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Retinoblastoma

Definition

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

Alternative Names

Tumor - retina; Cancer - retina

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

The health care provider will perform a complete physical exam, including an eye exam. The following tests may be done:

Treatment

Treatment options depend on the size and location of the tumor:

Outlook (Prognosis)

If the cancer has not spread beyond the eye, almost all patients 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 health care 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 of retinoblastoma. It is especially important when more than one family member has had the disease, or if retinoblastoma occurs in both eyes.

References

Dome JS, Rodriguez-Galindo C, Spunt SL, Santana VM. Pediatric sold tumors. In: Niederhuber JE, Armitage JO, Doroshow JH, et al., eds. Abeloff's Clinical Oncology. 5th ed. Philadelphia, Pa: Elsevier Churchill Livingstone; 2013:chap 95.

National Cancer Institute: PDQ Retinoblastoma Treatment. Bethesda, Md: National Cancer Institute. Date last modified: Dec. 6, 2013. Available at: http://cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional. Accessed: February 10, 2014.


Review Date: 2/10/2014
Reviewed By: Adam S. Levy, MD, Division of Pediatric Hematology/Oncology, The Children's Hospital at Montefiore, Bronx, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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