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  • Definition
    • Retinoblastoma is a rare, cancerous tumor of a part of the eye called the retina.

  • Alternative Names
    • Tumor - retina; Cancer - retina; Eye cancer - retinoblastoma

  • Causes
    • Retinoblastoma is caused by a mutation in a gene that controls how cells divide. As a result, cells grow out of control and become cancerous.

      In about half the cases, this mutation develops in a child whose family has never had eye cancer. In other cases, the mutation occurs in several family members. If the mutation runs in the family, there is a 50% chance that an affected person's children will also have the mutation. These children will therefore have a high risk of developing retinoblastoma themselves.

      The cancer most often affects children younger than 6 years old. It is most commonly diagnosed in children 1 to 2 years old.

  • Symptoms
    • One or both eyes may be affected.

      The pupil of the eye may appear white or have white spots. A white glow in the eye is often seen in photographs taken with a flash. Instead of the typical "red eye" from the flash, the pupil may appear white or distorted.

      Other symptoms can include:

      If the cancer has spread, bone pain and other symptoms may occur.

  • Exams and Tests
  • Treatment
    • Treatment options depend on the size and location of the tumor:

      • Small tumors may be treated by laser surgery or cryotherapy (freezing).
      • Radiation is used for both a tumor that is within the eye and for larger tumors.
      • Chemotherapy may be needed if the tumor has spread beyond the eye.
      • The eye may need to be removed (a procedure called enucleation) if the tumor does not respond to other treatments. In some cases, it may be the first treatment.
  • Outlook (Prognosis)
    • If the cancer has not spread beyond the eye, almost all people can be cured. A cure, however, may require aggressive treatment and even removal of the eye in order to be successful.

      If the cancer has spread beyond the eye, the likelihood of a cure is lower and depends on how the tumor has spread.

  • Possible Complications
    • Blindness can occur in the affected eye. The tumor can spread to the eye socket through the optic nerve. It may also spread to the brain, lungs, and bones.

  • When to Contact a Medical Professional
    • Call your provider if signs or symptoms of retinoblastoma are present, especially if your child's eyes look abnormal or appear abnormal in photographs.

  • Prevention
    • Genetic counseling can help families understand the risk for retinoblastoma. It is especially important when more than 1 family member has had the disease, or if retinoblastoma occurs in both eyes.

  • References
    • Augsburger JJ, Bornfeld N, Correa ZM. Retinoblastoma. In: Yanoff M, Duker JS, eds. Ophthalmology. 4th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 8.1.

      Karcioglu ZA, Haik BG. Eye, orbit, and adnexal structures. In: Niederhuber JE, Armitage JO, Doroshow JH, Kastan MB, Tepper JE, eds. Abeloff's Clinical Oncology. 5th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 67.

      National Cancer Institute: PDQ childhood astrocytomas treatment. Bethesda, MD: National Cancer Institute. Date last modified August 14, 2015. Accessed: January 19, 2016.