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.
(See also Overview of Childhood Cancer Overview of Childhood Cancer Cancer is rare among children. In 2021 in the United States, an estimated 10,500 children aged birth to 14 years will be diagnosed with cancer and slightly over 1,100 children will die of it... read more .)
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
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
Symptoms of retinoblastoma can include a white pupil (leukocoria) or cross-eyes ( strabismus Strabismus Strabismus is an intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. If untreated, strabismus can cause amblyopia ... read more ).
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.
The cancer can also be identified by ultrasonography of the eyes, CT Computed Tomography (CT) In computed tomography (CT), which used to be called computed axial tomography (CAT), an x-ray source and x-ray detector rotate around a person. In modern scanners, the x-ray detector usually... read more , or MRI Magnetic Resonance Imaging (MRI) In magnetic resonance imaging (MRI), a strong magnetic field and very high frequency radio waves are used to produce highly detailed images. MRI does not use x-rays and is usually very safe... read more . These tests also help determine whether the cancer has spread to the brain. Doctors may also do a spinal tap Spinal Tap Diagnostic procedures may be needed to confirm a diagnosis suggested by the medical history and neurologic examination. Electroencephalography (EEG) is a simple, painless procedure in which... read more (lumbar puncture) to look for cancer cells in a sample of cerebrospinal fluid. Finding cancer cells in this fluid is further evidence that the cancer has spread to the brain.
Because the cancer can spread to the bones or bone marrow, a bone scan Bone scanning A doctor can often diagnose a musculoskeletal disorder based on the history and the results of a physical examination. Laboratory tests, imaging tests, or other diagnostic procedures are sometimes... read more may be done and a sample of bone marrow may be removed Bone Marrow Examination Red blood cells, most white blood cells, and platelets are produced in the bone marrow, the soft fatty tissue inside bone cavities. Sometimes a sample of bone marrow must be examined to determine... read more for examination.
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.
Children with the hereditary type of retinoblastoma have an increased risk of developing a second cancer, such as soft-tissue sarcomas, melanomas Melanoma Melanoma is a skin cancer that begins in the pigment-producing cells of the skin (melanocytes). Melanomas can begin on normal skin or in existing moles. They may be irregular, flat or raised... read more , and osteosarcomas Osteosarcomas (osteogenic sarcoma) Tumors that originally start in the bone are called primary bone tumors. Primary bone tumors may be noncancerous (benign) or cancerous (malignant). After cancer is diagnosed, it is staged. Staging... read more . About half of second cancers occur where radiation therapy was given. About 70% of the time, the second cancer occurs within 30 years of the retinoblastoma.
Treatment of Retinoblastoma
Surgical removal of the eye
Radiation therapy, lasers, and cryotherapy
(See also Cancer Treatment Principles Cancer Treatment Principles Treating cancer is one of the most complex aspects of medical care. It involves a team that encompasses many types of doctors working together (for example, primary care doctors, gynecologists... read more and Surgery for Cancer Surgery for Cancer Surgery is a traditional form of cancer treatment. It is the most effective in eliminating most types of cancer before it has spread to lymph nodes or distant sites (metastasized). Surgery may... read more .)
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.
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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