Retinoblastoma | Diagnosis & Treatment

How is retinoblastoma diagnosed? 

The first step in treating your child is to obtain 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 their symptoms. Most often, the tests are performed under general anesthesia, so your child won’t feel a thing. Tests include:

If advanced disease is suspected, other work-up may be needed, including specialized imaging such as a bone scan, and studies such as a lumbar puncture and evaluation of the bone marrow. Retinoblastoma is usually diagnosed without a biopsy.

In addition to physical exam and imaging procedures, our genetic counselors from the Pediatric Cancer Genetic Risk Program will meet with you and discuss the possibility of taking a blood sample and running tests to look for an abnormal retinoblastoma gene. This allows us to have an informed discussion with you about whether the condition in your child’s case is heritable (as described above in the "causes" section).

Stages of retinoblastoma

During the workup for retinoblastoma, your child’s doctors will look to determine the size, number and location of the tumor or tumors, and whether they have spread to the other parts of the body. This is called staging, and is an important step in planning treatment. 

Your team will determine whether the retinoblastoma is intraocular (inside the eye) or extraocular (the cancer has also spread outside the eye).

Recurrent retinoblastoma refers to cases where the tumor comes back after treatment.

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 to outline the best treatment options for your child. 

What are the treatment options for retinoblastoma?

We understand how difficult a diagnosis of retinoblastoma can be, both for your child and for your whole family. That's why our specialists 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 retinoblastoma is usually found before it spreads outside of the sclera (the outer white part of the eye), the condition is highly curable. Fortunately, there are several types of treatment that can save sight in the affected eye. These are described below:

Intra-arterial chemotherapy

Traditional forms of treatment for retinoblastoma carry the risk of injuring the eye (for example, when radiation is used) or of causing systemic symptoms, such as a weakened immune system (for example, when IV chemotherapy is used). For these reasons, our retinoblastoma treatment team will utilize intra-arterial chemotherapy whenever it is appropriate for a patient’s tumor. 

Intra-arterial chemotherapy is a relatively newer treatment for retinoblastoma in which the chemotherapy is injected directly into the main blood vessel of the eye (the ophthalmic artery). This treatment was designed to minimize the amount of contact the chemotherapy has with the rest of your child’s body, so as to reduce side effects. Even though the total dose of chemotherapy injected is lower than in traditional IV treatment, the dose delivered directly to the eye is much higher, and so may kill more cancer cells in fewer treatments. The eye is uniquely suited to intra-arterial chemotherapy because the blood supply to the eye, in almost all cases, travels through just one feeding artery.

During this procedure, your child is put to sleep by an anesthesiologist. Then the surgeon inserts a thin catheter through a blood vessel in your child’s groin, and feeds it up the arteries of the body to the ophthalmic artery. At this point, the chemotherapy is injected through the catheter directly to the eye. The average number of treatment sessions is three to four for each affected eye, delivered about every four weeks.

Because young children have smaller and more fragile arteries than adults, it is important that children who receive intra-arterial chemotherapy are treated at a pediatric-specific cancer center. At Dana-Farber/Boston Children’s, our interventional neuroradiologists have specialized expertise in working with children, including babies and toddlers, and our complication rates are the lowest published for comparable procedures performed at other centers, including both adult and pediatric centers.

Chemoreduction

With chemoreduction, chemotherapy is given through an IV. It 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. Chemoreduction rarely, if ever, cures retinoblastoma when used alone, so additionally treatments such as cryotherapy, thermotherapy, photocoagulation, or radiation also would be needed (see descriptions below).

Surgery

Surgery is usually reserved for children with advanced retinoblastoma that doesn't respond to other treatments. In these cases, the eye may need to be removed during a procedure called enucleation. While it is theoretically possible for the tumor to return even following this procedure, such cases would be extremely rare.

Enucleation is a relatively simple operation that is 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, an artificial eye – made to match your child's healthy eye – can be worn. Some newer types of implants allow the artificial eye to move, but implants are 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.

Cryotherapy

Cryotherapy (sometimes called cryosurgery), applies extreme cold directly to the tumor and is used to treat small tumors or additional tumors that develop outside of the original tumor. Cryotherapy is 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 onto the tumor. The surgeon takes extreme care to ensure that the surrounding healthy tissue remains unharmed. Cryotherapy may be repeated on several occasions, if necessary.

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

Thermotherapy

Thermotherapy is a method of delivering heat to the eye using ultrasound, microwaves, or infrared radiation. Like cryotherapy, thermotherapy is 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.

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. Photocoagulation is sometimes used in combination with chemotherapy.

Radiation

Radiation therapy is a cancer treatment that uses high-energy X-rays or other types of radiation to kill cancer cells.

Side effects

All treatment types have side effects associated with them. Your care team will discuss side effects and ways to manage them before your child begins treatment.

Dana-Farber/Boston Children’s also offers specialists who deliver complementary or alternative medicines. These treatments, which may help control pain and the side effects of therapy, include:

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

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

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

One hundred years ago, retinoblastoma was almost always fatal. Today, retinoblastoma has one of the highest cure rates of all childhood cancers – about 95 to 98 percent – with more than nine out of every 10 children surviving well into adulthood. Lifelong follow-up is crucial for children with hereditary retinoblastoma who are at risk of developing cancer elsewhere in the body later in life. All children who have received cancer-directed therapy should also be followed for late-effects of treatment. Through the David B. Perini Jr. Quality of Life Clinic, childhood cancer survivors receive comprehensive follow-up evaluations from their cancer care team.