KidsMD Health Topics

Retinoblastoma

  • Few things are as scary as learning that your child has a tumor in his eye, but treatment has improved dramatically in recent years, and so have your child’s chances for a successful recovery. Retinoblastoma—a tumor in the retina (nerve tissue that covers the inside of the back of the eye)—is now cured more than 90% of the time.

    • Retinoblastoma usually occurs in children younger than 5.
    • The tumor(s) may be present in one or both eyes, and rarely spread to other parts of the body.
    • Retinoblastoma may be inherited or the result of a spontaneous gene mutation.
    • Treatments include radiation, cryotherapy, thermotherapy, chemotherapy and enucleation (surgery to remove the eye, only performed as a last result when the health of the child would be in serious jeopardy otherwise).                                       

    How Dana-Farber Cancer Institute/Children’s Hospital Boston approaches retinoblastoma

    The Dana-Farber/Boston Children’s Cancer and Blood Disorders Center is an integrated pediatric oncology program that provides all the services of both a leading cancer center and a pediatric hospital. This team approach ensures that your child's treatment plan is carefully developed and coordinated. We integrate expertise from the following specialists:

    • pediatric oncologists, surgical oncologists and radiation oncologists
    • pediatric experts from every medical subspecialty, such as ophthalmology and radiology
    • highly skilled and experienced pediatric oncology nurses
    • psycho-oncologists, resource and education specialists, financial coordinators, Child Life specialists, pharmacists and many others to help manage children¹s physical, emotional and everyday needs
    • unique programs like Home Visits, an outreach program that helps families adjust to life after diagnosis

    Reviewed by Carlos Rodriguez-Galindo, MD
    © Boston Children’s Hospital; 2011

    Dana-Farber/Boston Children’s Cancer and Blood Disorders Center

    44 Binney Street, 3rd Floor
    Boston MA 02115 

    888-PEDI-ONC

  • We understand that you may have a lot of questions when your child is diagnosed with retinoblastoma, including:

    • What is it?
    • What can we do about it?
    • How will it affect my child long-term?

    We’ve provided some answers to these questions here, and when you meet with our experts, we can talk with you more about your child’s diagnosis and treatment.

    What is retinoblastoma? 

    Retinoblastoma is a cancerous tumor in the retina (nerve tissue lining the inside of the back part of the eye).

    How common is retinoblastoma?

    Retinoblastoma is pretty rare—about 300 children in the United States are diagnosed each year. Kids with retinoblastoma are mostly under 5, and the majority of cases occur before the child turns 2. It’s equally common in boys and girls.  

    Will both of my child’s eyes be affected?

    It’s not likely—between 70 and 75 percent of the time, only one eye is affected (unilateral). This type of retinoblastoma usually isn’t inherited, but when it is, there’s a chance that it may develop later in the other eye. That’s why children who have been diagnosed with retinoblastoma in one eye should have follow-up exams to monitor the other eye every two to four months for at least 28 months, unless it’s known to not be inherited. 

    Retinoblastoma in both eyes (bilateral) is always inherited.  

    Will it spread to other organs of my child’s body?

    It’s rare but possible that retinoblastoma cells spread (metastasize) to other areas of the body, including the bone marrow.

    Should other members of my family be tested for retinoblastoma?

    Since retinoblastoma is overwhelmingly a tumor that affects children, it’s extraordinarily rare that a parent would be diagnosed with retinoblastoma after his or her child were diagnosed. Siblings of a child with retinoblastoma have around a 45 percent chance of developing it too, and should be evaluated regularly by an ophthalmologist until they’re 5 or 6.

    What is the expected outcome after treatment?

    With prompt and aggressive treatment, most children with retinoblastoma are successfully treated with a combination of chemotherapy, radiation, laser therapy or surgery.

    Will my child be blind?

    Each child’s case is different, but the long-term outlook for vision often depends on the size and location of the tumor and on the effectiveness of treatment. Having a retinoblastoma in one eye rarely affects vision in the other eye.

    Where will my child be treated?

    Children treated through Dana-Farber/Children’s Hospital Cancer Center receive their outpatient care at the Jimmy Fund Clinic, which is located on the third floor of the Dana Farber Cancer Institute. If your child needs to be admitted to the hospital, she’ll stay at Boston Children’s Hospital, on the ninth floor of the Berthiaume building.

    Causes

    Retinoblastoma is genetic, which means that it’s caused by a mutation in a gene. This mutation prevents the body from making certain proteins that stop too many cells from building up in one place—in other words, from forming a tumor.

    About 70 to 75 percent of the time, this mutation develops in a family with no history of eye cancer. This is known as “sporadic retinoblastoma,” and usually only one eye is affected.

    But I thought you said that retinoblastoma was genetic?

    It is – it’s a common misconception that “genetic” always means “inherited.” In fact, “genetic” only means “caused by genes,” which can (and often does) mean genes that were inherited, but it can also mean genes that mutated spontaneously on their own.  

    About 25 to 30 percent of the time, retinoblastoma is inherited. In children with inherited retinoblastoma, both eyes are often affected.

    Signs and symptoms

    Symptoms usually tend to develop between the ages of 1 and 2. Some of the most common include:

    • leukocoria—the pupil of the eye appears white instead of red when light shines into it. It’s also often seen in photos that had been taken with a flash. Instead of the typical “red eye,” the pupil may appear white or distorted. Leukocoria is the most common symptom of retinoblastoma, but it’s not required for a diagnosis.
    • strabismus ( also called “wandering eye” or “crossed eyes”)— one or both eyes don’t appear to be looking in the same direction
    • pain or redness around the eye(s)
    • poor vision or change in vision

    Keep in mind that these symptoms can be caused by other conditions—for example, leukocoria and poor vision may be caused by a cataract—so it’s important to always see a specialist for a diagnosis.

    FAQ

    Q: What's the long-term outlook for a child with retinoblastoma?
    A:
    Most likely. Retinoblastoma can usually be cured—there’s a higher than 90 percent survivorship.

    Q: Will my child be blind?
    A:
    Each child’s case is different. The long-term outlook for vision often depends on the size and location of the tumor and on the effectiveness of treatment. Rest assured that your child’s doctors will do everything possible to save her vision.

    Q: What treatments are available for retinoblastoma?
    A:
    Treatments for retinoblastoma may include radiation, cryotherapy, thermotherapy, chemotherapy and enucleation (surgery to remove the eye, only performed as a last result when the health of the child would be in serious jeopardy otherwise).There are also a number of clinical trials that test new therapies. 

    Q: When is a diagnosis usually made?
    A:
    When there is no family history of retinoblastoma, the cancer is usually diagnosed when the child is 1 to 2 years old. This is when symptoms begin to develop. If there is a family history, a child may be diagnosed before symptoms develop.

    Questions to ask your doctor

    After your child is diagnosed with retinoblastoma, you may feel overwhelmed with information. It can be easy to lose track of the questions that occur to you. Lots of parents find it helpful to jot down questions as they arise – that way, when you talk to your child’s doctors, you can be sure that all of your concerns are addressed.

    Some of the questions you may want to ask include:

    • Has my child’s tumor spread?
    • Can it be treated with surgery?
    • How long will my child need to be in the hospital?
    • What are the possible short and long-term complications of treatment? How will they be addressed?
    • What is the likelihood that my child will be cured?
    • What is the likelihood that my child’s vision will be spared?
    • What happens if the tumor returns?
    • What services are available to help my child and my family cope?

  • The first step in treating your child is forming an accurate and complete diagnosis. In addition to a complete medical history and physical examination, your child’s doctor may order one or more tests to determine the cause of her symptoms. Most often, the tests are performed under general anesthesia, so your child won’t feel a thing. Tests include:

    • complete eye examination—While your child is under anesthesia, the doctor will dilate her pupils and examine the inside of her eye, including the retina and optic nerve.
    • computerized tomography scan (CT scan)—This is an imaging procedure that shows detailed pictures of areas inside the body, including the eye. Your child may be given a dye to help the picture of her eye show up more clearly.
    • magnetic resonance imaging (MRI)—This is an imaging procedure that uses a combination of large magnets, radiofrequencies and a computer to produce detailed images of organs and structures within the body.
    • ultrasound of the eye—Ultrasonography is an imaging procedure that uses sound waves to produce an image of body tissues, and can let doctors get a close look at your child’s eye.

    Retinoblastoma is usually diagnosed without a biopsy.

    In addition, our genetic counselors will meet with you and discuss the possibility of taking a blood sample and running tests to look for the abnormal retinoblastoma gene. This allows us to confirm a diagnosis of retinoblastoma, and determine whether the mutation is heritable.

    Stages of retinoblastoma

    During the diagnosis procedure, your child’s doctors will be looking to determine the size, number and location of the tumors; and whether they have spread to the other parts of the body. This is called staging and it’s an important step in planning treatment. 

    Various staging systems can be used for retinoblastoma. Until recently, the Renee-Ellsworth classification system was the most popular method, but this is now being replaced by the International Classification of Retinoblastoma (ABC classification).

    International (ABC) Classification System

    Group A

    • small tumor(s) located only in the retina
    • no tumor is larger than 3 millimeters (mm)
    • no tumor is closer than 2 disc diameters (DD) from the fovea (the 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) located only in the retina
    • any location in the retina
    • no vitreous seeding
    • no retinal detachment more than 5 mm from tumor base

    Group C

    • fine, diffuse (spread throughout) or localized (located in one spot) 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

    Recurrent

    • cancer comes back after treatment

    Retinoblastoma may also be classified as intraocular (inside the eye) or extraocular (the cancer has spread outside the eye).

    After we complete all necessary tests, our experts meet to review and discuss what they have learned about your child's condition. Then we will meet with you and your family to discuss the results and outline the best treatment options.


  • We understand how difficult a diagnosis of retinoblastoma can be, both for your child and for your whole family. That's why our physicians are focused on family-centered care: From your first visit, you'll work with a team of professionals who are committed to supporting all of your family's physical and psychosocial needs. We'll work with you to create a care plan that's best for your child. 

    The good news is that since it's usually found before it spreads outside of the sclera (white part of the eye), retinoblastoma is highly curable. And there are many types of treatment that can save sight in the affected eye.

    Some treatments are standard and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment.

    Standard treatments

    1. Chemotherapy

    Until recently, chemotherapy was used only to treat retinoblastoma that had spread outside the eye. Now, more doctors are using chemotherapy as a first-line of treatment in order to prevent the spread of cancer to other parts of the body.

    At Boston Children's Hospital, we use the following types of chemotherapy treatment:

    Chemoreduction—medicine is given through an IV, passes through your child's blood stream, and if successful, causes the tumors to shrink within a few weeks. Depending on which drugs your doctor prescribes, your child may or may not be hospitalized during treatment.

    Afterwards, we'll re-examine your child, and treat any remaining tumors with cryotherapy, thermotherapy, photocoagulation or radiation. Chemoreduction alone rarely if ever cures retinoblastoma, and some children may require as many as twenty treatments every three weeks.

    Intra-arterial chemotherapy—a newer treatment for more advanced retinoblastoma in which the medicine is injected directly into the main blood vessel of the eye (ophthalmic artery). This treatment was designed to minimize the amount of contact the chemotherapy has with the rest of your child's body, and reduce side effects. It can deliver a much higher dose of chemo straight to the eye, and may kill more cancer cells in fewer treatments.

    During this procedure, your child is put to sleep by an anesthesiologist. Then the surgeon inserts a thin tube through a blood vessel in your child's groin, and feeds it up to the ophthalmic artery. Then the medication is injected through the tube up to the eye.

    The average number of treatment sessions is about three for each eye, delivered every four weeks. Download fact sheet for referring physicians

    2. Surgery

    Surgery is usually reserved for children with advanced retinoblastoma that doesn't respond to other treatments. It's most often a last resort used when the health of the child is in serious jeopardy. In these cases, the eye may need to be removed, during a procedure called enucleation. While it's technically possible for the tumor to return following this procedure, it's extremely rare.

    Enucleation is a relatively simple operation that's performed while your child is under general anesthesia. Following the surgery, the eye is replaced with an orbital implant, and after the eye has healed (usually around three months), an artificial eye—that can be made to match your child's healthy eye—can be worn. Some newer types of implants allow the artificial eye to move, but they're not yet able to provide vision.

    Children who have an artificial eye can still participate in sports, as long as they use proper protective eyewear.

    3. Cryotherapy

    Cryotherapy (sometimes called cryosurgery), is used to treat small tumors or additional tumors that develop. It's often used together with chemotherapy, or it may be used after radiation therapy.

    During cryotherapy, your child is first put to sleep by an anesthesiologist. Then the surgeon uses ultrasound to guide and place a small, extremely cold probe directly on the tumor. He or she is extremely careful to ensure that the surrounding healthy tissue remains unharmed. Cryotherapy may be repeated on several occasions, if necessary.

    An advantage of this procedure is that it may help prevent the need for enucleation or radiation therapy. The major disadvantages are that it may leave a scar which damages vision, and it's not very effective in treating larger tumors.

    4. Thermotherapy

    Thermotherapy is a method of delivering heat to the eye using ultrasound, microwaves or infrared radiation. Like cryotherapy, it's only useful for very small tumors, and can be combined with chemotherapy or radiation therapy. Thermotherapy leaves a relatively small scar, and tends to preserve more vision than cryotherapy.

    5. Photocoagulation

    Photocoagulation, also called light coagulation, is another method for treating small tumors. This technique uses focused light from a laser to destroy the tumor by destroying its blood supply. It's sometimes used in combination with chemotherapy.

    6. Radiation

    Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy:

    • External radiation therapy uses a machine outside the body to send radiation toward the cancer.
    • Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, plaques or catheters that are placed directly into or near the cancer.

    The way the radiation therapy is given depends on the type and stage of the cancer being treated. Methods of radiation therapy used to treat retinoblastoma include:

    • Intensity-modulated radiation therapy (IMRT) —A type of 3-dimensional (3-D) radiation therapy that uses a computer to make pictures of the size and shape of the tumor. Thin beams of radiation of different intensities (strengths) are aimed at the tumor from many angles. This type of radiation therapy causes less damage to healthy tissue near the tumor.
    • Stereotactic radiation therapy—Radiation therapy that uses a rigid head frame attached to the skull to aim high-dose radiation beams directly at the tumors, causing less damage to nearby healthy tissue. You may also here it called stereotactic external-beam radiation or stereotaxic radiation therapy.
    • Proton beam radiation therapy—Radiation therapy that uses protons made by a special machine. A proton is a type of high-energy radiation that is different from an x-ray.
    • Plaque radiotherapy—Radioactive seeds are attached to one side of a disk, called a plaque, and placed directly on the outside wall of the eye near the tumor. The side of the plaque with the seeds on it faces the eyeball, aiming radiation at the tumor. The plaque helps protect other nearby tissue from the radiation.

    Side effects

    While surgery, radiation and chemotherapy can be very helpful in helping your child battle retinoblastoma, they may come with side effects:

    • Radiation often produces inflammation, which can temporarily make symptoms and dysfunction worse.
    • Some chemotherapy agents are associated with fatigue, diarrhea, constipation and headache. These side effects can usually be effectively managed with standard medical approaches.

    Our cancer treatment center has specialists who deliver complementary or alternative medicines. These treatments, which may help control pain and side effects of therapy, include:

    • acupuncture/acupressure
    • therapeutic touch
    • massage
    • herbal supplements
    • dietary recommendations

    Talk to your child's physician about whether complementary or alternative medicine might be a good option for your child.

    New types of treatment being tested in clinical trials

    1. Subtenon chemotherapy

    Subtenon chemotherapy uses drugs injected through the membrane covering the muscles and nerves at the back of the eyeball. This is a type of regional chemotherapy. It's usually combined with systemic chemotherapy and local treatment (such as radiation therapy, cryotherapy, photocoagulation or thermotherapy).

    2. Ophthalmic arterial infusion therapy

    Ophthalmic arterial infusion therapy is a type of regional chemotherapy used to deliver anticancer drugs directly to the eye. A catheter is put into an artery that leads to the eye and the drug is given through the catheter. During this treatment, a small balloon may be inserted into the artery to block it and keep most of the drug trapped near the tumor.

    3. High-dose chemotherapy with stem cell transplant

    High-dose chemotherapy with stem cell transplant is a way of giving high doses of chemotherapy and replacing blood-forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells.

    4. Biologic therapy

    Biologic therapy is a treatment that uses your child's immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the body's natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Clinical trials for retinoblastoma are studying a biologic therapy called gene therapy. This is a treatment that changes a gene to improve the body's ability to fight the disease.

    Check for U.S. clinical trials for intraocular retinoblastoma from National Cancer Institute's PDQ Cancer Clinical Trials.

    Check for U.S. clinical trials for extraocular retinoblastoma from National Cancer Institute's PDQ Cancer Clinical Trials.

    What is the long-term outlook for children with retinoblastoma? 

    As with any cancer, the prognosis can vary greatly from child to child. Luckily, the survival rate is very high and prompt medical attention and aggressive therapy usually contribute to your child's best outcome.  

    What will long-term care for my child be like?

    Lifelong follow-up care is crucial if your child has been treated for retinoblastoma—one reason is that he's more likely to develop a different type of cancer elsewhere in his body. The most common of these secondary cancers is osteosarcoma (cancer of the bone). Retinoblastoma has also been linked to melanoma, breast, lung, bladder and other types of cancers much later in life. Researchers are working to understand why these secondary cancers occur in survivors of retinoblastoma.

    It's important for your child to visit a survivorship clinic every year to:

    • manage disease complications
    • screen for recurrence of cancer and/or secondary cancers
    • manage late effects of treatment

    A typical follow-up visit may include some or all of the following:

    • physical exam
    • laboratory testing
    • imaging scans

    Through the David B. Perini, Jr. Quality of Life Clinic at Dana-Farber Cancer Institute, childhood cancer survivors receive a comprehensive follow-up evaluation from their cancer care team.

    Coping and support

    In addition to providing medical care, we strive to also meet all of your family's emotional and quality-of-life needs. We know that unfamiliar places, especially hospitals, often create anxiety and fear for a child. We also know this isn't an easy time or task for parents, who have their own fears and concerns about the situation. Our family support services will help address many of your needs and concerns. Read about our resources and support services.


  • Boston Children's Hospital and Dana-Farber Cancer Institute are conducting numerous research studies that will help clinicians better understand and treat retinoblastoma and other pediatric solid tumors.

    The Dana-Farber/Boston Children's Transplant Program is one of only eight institutions around the country that are investigating the use of umbilical cord transplantation. Also under study is a new method for preventing graft versus host disease, a serious complication that occurs when the transplant recipient’s cells do not recognize the new cells and react against them. The result of this treatment approach, if it continues to be as successful, will be that the degree of match between donor and the recipient will not need to be particularly close, which means more potential donors for each patient. This could also eliminate the need for long-term drug therapy that has traditionally been needed to treat graft versus host disease.

    Other types of treatment currently being studied include:

    • angiogenesis inhibitors—substances that may be able to prevent the growth of tumors by blocking the formation of new blood vessels that feed the tumors
    • biological therapies—a wide range of substances that may be able to involve the body's own immune system to fight cancer or lessen harmful side effects of some treatment


Request an Appointment

If this is a medical emergency, please dial 9-1-1. This form should not be used in an emergency.

Patient Information
Date of Birth:
Contact Information
Appointment Details
Send RequestIf you do not see the specialty you are looking for, please call us at: 617-355-6000.International visitors should call International Health Services at +1-617-355-5209.
Please complete all required fields

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

Thank you.

Your request has been successfully submitted

You will be contacted within 1 business day.

If you have questions or would like more information, please call:

617-355-6000 +1-617-355-6000
close
Find a Doctor
Search by Clinician's Last Name or Specialty:
Select by Location:
Search by First Letter of Clinician's Last Name: *ABCDEFGHIJKLMNOPQRSTUVWXYZ
BrowseSearch
Condition & Treatments
Search for a Condition or Treatment:
Show Items Starting With: *ABCDEFGHIJKLMNOPQRSTUVWXYZ
View allSearch
Locations
The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”
- Sandra L. Fenwick, President and CEO
Close