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  • Rare Childhood Eye Cancer Cases on the Rise

    Reviewed By Brian P Marr, MD
    Published Mar. 15, 2022

    Good news: More people with the rare eye cancer known as retinoblastoma are beating the disease than ever before. Progress in the diagnosis and treatment of this rare cancer has improved survival rates, particularly in developed countries.

    At the same time, inherited retinoblastoma is becoming more common. A recent study revealed that retinoblastoma cases in Europe have increased from 1 of every 15,000-18,000 live births to 1 of every 14,000 live births. Experts believe cases in the US are likely seeing a similar swell.

    Although this increase is small (less than one thousandth of a percent), it’s important to notice the change. As more patients outlive the disease and give birth to their own children, they need to be aware of the risk of passing retinoblastoma on to future generations. 

    Retinoblastoma in Children

    Retinoblastoma is cancer of the eye that begins in the retina, the light-sensing layer of tissue near the optic nerve.

    It most often affects infants and children younger than age 5. Girls and boys of all ethnicities are equally affected. About 200 to 300 children are diagnosed with retinoblastoma each year in the United States.

    Children are much more likely to develop the condition if their parent had congenital retinoblastoma. But most cases are not inherited, and it's not clear what else increases a child's risk of developing the disease.

    Early Diagnosis of Retinoblastoma Saves Lives

    Early diagnosis and treatment are essential to preserve vision and stop the spread of retinoblastoma beyond the eye. Treatment varies based on the tumor and whether the cancer has extended to other parts of the body. Major advances in oncology over the last decade have improved prognosis. In the US, the survival rate for retinoblastoma is well above 90%.  

    “Treatments have evolved from necessary eye removal to whole-body chemotherapy to chemo targeted to the artery supplying blood to the eye," says Brian Marr, MD, Ophthalmic Oncology Service at the Harkness Eye Institute. “Today, chemotherapy can be directed straight into the eye itself. As a result, not only are more people surviving and more eyes being saved, but also survivors’ quality of life is improving.”

    Benefits of Genetic Counseling for Retinoblastoma Survivors

    As more people outlive retinoblastoma, it’s important for them to receive genetic testing and counseling when they decide to have children.

    “Children who survive the heritable form of retinoblastoma have up to a 50-50 chance of passing it on to their offspring. I like to begin educating my patients about this as soon as they become teenagers and enter their reproductive years, so they can make informed decisions about family planning and prenatal detection,” said Dr. Marr.

    Genetic testing can identify the cause of retinoblastoma. That information can be used to screen other family members, including parents, siblings and the patient's future children.