Retinoblastoma is a rare cancer that begins in the part of the eye called the retina. The retina is a thin layer of nerve tissue that coats the back of the eye and enables the eye to see. Most cases are unilateral (involving only one eye), but some may be bilateral (involving both eyes). If retinoblastoma spreads, it can spread to the lymph nodes, bones, or the bone marrow (the soft, spongy-like material found within large bones). Rarely, it involves the central nervous system (CNS; brain and spinal cord).

Children may be born with retinoblastoma, but the disease is rarely diagnosed at birth. Most children who begin treatment before the retinoblastoma has spread beyond the eye are cured. An important goal of treatment in children with retinoblastoma is preserving vision.

To learn about the cancer terms used in this section, read the Cancer.Net Feature: Cancer Terms to Know: Basic Oncology Terms.

Cancer survival statistics should be interpreted with caution. These estimates are based on data from thousands of cases of this type of cancer, but the actual risk for a particular individual may differ. It is not possible to tell a person how long he or she will live with retinoblastoma. Because the survival statistics are measured in five-year (or sometimes one-year) intervals, they may not represent advances made in the treatment or diagnosis of this cancer.

Statistics adapted from the American Cancer Society's publication, Cancer Facts and Figures 2008 and the National Cancer Institute.

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A risk factor is anything that increases a person’s chance of developing cancer. Some risk factors can be controlled, such as smoking, and some cannot be controlled, such as age and family history. Although risk factors can influence the development of cancer, most do not directly cause cancer. Some people with several risk factors never develop cancer, while others with no known risk factors do.

When retinoblastoma affects both eyes, it is always a genetic condition, even though only 10% to 15% of children with retinoblastoma have a family history of the disease. Rarely, the genetic form occurs in only one eye. The genetic form of the disease always occurs in very young children (rarely beyond one year old) and increases the child’s risk of developing another cancer later in life. About 60% of children with retinoblastoma do not have the genetic form. They develop a single tumor in only one eye, and there is no increased risk of additional tumors later in life.

Children who have had bilateral retinoblastoma or the hereditary form of unilateral retinoblastoma are at increased risk for developing other types of cancer; the risk of additional tumors is higher in those children who receive radiation therapy to the orbit (eye socket) to preserve vision or to other parts of the body where the tumor has spread.

Children with retinoblastoma often experience the following symptoms. Sometimes, children with retinoblastoma do not show any of these symptoms. Or, these symptoms may be caused by a medical condition that is not cancer. If you are concerned about a symptom on this list, please talk with your child’s doctor. Sometimes, a doctor finds retinoblastoma on a routine, well-baby examination. Most often, however, parents notice symptoms such as:

• A pupil that looks white or red, instead of the normal blackbr
  
  
• A crossed eye (looking either toward the ear or toward the nose)
  
  
• Poor vision
  
  
• A red, painful-looking eye
  
  
• An enlarged pupil
  
  
• Different-colored irises

Doctors use many tests to diagnose cancer and determine if it has metastasized (spread). Some tests may also determine which treatments may be the most effective. Although a biopsy is the only way to make a definitive diagnosis for most types of cancer, this is usually not possible in the case of retinoblastoma, and the doctor will suggest other ways to make a diagnosis. Imaging tests may be used to find out whether the cancer has metastasized. Your doctor may consider these factors when choosing a diagnostic test:

• Age and medical condition
  
  
• The type of cancer suspected
  
  
• Severity of symptoms
  
  
• Previous test results

The next step after observing any symptoms (see Symptoms) is to have the child examined by a specialist, who will do a thorough ophthalmic examination to check the retina for a tumor. Depending on the age of the child, either a local or general anesthetic is used during the eye examination.

The specialist will make a drawing or take a photograph of the tumor in the eye to provide a record for future examinations and treatment, and may use additional tests to detect or confirm a tumor.

If a newborn has a family history of retinoblastoma, the baby should be examined shortly after birth by an ophthalmologist (a medical doctor who specializes in eye care) who is experienced in treating cancers of the eye.

In addition to a physical examination, the following tests may be used to diagnose retinoblastoma:

Ultrasound. An ultrasound uses sound waves to create pictures of the internal organs. A transmitter that emits sound waves is moved over the child’s body. Tumors generate different echoes of the sound waves than normal tissue does, so when the waves are bounced back to a computer and changed into images, the doctor can locate masses inside the body. The procedure is painless.

Computed tomography (CT or CAT) scan. A CT scan creates a three-dimensional picture of the inside of the child’s body with an x-ray machine. A computer then combines these images into a detailed, cross-sectional view that shows any abnormalities or tumors. Sometimes, a contrast medium (a special dye) is injected into the child’s vein to provide better detail. A CT scan helps the doctor find cancer outside of the eye.

Magnetic resonance imaging (MRI). An MRI uses magnetic fields, not x-rays, to produce detailed images of the brain and spinal column. MRIs may create more detailed pictures than CT scans and provide the specialist with a picture of the inside of the eye and the brain.

MRI or CT scan of the brain. These tests may be recommended to determine if there is an abnormality of the pineal gland (a small gland in the brain). It is recommended that these scans be performed once every six months until the age of five in children with the genetic form of retinoblastoma (those with bilateral disease and those with unilateral disease with a family history of the disease). Very young children with a tumor in one eye who do not have a family history of the disease may also be at risk, and these tests may be recommended. Scans may also be recommended years after treatment for children who have received external-beam radiation therapy, either as a baseline in the event that problems arise, or to determine the cause of a symptom or sign.

Children who are diagnosed with retinoblastoma will be given a complete physical examination. If there are any additional symptoms or abnormal findings, children may also undergo additional tests to determine if the cancer has spread elsewhere in the body.

Blood tests. These tests evaluate the blood and check for problems with the liver and kidneys. The doctor may also look at the blood for changes in chromosome 13. Chromosomes are the part of the cell that contains genes, and in a few cases of retinoblastoma, these genes are either missing or nonfunctional. Molecular analysis of the gene is now possible in a few medical centers to determine changes that are not visible on ordinary chromosome analysis.

Lumbar puncture (spinal tap). A lumbar puncture is a procedure in which a doctor takes a sample of cerebral spinal fluid (CSF) to look for cancer cells, blood, or tumor markers (substances found in higher than normal amounts in the blood, urine, or body tissues of people with certain kinds of cancer.) CSF is the fluid that flows around the brain and the spinal cord. Doctors generally give an anesthetic to numb the lower back before the procedure.

Bone marrow biopsy/aspiration. This procedure is performed to determine if any retinoblastoma cells have spread to the marrow. For this test, a small amount of bone marrow is removed from the hip with a needle and examined under a microscope. A local anesthetic will be given to numb the area before the procedure.

Hearing test. Children with retinoblastoma taking certain chemotherapy (see Treatment) may have their hearing tested (called an audiology test) to make sure the drugs are not causing hearing loss.

To learn more about what to expect during common diagnostic tests, read Cancer.Net: Tests and Procedures.

To learn about the terms used in this section, read the Cancer.Net Feature: Cancer Terms to Know: Newly Diagnosed.

Staging is a way of describing a cancer, such as where it is located, if or where it has spread, and if it is affecting the functions of other organs in the body. Doctors use diagnostic tests to determine the cancer's stage, so staging may not be complete until all the tests are finished. Knowing the stage helps the doctor to decide what kind of treatment is best and can help predict a patient's prognosis (chance of recovery). There are different stage descriptions for different types of cancer.

After a retinoblastoma has been found, the doctor will determine the extent of disease in the eye and if the disease has spread outside the eye. This is called staging, and it helps doctors plan treatment. First, the doctor will determine if the retinoblastoma is intraocular or extraocular:

Intraocular. This means that cancer occurs in one or both eyes, but has not spread into surrounding tissues or other parts of the body.

Extraocular. The cancer has spread to tissues around the eye or to other parts of the body.

Several intraocular staging systems have been in use for many years to help doctors plan treatment. However, the recent success of clinical trials (research studies) demonstrating the effectiveness of chemotherapy in shrinking tumors has prompted the development of a newer staging system called the International Classification System.

International (ABC) Classification System

Group A:

• Small tumor(s) confined to the retina
  
  
• None larger than 3 millimeters (mm)
  
  
• None closer than 2 disc diameters (DD) from the fovea (central “pit” of the retina) or 1 DD from the optic nerve
  
  
• No vitreous seeding (tumor floating in the eye) or retinal detachment

Group B:

• Tumor(s) confined to the retina
  
  
• Any location in the retina
  
  
• No vitreous seeding
  
  
• No retinal detachment more than 5 mm from tumor base

Group C:

• Fine diffuse or localized vitreous seeding
  
  
• Retinal detachment: more than Group B and up to total retinal detachment
  
  
• No vitreous/subretinal “snowballs” or masses

Group D:

• Massive vitreous/subretinal seeding
  
  
• Vitreous or subretinal snowballs/masses
  
  
• Retinal detachment: more than Group B and up to total retinal detachment

Group E:

No visual potential, or:

Presence of one or more:

• Tumor in CB/anterior segment
  
  
• Neovascular glaucoma
  
  
• Vitreous hemorrhage (bleeding from the eye)
  
  
• Phthisical/prephthisical (deteriorating) eye
  
  
• Hyphema (blood in the anterior of the eye)/corneal staining
  
  
• Orbital cellulitis-like presentation
  
  
• Tumor anterior to anterior hyaloids

Clinical trials are the standard of care for the treatment of children with cancer. In fact, more than 60% of children with cancer are treated as part of a clinical trial. Clinical trials are research studies that compare the standard treatments (the best treatments available) with newer treatments that may be more effective. Cancer in children is rare, so it can be hard for doctors to plan treatments unless they know what has been most effective in other children. Investigating new treatments involves careful monitoring using scientific methods and all participants are followed closely to track progress.

To take advantage of these newer treatments, all children with cancer should be treated at a specialized cancer center. Doctors at these centers have extensive experience in treating children with cancer and have access to the latest research. Many times, a team of doctors treats a child with cancer, including pediatric, oncologic, and radiation specialists. Pediatric cancer centers often have extra support services for children and their families, such as nutritionists, social workers, and counselors. Special activities for children with cancer may also be available.

Several types of therapies are used for retinoblastoma, and more than 90% of children can be cured. In addition to cure, an important goal of therapy for retinoblastoma is the preservation of vision. Many of these treatment approaches have become available as a result of clinical trials. The Children’s Oncology Group has recently developed treatment clinical trials that include retinoblastoma.

Treatments for retinoblastoma include:

Surgery

Surgery to remove the eye is called enucleation. Children with a tumor in one eye only can often be cured with this treatment. In children with a tumor in both eyes, enucleation is used only if the ocular oncologist (a doctor who specializes in eye cancer) determines that preserving vision using other treatment is not possible. Surgical treatment for retinoblastoma should be performed by specially trained pediatric ophthalmologists.

If enucleation is the best treatment to cure the cancer, there will be some visual loss. This may result in trouble with depth perception, but most children adapt well to these differences.

Many people worry about what they will look like when they have an eye removed. The cosmetic surgery available today usually yields good cosmetic results. To fill the area left by the missing eye, the person is fitted for a prosthesis (artificial eye). The prosthesis will look and behave almost the same as a natural eye. For example, the artificial eye will move along with the person’s remaining eye, just not as much as a natural eye moves. Family members may be able to tell that the eye is not real, but it is unlikely that strangers will know. If enucleation is required, talk with your doctor about a prosthesis; it may take many weeks for patients to receive the prosthesis.

Radiation therapy

Radiation therapy uses high-energy x-rays or other particles to kill cancer cells. The most common type of radiation treatment is called external-beam radiation therapy, which is radiation therapy given from a machine outside the body. Radioactive plaque therapy, also called internal radiation therapy or brachytherapy, is the delivery of radiation therapy directly to the eye with a disc containing radiation.

Fatigue, drowsiness, nausea, vomiting, and headache are common temporary side effects of radiation therapy. Radiation therapy in young children can interfere with normal growth, including growth of the orbital bones (bones around the eye), depending on the dose. The increased risk of additional tumors later in life for children with the hereditary form of retinoblastoma is further increased following external-beam radiation therapy. These effects are not seen after radioactive plaque therapy.

Cryotherapy

Cryosurgery, also called cryotherapy or cryoablation, uses liquid nitrogen to freeze and kill cells. More than one freezing may be needed.

Laser therapy

Laser therapy uses heat in the form of a laser to shrink smaller tumors. It may be called thermotherapy (or TTT for transpupillary thermotherapy), and it may be used alone or in addition to cryotherapy or radiation therapy. Photocoagulation is a different type of laser therapy that uses light to shrink tumors.

Chemotherapy

Chemotherapy uses drugs to kill cancer cells, and may be used to shrink tumors in the eye. It is given by a pediatric oncologist and often makes it possible to completely eliminate any remaining smaller tumors with the following focal (localized) measures:

• Thermotherapy or photocoagulation (laser therapy)
  
  
• Cryotherapy
  
  
• Radioactive plaque therapy

Chemoreduction is a treatment approach that is often used in children with bilateral disease (in both eyes) in the hope of avoiding enucleation and preserving vision in at least one eye. The ophthalmologist, in consultation with the pediatric oncologist, will determine if this treatment is appropriate. Both doctors will monitor the response to treatment regularly and may recommend additional treatment to prevent the cancer from returning.

The drugs used most often are vincristine (Oncovin), carboplatin (Paraplatin), and etoposide (VePesid, Etopophos, Toposar). Depending on the extent of the tumor, a combination of two or more drugs will be recommended. All chemotherapy has side effects that occur during the period of treatment. Some drugs have the potential for specific long-term side effects. Talk with your doctor about the specific drugs used before treatment begins.

The medications used to treat cancer are continually being evaluated. Talking with your child’s doctor is often the best way to learn about the medications they've been prescribed, their purpose, and their potential side effects or interactions with other medications. Learn more about your child’s prescriptions through Cancer.Net's Drug Information Resources, which provides links to searchable drug databases.

Recurrent retinoblastoma

If retinoblastoma returns after treatment, the treatment plan depends on where the cancer recurred and how aggressive the new tumor is. The doctor may recommend surgery, radiation therapy, chemotherapy, and/or focal measures (photocoagulation, thermotherapy, or cryotherapy).

To learn about the terms used in this section, read the Cancer.Net Feature: Cancer Terms to Know: During Treatment.

Doctors and scientists are always looking for better ways to treat children with retinoblastoma. A clinical trial is a way to test a new treatment to prove that it is safe, effective, and possibly better than a standard treatment. People who participate in clinical trials are among the first to receive new treatments, such as new chemotherapy drugs, before they are widely available. However, there is no guarantee that the new treatment will be safe, effective, or better than a standard treatment.

People decide to participate in clinical trials for many reasons. For some people, a clinical trial is the best treatment option available. Because standard treatments are not perfect, people are often willing to face the added uncertainty of a clinical trial in the hope of a better result. Other people volunteer for clinical trials because they know that this is the only way to make progress in treating retinoblastoma, such as finding new drugs. Even if they do not benefit directly from the clinical trial, their participation may benefit future children with retinoblastoma.

To join a clinical trial, people must complete a learning process known as informed consent. During informed consent, the doctor should list all of the person’s options, so that the person understands the standard treatments and how the new treatment differs from the standard treatment. The doctor must also list all of the risks of the new treatment, which may or may not be different than the risks of standard treatment. Finally, the doctor must explain what will be required of each person in order to participate in the clinical trial, including the number of doctor visits, tests, and the schedule of treatment. Learn more about clinical trials, including patient safety, phases of a clinical trial, deciding to participate in a clinical trial, questions to ask the research team, and links to find cancer clinical trials.

Cancer and its treatment can cause a variety of side effects. However, doctors have made major strides in recent years in reducing pain, nausea and vomiting, and other physical side effects of cancer treatments. Many treatments used today are less intensive but as effective as treatments used in the past. Doctors also have many ways to provide relief to patients when such side effects do occur.

Fear of treatment side effects is common after a diagnosis of cancer, but it may be helpful to know that preventing and controlling side effects is a major focus of your health-care team. Before treatment begins, talk with your child’s doctor about possible side effects of the specific treatments you will be receiving. The specific side effects that can occur depend on a variety of factors, including the type of cancer, its location, the individual treatment plan (including the length and dosage of treatment), and the person’s overall health.

Ask your child’s doctor which side effects are most likely to happen (and which are not), when side effects are likely to occur, and how they will be addressed by the health-care team if they do happen. Also, be sure to communicate with the doctor about side effects your child experience during and after treatment. For more information on the most common side effects of cancer and different treatments, along with ways to prevent or control them, visit Cancer.Net’s section on Managing Side Effects, based on ASCO’s curriculum.

After treatment for retinoblastoma ends, talk with your child’s doctor about developing a follow-up care plan. This plan may include regular physical examinations and/or medical tests to monitor your child’s recovery for the coming months and years. All children treated for cancer, including retinoblastoma, should have life-long, follow-up care.

At first, follow-up visits will focus on ensuring the cancer is gone and hasn’t returned. Once a child has been free of retinoblastoma for two to four years following treatment, and is considered cured, the emphasis during periodic follow-up visits changes. Pediatric oncologists will focus on the quality of the child’s life, including developmental and emotional concerns.

Most young children adapt well to the loss of one eye if enucleation took place. Rarely, both eyes will require removal to save the child’s life. If both eyes are removed, the local educational system is required to provide special services. Parents are encouraged to investigate the school’s services and advocate on their child’s behalf. Other rehabilitation services may also be needed to help the child cope with the vision loss.

Based on the type of treatment the child received and whether the child has the genetic form of retinoblastoma, the doctor will determine what evaluations are needed to check for long-term effects. This may include imaging studies (CT scan or MRI) and blood tests. Counseling will also be provided in the case of children who have an increased risk of additional tumors later in life, such as those with retinoblastoma in both eyes and those with one eye affected and who have a family history of the disease. Annual visits to specialized ophthalmologic and medical oncologists are necessary in order to fully monitor the child’s recovery and to increase the probability that a second cancer will be detected in its earliest stages. Follow-up care should also address the child’s quality of life, including any developmental or emotional concerns. Learn more about Childhood Cancer Survivorship.

The child’s family is encouraged to organize and keep a record of the child’s medical information, so that as the child enters adulthood, he or she has a clear, written history of the diagnosis and details of the treatment given. The doctor’s office can help you compile this, and it should include recommendations from the doctor about the schedule for follow-up care. This information will be valuable to doctors who care for your child during his or her lifetime.

Children who have had cancer can also enhance the quality of their future by following established guidelines for good health into and through adulthood, including not smoking, maintaining a healthy weight, eating a balanced diet, and participating in regular physical activity.

To learn about the terms used in this section, read the Cancer.Net Feature: Cancer Terms to Know: After Treatment.

Research for retinoblastoma is ongoing. The following advances may still be under investigation in clinical trials and may not be approved or available at this time. The Children’s Oncology Group has recently opened clinical trials to seek answers to the questions listed below and for which some children with retinoblastoma may be eligible. Always discuss all diagnostic and treatment options with your child’s doctor.

• More intensive treatment with chemotherapy and radiation treatment to preserve vision in children with advanced disease in both eyes
  
  
• Ways to deliver chemotherapy to avoid radiation therapy and preserve vision
  
  
• Less intensive treatment with chemotherapy for small tumors
  
  
• Better ways of determining which children who have had enucleation require chemotherapy, and whether chemotherapy can prevent the spread of a tumor
  
  
• Aggressive treatment to cure children who have had a recurrence of retinoblastoma or when cancer has spread outside the eye

Regular communication with your child’s doctor is important in making informed decisions about his or her health care. Consider asking the following questions of your child’s doctor:

• Does my child have the genetic form of retinoblastoma?
  
  
• What is the stage of the disease? What does this mean?
  
  
• What are the treatment options?
  
  
• What clinical trials are open for my child?
  
  
• What treatment do you recommend? Why?
  
  
• What is the likelihood that the recommended treatment can save my child’s vision?
  
  
• If enucleation is needed, what support services are available to help my child adjust to the partial/total loss of vision?
  
  
• If enucleation is needed, how soon can my child receive a prosthesis (artificial eye)?
  
  
• If recommended, what can I expect chemotherapy to accomplish in the treatment of my child’s cancer?
  
  
• If recommended, what are the relative benefits and risks of radiation treatment in treating my child?
  
  
• What are the common side effects of each treatment, in the short term and long term?
  
  
• What follow-up tests will my child need, and when will they be needed?
  
  
• What support services are available to my child? To my family?

View all of Cancer.Net's Patient Information Resources.