined for retinoblastoma every 4 months until they are 4 years old. If genetic testing is not available, all children who have a parent or sibling who had retinoblastoma should have such eye examinations beginning at birth and continuing until they are 4 years old. Even adult family members of a child with retinoblastoma need to have an eye examination. Even though adults will not develop retinoblastoma, the gene that causes retinoblastoma can also cause a noncancerous (benign) eye tumor called retinocytoma.

Prognosis for Retinoblastoma

Without treatment, most children with retinoblastoma die within 2 years. However, with treatment, children with retinoblastoma that has not spread past the retina are cured more than 90% of the time. The prognosis is poor for children whose cancer has spread.

Treatment of Retinoblastoma

  • Surgical removal of the eye

  • Chemotherapy

  • Radiation therapy, lasers, and cryotherapy

When only one eye is affected and that eye has little or no vision, doctors usually remove the entire eyeball along with part of the optic nerve.

When the cancer affects both eyes, doctors try to preserve some vision by treating the cancer without removing both eyeballs, although they sometimes remove the most severely affected eye. Treatment options include chemotherapy drugs injected directly through the main artery that provides blood to the eye (called intra-arterial chemotherapy), radiation therapy Radiation Therapy for Cancer Radiation is a form of intense energy generated by a radioactive substance, such as cobalt, or by specialized equipment, such as an atomic particle (linear) accelerator. Radiation preferentially... read more , lasers, freezing (cryotherapy), or patches containing radioactive material (brachytherapy).

Combinations of chemotherapy drugs Chemotherapy Chemotherapy involves the use of drugs to destroy cancer cells. Although an ideal drug would destroy cancer cells without harming normal cells, most drugs are not that selective. Instead, drugs... read more given by mouth or vein (such as carboplatin, etoposide, and vincristine, or cyclophosphamide plus vincristine) may be used to shrink a large tumor in one eye, shrink tumors that are in both eyes, treat cancer that has spread beyond the eye, or treat cancer that returns after initial treatment.

Radiation therapy to the eye has serious consequences, such as cataracts, decreased vision, chronic dry eye, and wasting of the tissue around the eye. The bones of the face may not grow normally, resulting in a deformed appearance. Additionally, the risk of a developing a second cancer increases in the area where radiation is done.

After treatment, a doctor who specializes in treating cancer in children (pediatric oncologist) and an ophthalmologist should continue to monitor the child because of the risk of a second cancer developing.

More Information

The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.

  • American Cancer Society: If Your Child Is Diagnosed With Cancer: A resource for parents and loved ones of a child who has cancer that provides information about how to cope with some of the problems and questions that come up just after a child is diagnosed

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