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Together is a new resource for anyone affected by pediatric cancer - patients and their parents, family members, and friends.
Learn MoreRetinoblastoma is a cancer of the eye. It occurs most often in young children, usually before age 3. It rarely develops in children older than 5.
Retinoblastoma forms in the retina, a thin layer of nerve tissue in the back of the eye. Retina cells detect light and color. Unilateral retinoblastoma affects 1 eye. It is the most common form of the disease. Bilateral retinoblastoma affects both eyes.
Retinoblastoma is a cancer that forms in the retina of the eye. The retina is a thin layer of nerve tissue in the back of the eye.
Treatments for retinoblastoma include:
Retinoblastoma is rare. About 250–300 children are diagnosed per year in the United States. Retinoblastoma can be passed down in families (hereditary). More often, it is not hereditary.
In most patients, retinoblastoma is confined to the eye. The cure rate is above 95% in the United States because of early detection and available treatments. If the disease is not treated, it can spread to other parts of the body and become harder to treat. Patients with hereditary retinoblastoma are at higher risk for other cancers later in life.
A doctor may find retinoblastoma during a routine eye exam. More often, a parent or relative notices that a child’s eye looks different from normal. Some retinoblastoma symptoms are common to other eye problems. It is important to see a children’s eye doctor for evaluation.
Retinoblastoma usually comes from a mutation in the RB1 gene. This mutation causes cells to grow and divide abnormally.
There are 2 types of retinoblastoma: non-hereditary (sporadic) and hereditary.
The most common form of retinoblastoma is sporadic, or non-hereditary:
Retinoblastoma is hereditary in about 25–30% of patients.
Genetic testing is important in retinoblastoma. Both forms of retinoblastoma can affect risk of future cancers.
If a child shows signs of retinoblastoma, they should see a pediatric ophthalmologist, or children’s eye doctor. The eye doctor will screen your child to see if more tests are needed.
An eye exam under anesthesia (EUA) helps doctors diagnose retinoblastoma. In this test, a doctor looks closely at the eye using a magnifying lens after the eyes are dilated. A special camera takes digital pictures of the eye and tumor. The child is asleep during this test.
A biopsy is not used to diagnose retinoblastoma because it could cause cancer cells to spread.
Other tests used to help diagnose retinoblastoma include:
If the disease seems to have spread beyond the eye, doctors will take samples of bone marrow and cerebrospinal fluid. They may perform other imaging tests to look at the brain and spinal cord.
An exam under anesthesia (EUA) lets the doctor study the eye closely using special lights and a magnifying lens.
Large tumors may break into smaller tumors that float within the eye fluid. These are called vitreous seeds.
If retinoblastoma is not treated, it can spread:
Eye tumors are classified from Group A to Group E.
The group is based on tumor size, location, and extent of spread inside the eye. If both eyes are affected, each eye is classed separately.
Group A tumors are small and away from the center of vision. Patients with Group A tumors have a good chance of maintaining normal eye function and vision during and after treatment.
Group E tumors are large and have broken apart inside the eye (vitreous seeding). These tumors are more likely to spread outside the eye. Children with Group E tumors likely have reduced or complete loss of vision. They have a high risk of losing the eye, even with treatment.
| Tumor Group | Risk of Losing the Eye | Clinical Features |
|---|---|---|
| A | Very low risk | Tumor is small and only in the retina, not near important structures |
| B | Low risk | Tumor is larger and/or near important structures |
| C | Moderate risk | Tumor is mostly well-defined with little spread or seeding |
| D | High risk | Tumor is large or poorly defined with a lot of seeding |
| E | Very high risk | Tumor is very large and affects eye structure and function; higher chance of spread |
The stage of cancer refers to whether it has spread outside the eye. Stages 1 and 2 mean the tumor is only in the eye. Stages 3 and 4 mean the tumor has spread to tissues around the eye or to other parts of the body.
Tumor Group A
The tumor is small and only in the retina. It is not near important eye structures.
Tumor Group B
The tumor is larger and/or near important eye structures.
Tumor Group C
The tumor is mostly well-defined but has small amounts of spread or seeding.
Tumor Group D
The tumor is large or poorly defined and has a lot of seeding.
Tumor Group E
The tumor is very large and affects eye structure and function. The chance of spread is higher.
Treatment of retinoblastoma depends on whether the tumor affects 1 eye or both eyes, the extent of disease, and whether the tumor has spread. Doctors also consider:
Treatments may include:
Usually, doctors use a combination of treatments. Before starting therapy, you should discuss the treatment plan with your child’s doctors to understand the short- and long-term risks and benefits.
Chemotherapy, or chemo, uses strong medicines to kill cancer cells or stop them from growing. Chemo might use 1 medicine or more than 1 medicine.
Chemotherapy for retinoblastoma might include:
Chemotherapy alone cannot cure retinoblastoma. It is used along with other treatments.
Chemo for retinoblastoma might be given:
OAC should only be done by a medical team with experience in this technique to lower the risk of damage to the eye.
Focal therapy treats the tumor directly. If the tumor is very small, focal therapy alone may be enough to treat the cancer. It is done while the child is asleep under anesthesia. There are 3 types:
Surgery is used to remove the eye if necessary. This surgery is called enucleation.
Radiation therapy may be used for advanced retinoblastoma. External beam radiation uses a machine to deliver radiation to the entire eye. This is the most aggressive treatment for retinoblastoma. It is used to help the child keep their vision and to prevent the cancer from spreading. Because of the risk of long-term effects and second cancers, radiation is usually only used for patients whose cancer:
Very rarely, retinoblastoma spreads to the brain or cerebrospinal fluid. It can also spread to the liver, bones, bone marrow, or lymph nodes. Intensive chemo followed by autologous bone marrow transplant may be needed in these cases. Some patients may also need radiation therapy.
Hunter was diagnosed with retinoblastoma at 11 months old. He had surgery to remove his eye and has been cancer free since. Hunter enjoys all sports and is a great big brother.
Having only 1 eye really doesn’t affect what Hunter can do. His biggest physical challenge is making sure he doesn't knock his drink over each day. But basketball, baseball, golf? It doesn’t really affect him. He might have to make a few adjustments: change his stance, make sure to turn his head. But everyone has limitations to overcome.
Hunter (top), age 7, with brother Jake
Most children with retinoblastoma can be cured. The main factor that affects survival is whether the tumor has spread beyond the eye. If it is only in the eye, the chance for survival is excellent. If it has spread to other parts of the body, the cancer becomes harder to treat.
Other factors that can affect recovery include:
The survival rate for children with cancer only in the eye is higher than 95% with treatment.
The survival rate for cancer that has spread to the eye socket, lymph nodes, bone marrow, bones, or liver is about 80% with intensive chemotherapy, autologous stem cell rescue, and radiation therapy.
The survival rate for cancer that has spread to the brain or cerebrospinal fluid at the time of diagnosis is less than 10%.
Children will need regular eye exams under anesthesia throughout treatment and for a period after treatment. Recurrence can be managed with focal therapy if caught early. The medical team will suggest specific tests and their schedule.
Lifelong follow-up care for eye health is important for all retinoblastoma survivors. Eye exams by an ophthalmologist every 6–12 months (based on age) are a part of routine health care. Protective glasses help prevent eye injury.
Patients with eyesight loss may need glasses or other vision assistance. A low-vision specialist can help patients who have significant eyesight loss. Early introduction to braille also may be helpful.
When an eye is removed by surgery (enucleation), the surgeon will replace it with an orbital implant. After the eye socket heals, the child can be fitted for an artificial eye. This prosthetic eye is custom-made for the patient to look and feel as natural as possible. Most children who need eye removal adapt to vision changes before surgery. Children with a prosthetic eye can do their normal activities, including sports and swimming. Learn more about living with 1 eye.
Proper care of the prosthetic eye is important. The prosthetic is adjusted as the child grows, usually every 6 months. A patient with a prosthetic should have an eye exam every 6–12 months. These visits involve cleaning the prosthetic eye, making sure the fit is correct, and addressing any problems.
Common eye problems after retinoblastoma include:
Patients treated with external beam radiation therapy are at risk for certain late effects of therapy. These may include:
Hereditary retinoblastoma survivors have a greater risk of other cancers later in life. Young patients have routine brain MRIs until age 5 to screen for pineoblastoma. After age 5, there is no standard guideline on screening for second cancers. Your child should tell their primary health care providers about their medical history.
All cancer survivors should adopt healthy lifestyle habits. These include getting regular medical checkups by a primary care physician. Survivors who were treated with systemic chemotherapy or radiation should be monitored for late effects of therapy.
Your child’s care team should give you a survivorship care plan after treatment ends. This report will include needed tests and tips for a healthful lifestyle.
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Reviewed: July 2023