Early treatment is key

If your child has retinoblastoma, or cancer of the retina, you’ll be relieved to know that nearly all children with retinoblastoma live long, healthy lives if the cancer is diagnosed and treated early. Read on to learn more about retinoblastoma, how it is diagnosed, treatment options, and long-term care.

Retinoblastoma is a cancer of the retina, the innermost layer of the eye that receives the light and images necessary for vision. About 300 children are diagnosed with retinoblastoma each year, making it the most common eye cancer in children under the age of 5. And while a childhood cancer diagnosis is scary, of course, nearly all children with retinoblastoma can live long, healthy lives if the disease is diagnosed and treated early. At Stanford Children’s Health, our priorities are to save lives, save eyes and preserve your child’s vision as much as possible. Most children will have good vision in one or both eyes after receiving treatment for retinoblastoma.

Retinoblastoma usually occurs due to two mutations in a tumor suppressor gene called RB1. Forty percent of retinoblastoma cases are inherited, meaning one mutation was inherited from a parent and another mutation occurred during the development of the retina in utero. In sporadic retinoblastoma (60 percent of cases), both mutations can occur in utero, or one can occur in utero and one can occur as the retina develops.

Children with the inherited form of retinoblastoma are likely to have tumors involving both eyes. Genetic testing and counseling are a critical part of the treatment plan for families with inherited retinoblastoma. There may be additional health concerns related to this mutation that should be discussed on a case-by-case basis. Our genetic testing services provide the most modern and accurate identification of mutations available.

Retinoblastoma is often caught before children turn 2 years old. Children with retinoblastoma may experience different symptoms, or they may not experience any symptoms at all (especially when retinoblastoma is caught very early). Common symptoms include:

  • Leukocoria: A white-light reflex that occurs at certain angles when a light is shined into the pupil. There is an app, Cradle, that allows parents to detect white-light reflex in early photos of their children. While the app does not substitute for a doctor’s screening and diagnosis, it is a useful — and potentially life-saving — tool.
  • Strabismus (also called “wandering eye” or “lazy eye”): This condition is a misalignment of the eyes where one or both eyes do not appear to be looking in the same direction. While strabismus is not always a symptom of retinoblastoma, it is worth having your child’s doctor take a look if you notice it.
  • Poor vision, or a change in the child's vision.

Rarely, children with retinoblastoma may experience pain, redness or swelling of one or both eyes.

In addition to a complete medical and physical examination, diagnostic procedures for retinoblastoma may include a thorough eye examination, medical history, genetic testing and an examination under anesthesia. Ultrasounds, images of the eye and brain (with MRI scans), and blood tests may also be ordered. It is possible that a diagnosis can be made before symptoms are present.

We are one of the few children’s hospitals in the country to use intraoperative handheld optical coherence tomography, an imaging technology that allows our doctors to detect microscopic retinoblastoma tumors before they can be seen with standard examination techniques. This technology uses an integrated scanner and computer system that gives our doctors detailed views of the retina at a higher resolution than ultrasounds or MRI scanners. This technique can be performed on even the youngest infants, increasing the chances of early detection and improving our ability to preserve the eye, prevent the cancer from spreading and possibly save your child’s vision.

If a parent has a family history of RB1 mutations, the child is likely to have frequent eye examinations to rule out the presence of a tumor. If your child is newly diagnosed with retinoblastoma, he or she will have a complete evaluation by a pediatric eye cancer specialist and a pediatric oncologist who review and confirm every new diagnosis.

Most children with retinoblastoma can be successfully treated. The type of treatment depends on the extent of the disease within the eye, whether the disease is in one or both eyes, and whether the disease has spread beyond the eye.

At Stanford Medicine Children’s Health, our focus is on saving lives and vision. We always try to save your child's eye and vision as long as we can also deliver effective treatment to kill the cancer. Treatments are tailored for your child after careful discussion and coordination with a pediatric eye cancer specialist and a pediatric oncologist. Often multiple, different treatments will be needed over several years, depending on the extent and severity of your child’s specific cancer.

Chemotherapy, special medications used to attack and destroy the cancer cells, is the most common retinoblastoma treatment. Chemotherapy for eye cancer can be delivered in several ways. The most common delivery method is systemic chemotherapy, where specialized medications are delivered to the entire body. Typically, the treatment is for both eyes, but sometimes it can be for advanced disease in just one eye. In rare cases, our pediatric eye cancer specialists can deliver tiny quantities of chemotherapy directly into the eyeball to treat tumor cells that cannot be reached by systemic chemotherapy alone.

Intra-arterial chemotherapy

We use the newest form of retinoblastoma treatment called intra-arterial chemotherapy. This method delivers chemotherapy directly to the eye through the small arteries that feed the eyes. Intra-arterial chemotherapy allows the doctor to treat the exact area of the tumor with a higher concentration of the chemotherapy drugs while using a lower dosage than would be required for systemic chemotherapy.

Stanford Children’s Health was one of the first centers to offer this innovative life- and eye-saving therapy. Delivering injections into the tiny ocular arterial structures of pediatric patients takes exceptional precision, but our neurointerventional radiologists have mastered the advanced catheterization techniques and gentle delivery it takes to treat tiny, delicate eyes.

Other treatment options

Smaller tumors are typically treated with laser treatment or freezing treatment. Radiation therapy may also be used to treat larger tumors. Often, these treatments are used alongside chemotherapy. Rarely, in very advanced cases of retinoblastoma, enucleation surgery is required to remove the eye and save the patient’s life.

The course of retinoblastoma treatment we recommend always comes from a panel of doctors. The panel discusses your child's case and reviews the risks, benefits and potential outcomes of each treatment option with your family in an easy-to-understand way. We value your family as an important part of the treatment journey and strive to make the care experience as seamless as possible. Learn more about the resources available to your child and family.

Your child may also be eligible for a clinical trial. Clinical trials are designed to test new treatments and find better ways to treat children with cancer. We have several retinoblastoma clinical trials at any given time and we continue to try new drugs in novel combinations to improve the odds that a tumor will be killed while saving the eye and vision. To learn more about our clinical trials and other research, visit the Department of Ophthalmology’s website.

While it is unlikely, retinoblastoma can come back after treatment. Your child is at highest risk for recurrence until age 6, but retinoblastoma can even return later in life. We will carefully monitor your child to catch any recurrences at the earliest stages.

In cases of recurrence, treatment depends on the site and extent of the recurrence (or progression). If the cancer comes back only in the eye and is small, your child may need repeat chemotherapy, local freezing or laser treatments, radiation therapy, or even enucleation surgery. If the cancer comes back outside of the eye, treatment will depend on many factors and individual patient needs.

The long-term prognosis for children with retinoblastoma varies greatly depending on their unique medical history and response to treatment. Our expert team will be there for your child and your family to help you get the prompt medical attention, screenings, counseling, and treatment that greatly improve patient outcomes.

Continuous follow-up care is essential for children with retinoblastoma. Your child will be followed with very frequent eye exams until age 7, and then less frequently throughout the rest of his or her life. Your child will need regular follow-ups with a pediatric ophthalmologist, and our pediatric ophthalmology team can provide this ongoing care seamlessly.

If your child has hereditary retinoblastoma or was treated with certain chemotherapies, radiation therapies and some other therapies, he or she is at higher risk for new cancers later in life and should have regular medical and eye exams.

Our Health After Therapy (HAT) program offers long-term support, counseling and preventative care for survivors of childhood cancer, starting immediately after treatment. HAT also provides information about the potential late effects of treatment, and helps reinforce the importance of maintaining a healthy lifestyle after undergoing cancer therapy. When necessary, HAT will help your family select and establish care with medical providers closer to home.

In cases where retinoblastoma treatment or follow-up care continues into adolescence, the Stanford Adolescent and Young Adult Cancer (SAYAC) program provides holistic and continuous care for cancer patients between the ages of 15 and 21 in their transition to adult-oriented care.