Retinoblastoma
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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 controlling cell division, causing cells to grow out of control and become cancerous.

In a little over half of the cases, this mutation develops in a child whose family has never had eye cancer.

Other times the mutation is present 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. They will therefore have a high risk of developing retinoblastoma themselves.

The cancer generally affects children under the age of 6. It is most commonly diagnosed in children aged 1 - 2 years.

Symptoms

One or both eyes may be affected.

They pupil 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:

  • Bone marrow biopsy and cerebrospinal fluid examination in the case of more aggressive tumors
  • CT scan or MRI of the head
  • Eye exam with dilation of the pupil
  • Ultrasound of the eye (head and eye echoencephalogram)

Treatment

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

  • Small tumors may be treated by laser surgery or cryotherapy.
  • Radiation is used for both local tumor 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 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 the retinoblastoma occurs in both eyes.

References

Dome JS, Rodriguez-Galindo C, Spunt SL, Santana VM. Pediatric sold tumors. In: Abeloff MD, Armitage JO, Niederhuber JE, Kastan MB, McKenna WG, eds. Abeloff's Clinical Oncology. 4th ed. Philadelphia, Pa: Elsevier Churchill Livingstone; 2008:chap 99.

Zage PE, Herzog CE. Retinoblastoma. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 496.



Review Date: 2/7/2012
Reviewed By: Linda J. Vorvick, MD, Medical Director and Director of Didactic Curriculum, MEDEX Northwest Division of Physician Assistant Studies, Department of Family Medicine, UW Medicine, School of Medicine, University of Washington; and Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.
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. 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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