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Retinoblastoma

What is retinoblastoma?

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 the patient’s vision as much as possible. Most children will have good vision in one or both eyes after receiving treatment for retinoblastoma.

What causes 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.

What are the symptoms of retinoblastoma?

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.

How is retinoblastoma diagnosed?

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 the patient’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. All of our patients who are newly diagnosed with retinoblastoma will have a complete evaluation by a pediatric eye cancer specialist and a pediatric oncologist who review and confirm every new diagnosis.

For all other ocular and orbital oncology conditions, please visit Stanford Health Care >

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