Cancers and Tumors

Retinoblastoma

What is retinoblastoma?

Retinoblastoma is a cancer of the eye. It is pronounced reh-tih-no-blas-TOE-muh.

Eye Anatomy

This cancer starts in the lining inside the back of your child’s eye (retina). The retina senses light and sends signals through the optic nerve to the brain.

Retinoblastoma mostly affects children younger than 5 years. Most are younger than 2. Cancer in children is very rare. Retinoblastoma accounts for about 3% of childhood cancers.

The cancer may affect 1 eye or both. Most of the time, retinoblastoma is found and treated before it spreads beyond the eye.

To have the best chance of a cure, a child needs care by a team experienced in treating eye cancer in children. Your child’s team at Seattle Children’s will include pediatric specialists in cancer (oncologists), eye conditions (ophthalmologists) and related treatments such as interventional radiology.

  • Retinoblastoma is caused by a change (mutation) in a gene. Usually part of the gene is missing. Normally, the gene makes a protein that prevents cells from growing out of control. The mutation stops the gene from working correctly. We do not know why this change happens. It is not because of anything a child or parent does.

    In 20% of children with retinoblastoma in the United States, the abnormal gene is present at birth and is in all cells of their body. This type of retinoblastoma is called hereditary because the abnormal gene can be passed on to children.

    In 80% of retinoblastoma, the gene is not abnormal at birth. It changes over time. Children with the hereditary type usually develop retinoblastoma in both eyes. They also are at higher risk of other cancers.

Retinoblastoma at Seattle Children’s

Doctors at our Cancer and Blood Disorders Center focus on curing cancer in children and teens, including rare types like retinoblastoma. Seattle Children’s treats more pediatric cancer than any other center in the region.

Please contact the center at 206-987-2106 for more information, a second opinion or to make an appointment.

  • A team that specializes in your child’s cancer will take care of your child. A doctor specially trained in diagnosing and treating cancer in children (pediatric oncologist) will guide your child’s care.

    Your oncologist works closely with an eye doctor and, often, with a doctor who uses imaging to treat diseases (interventional radiologist). All are experienced in caring for children with retinoblastoma.

    We care for your whole child. We don’t just treat their cancer. Your child’s team may include specialists in nutrition, pain management, social work, physical therapy, psychiatry and emotional health. Read more about the supportive care we offer.

    We work together, and with you and your family’s doctor, to manage your child’s personalized care.

  • Seattle Children’s provides the most advanced treatments in our region. Our experience helps us recommend the right treatment at the right time to have the best results for your child and your family.

    One of our treatment options is high-dose cancer-killing medicine delivered directly into the blood vessel that feeds the tumor. Fewer than 10 centers in the United States offer this treatment. It is called intra-arterial chemotherapy.

    Seattle Children’s is the only hospital offering it in our 6-state region (Washington, Oregon, Alaska, Montana, Idaho and Wyoming).

  • For the past decade, U.S. News & World Report has consistently ranked Seattle Children's Cancer Center among the best in the nation. In 2017, our program was ranked #1 in the Northwest.

    At Seattle Children’s Cancer Center, our outcomes for a wide range of cancers are significantly better than the national average.

    Through our partnership in Seattle Cancer Care Alliance (SCCA), our patients benefit from the work of physician-scientists at Fred Hutch and UW Medicine, as well as at Seattle Children’s. The National Cancer Institute has designated our partnership a comprehensive cancer center.

  • Our specialty is treating children’s cancer while helping them grow up to be healthy and productive adults.

    Children don’t react to illness, injury, pain and medicine in the same way as adults. They need — and deserve — care designed just for them.

    Our cancer doctors have special training in how to diagnose and treat children with cancer. Our experts are focused on how treatments today affect growing bodies in the future. Their treatment plans are based on their years of experience and the newest research on what works best — and most safely — for children.

  • A diagnosis of retinoblastoma can be scary. We help take positive steps right away by offering appointments the same day we receive your doctor’s referral for children who are newly diagnosed.

    During visits, we take time to explain your child’s condition. We help you fully understand your treatment options and make the choices that are right for your family.

    Our child life specialists and social workers help your child and your family through the challenges of cancer. We connect you to community resources and support groups.

    See information for our patients and families about financial counseling, housing, transportation, schooling, interpreter services and spiritual care.

  • People who have been treated for cancer may be affected for months or years by their disease or treatment. Our Cancer Survivor Program provides long-term follow-up care to help children and young adults stay healthy after being treated for cancer in childhood.

  • Our doctors are international leaders in research that improves the outlook for children and teens fighting cancer. They help set national standards for care of children with cancer. We belong to national and international research groups working to improve care and find cures for young people with cancer.

    As a member of organizations like the Children’s Oncology Group (COG), Seattle Children’s can offer our patients the latest treatment options through clinical trials, including Phase 1 studies. These early studies are not available at most treatment centers.

    The knowledge we gain through research improves the care we give all children with cancer.

    Our research is helping us to:

    • Develop new treatments to improve cure rates
    • Reduce the side effects and long-term effects of treatment
    • Understand how cancer starts inside the body’s cells

    Learn about cancer research at Seattle Children’s.

Symptoms of Retinoblastoma

The most common sign of retinoblastoma is when the pupil of the eye (the black center) looks white instead of red when light shines through it. This can be seen during an eye exam or from a camera flash.

These other signs may be caused by retinoblastoma or another condition. Check with a doctor if your child has any of these:

  • Vision problems
  • Pain or redness in the eye
  • Eyes that look in different directions (crossing inward or wandering outward)
  • Clouding of the colored part of the eye (iris) and pupil

Diagnosing Retinoblastoma

  • To diagnose your child, an eye doctor will:

    • Do an exam to check your child’s general health.
    • Ask about your child’s health and family health history, including whether other family members have had retinoblastoma.
    • Check your child’s eyes with a special light and magnifying lens. Eye drops will make the pupil open wider so the doctor can see the back of your child’s eye.

    To get more information to accurately diagnose your child, your doctor will:

    • Take a more complete look in your child’s eyes after giving them medicine to make them sleep without pain (general anesthesia).
    • Take pictures inside your child’s body (imaging studies) to look for tumors or places where cancer can be active. Usually, doctors use MRI (magnetic resonance imaging) of the head and eye sockets (orbits) to check for retinoblastoma. MRI can make very detailed pictures of the eye and the area around it without using radiation.

  • It is important to find out if cancer is only within the eye (intraocular) or has spread beyond the eye (extraocular). This process is called staging.

    Knowing the stage of your child’s cancer helps your doctor plan the right treatment. The stage of retinoblastoma also affects the chances of saving your child’s vision and their life.

    There are several systems for staging retinoblastoma. At Seattle Children’s we use the International Retinoblastoma Staging System (IRSS). IRSS stages are based on:

    • The size and location of tumor(s) within the eye
    • Whether the cancer has spread beyond the eye and the location of those cancer cells

    An eye exam and MRI scan help your child’s doctor stage retinoblastoma. If the MRI shows that cancer may have spread beyond your child’s eyes, they also may need these tests:

    • Bone marrow aspiration or biopsy: This test shows if retinoblastoma has spread to the soft inner part of bone (bone marrow). Your child’s doctor will place a hollow needle into the hip bone and suck out (aspirate) a small sample of liquid bone marrow. Then the doctor pushes a larger needle into the bone to remove a small amount containing marrow. A pathology doctor will look at the samples under a microscope to check for cancer cells.
    • Lumbar puncture: This test may be needed if there are concerns that cancer has spread to your child’s brain. Your doctor will place a small, hollow needle between the bones of the spine to remove cerebrospinal fluid (the fluid that surrounds the brain and spinal cord). This is also called a spinal tap.

  • We recommend genetic counseling if your child is diagnosed with retinoblastoma. About 20% of children with retinoblastoma in the United States are born with an abnormal gene (mutation). In hereditary retinoblastoma, the gene mutation may either:

    • Be inherited from a parent
    • Have happened while your child was developing in the womb

    Children with hereditary retinoblastoma are at higher risk of:

    • Retinoblastoma in both eyes.
    • Developing cancers affecting other parts of the body, such as the bones, muscles, bladder or skin.
    • Developing a tumor in the pineal gland in their brain. This is rare.

    A special blood test can check for the abnormal gene. A person with the abnormal gene for hereditary retinoblastoma has a 50% chance in each pregnancy of passing the abnormal gene to their child.

    Doctors will check your child more often for signs of retinoblastoma and other cancers if either:

    • Genetic testing shows your child’s retinoblastoma is hereditary
    • There is a family history of retinoblastoma (even without genetic testing to confirm it)

    Our Genetic Counseling Clinic can advise you about the pros and cons of genetic testing. Our genetic counselors explain test results and give you information about your child’s condition. Counseling can help you make informed decisions about family planning and your child’s treatment.

Treating Retinoblastoma

Our goals are to:

  • Save your child’s vision
  • Cure their cancer
  • Prevent serious side effects, both short term and long term

Treatment is based on your child’s retinoblastoma

Your child’s treatment plan will depend on:

  • Whether their retinoblastoma affects 1 eye or both eyes
  • The size and location of the tumors in each eye
  • Whether the cancer has spread beyond the eyes
  • The likelihood of saving your child’s vision
  • How their cancer responds to treatment
  • Your child’s age and overall health
  • Your family’s preferences for treatment

Many children receive a combination of treatments based on the location and size of the tumors.

  • If cancer is limited to your child’s eye and your doctor expects the eye can be saved: Treatment is likely to start with chemotherapy (intra-arterial or whole body) to kill or shrink the tumor. Chemotherapy may be the only treatment your child needs. But most children also need direct treatment of any tumors with freezing (cryotherapy) or laser (thermotherapy). These treatments are done as soon as chemotherapy has made the tumors in the eye small enough.
  • If the tumor is large and it is not likely that your child’s eye can be saved: Your child may need surgery to remove the eye. If the retinoblastoma is in both eyes, doctors will try to save at least one eye if at all possible so your child still has some vision.
  • If cancer has spread to other parts of their body: Your doctor may recommend whole-body chemotherapy to lower the amount of cancer cells that have spread. If cancer has spread only to the optic nerve nearest the affected eye, your child may receive milder chemotherapy. If your child’s retinoblastoma has spread farther, your child will need high-dose, whole-body chemotherapy. They also will get infusions of their own blood-forming stem cells to help reduce side effects from high-dose chemo.
  • If the cancer does not respond to treatment (progressive) or returns after treatment (recurrent), your child is likely to need a combination of treatments. These may include intra-arterial chemotherapy, cryotherapy, laser therapy, surgery to remove the eye or intense chemotherapy.
  • Radiation is rarely used to treat retinoblastoma now because radiation affects the growing bones of the eye socket. Radiation also increases the risk of other cancers in children with hereditary retinoblastoma.

Seattle Children’s offers these treatments for retinoblastoma

  • Putting chemotherapy directly into the blood vessel (artery) that feeds the eye and the tumor(s) is called intra-arterial chemotherapy. It also is called super selective intra-optic artery chemotherapy.

    When medicines are put into the artery leading to the eye, doctors can use smaller doses compared to whole-body chemotherapy. The drug is delivered more directly to the tumor, with higher doses in the fluid of the eye. As a result, children have fewer side effects.

    Fewer than 10 centers in the United States offer intra-arterial chemotherapy for retinoblastoma. Seattle Children’s is the only provider of this treatment in our 6-state region. We offer intra-arterial chemotherapy for children with all stages of retinoblastoma.

    This treatment is used for children 9 months and older if there are no signs of cancer outside the eye. Younger babies have very small blood vessels. They receive whole-body chemotherapy instead of intra-arterial chemotherapy.

    Your child will get medicine to make them sleep and not feel pain. Then the doctor places a very thin, flexible tube (catheter) into a blood vessel on your child’s thigh. The doctor threads the tube through the blood vessels, through the heart and into the arteries to the head until it reaches the artery that supplies blood to the eye.

    The medicine your child receives depends on their cancer. Usually children start with a single medicine. If their tumor does not respond to this medicine, your child’s next treatments may include 2 more medicines. Your child will receive at least 2 treatments, 3 to 4 weeks apart. Your doctor will examine your child’s eye and tumor to decide if more treatments are needed.

    At Seattle Children’s many children receive intra-arterial chemotherapy to shrink the tumor, which is then treated with freezing or laser.

    Your child will receive intra-arterial chemotherapy at our hospital’s main campus in Seattle. After the procedure, we watch your child closely to make sure they do not have blood clots or other problems. Most children spend a night at our Cancer Care Unit for careful monitoring.

  • Whole-body (systemic) chemotherapy means giving medicines that go throughout your child’s body to kill cancer cells. For retinoblastoma, the medicine usually is injected into your child’s vein. This is called an intravenous (IV) infusion.

    Your child’s doctors may suggest whole-body chemotherapy:

    • To help shrink a tumor before another type of treatment is used, such as laser or freezing therapy
    • To kill any remaining cells after surgery or other treatment
    • As the main treatment if retinoblastoma has spread beyond your child’s eyes

    Most children receive chemotherapy at our infusion center on the hospital’s main campus in Seattle as a day procedure.

    If your child’s cancer extends beyond their eye, they will get higher doses of medicines. To reduce side effects after the fifth and sixth courses of chemotherapy, your child also will get infusions of their own blood-forming stem cells.

    Doctors will remove blood-forming stem cells from your child before starting high-dose chemotherapy. The cells are frozen and stored. Doctors return the stem cells to your child’s body through a vein. Blood-forming cells are called hematopoietic (hee-MA-toh-poy-EH-tik) stem cells.

    Getting back their stored, healthy stem cells helps boost your child’s production of new blood cells. Children who need more intensive chemotherapy stay in the hospital in our 48-bed Cancer Care Unit (as inpatients).

    See more about getting chemotherapy at Seattle Children’s.

  • Cold treatment (cryotherapy) freezes and destroys cancer cells. Doctors put a small metal probe on the outside of the eye near where the tumor is on the inside. The probe is made very cold so that a ball of ice forms over and around the tumor. The cancer cells are frozen and thawed several times. This kills them.

    Cryotherapy is used for smaller tumors in the front half of the eye. Usually children receive chemotherapy first to make the tumor small enough to freeze.

    Your child will get medicine to make them sleep without pain during the treatment. Most likely, your child will get 2 or more treatments, about a month apart.

    Cryotherapy is done at our hospital’s main campus in Seattle. Most children are able to leave the hospital the same day as the surgery.

    Possible side effects

    Cold treatment may damage the retina, causing blind spots. It also may temporarily cause the retina to pull away (detach) from the eyeball. Your child’s brain adapts and their eye moves differently to “fill in” any blind spots caused by these holes in the retina.

  • Using extreme heat to kill cells is called thermotherapy. Usually, thermotherapy is done with a laser that gives off infrared or green light that heats and kills the tumor cells. This treatment is used for small tumors in the back part of the eye. Usually children receive chemotherapy first to make the tumor small enough to treat with a laser.

    Your child will get medicine to make them sleep without pain during the treatment. Your child will get 1 or more treatments, about a month apart. Often doctors can treat more than 1 tumor during a single surgery.

    Laser therapy is done at our hospital’s main campus in Seattle. Most children do not need to spend a night in the hospital.

    Possible side effects

    Laser (heat) therapy may damage the retina, causing blind spots. It also may temporarily cause the retina to pull away (detach) from the eyeball. Your child’s brain adapts and their eye moves differently to “fill in” any blind spots caused by these holes in the retina.

  • Surgery to remove your child’s eye may be needed if:

    • It is not likely that your child’s vision can be saved
    • Their tumor is large
    • The tumor remains after multiple treatments
    • Retinoblastoma comes back in the eye after multiple treatments

    If your child needs surgery, doctors will remove their whole eye and part of the optic nerve. This is called enucleation. Surgeons remove the entire eye (not just the tumor) because this is the best way to stop the cancer from spreading.

    Your child will get medicine to make them sleep without pain during surgery. After removing the eye, the surgeon sews a plastic implant in your child’s eye socket. The plastic ball is covered and the muscles that move the eye are closed over it. The implant is replaced in about 2 months with a prosthetic eye that can be made to match your child’s remaining eye. Your child’s muscles will move the prosthetic eye somewhat, but it will not move the same way their eye did.

    Surgery is done at our hospital’s main campus in Seattle. Most likely, your child will stay in the hospital for 1 or 2 nights before going home.

    Learn more about:

  • Follow-up care is important after treatment ends — no matter what type of treatment your child had. Your follow-up routine will depend on your child’s cancer and their treatments.

    • For children with nonhereditary retinoblastoma: Follow-up visits happen every 3 months for 18 months after your child’s last treatment. Then visits are every 6 months for 18 months.
    • For children with hereditary disease: Follow-up lasts for 5 years from the last active treatment. Your doctor will let you know the schedule that is right for you.

    During follow-up visits we will check your child for:

    • Ongoing problems from the chemotherapy or eye treatments.
    • Any signs that retinoblastoma has returned.
    • Normal function of the bone marrow, liver and kidney. Your child’s blood cells and chemistry will be tested.

    Your healthcare team will tell you and your child about any risk for other cancers and signs to watch for.

    Our Cancer Survivor Program provides long-term follow-up care to help young people stay healthy after being treated for cancer in childhood.

Contact Us

Contact the Cancer and Blood Disorders Center at 206-987-2106 for an appointment, a second opinion or more information.

To make an appointment, you can call us directly or get a referral from your child’s primary care provider. We encourage you to coordinate with your pediatrician or family doctor when coming to Seattle Children's.

Providers, see how to refer a patient.