What Is Retinoblastoma?

Retinoblastoma is a malignant tumor of the eye. It affects the retina, the thin nerve tissue at the back of the eye. The retina senses light and makes images. Retinoblastoma mainly occurs in very young children, with 90% of cases diagnosed before the age of 4 years. It’s the most common eye cancer in children. Adults can rarely have it.

What Causes Retinoblastoma?

The cause is thought to be mutations in a gene called retinoblastoma-1 (RB1). These mutations can be passed from parents to children and result in hereditary retinoblastoma. New mutations lead to sporadic retinoblastoma. Hereditary retinoblastomas may form in one or both eyes and usually occur in younger children. Most that form in only one eye are not hereditary and more often occur in older children. Tumors in both eyes mean that the disease is almost always hereditary.

What Are the Signs and Symptoms of Retinoblastoma?

A white pupil that doesn’t reflect light is a major sign. Others are eyes that seem to look in different directions and eye redness and swelling.

How Is Retinoblastoma Diagnosed?

The ophthalmologist makes a diagnosis from the eye examination. An ophthalmologist is a specialist in diagnosing and treating eye diseases. Other tests are done to stage the tumor. Staging means finding out whether the tumor spread from the eye to nearby tissues or other parts of the body. Ultrasonography, computed tomography (CT), and magnetic resonance imaging (MRI) are used for this. Tumors may be intraocular or extraocular. Intraocular retinoblastoma means cancer in one or both eyes but not outside the eye. Extraocular retinoblastoma means cancer outside the eye.

How Is Retinoblastoma Treated?

Treatment depends on whether one or both eyes are affected and whether the disease has spread outside the eye. Enucleation, which is surgery to remove the whole eye, can be done. Radiation therapy uses high-energy X-rays to kill cancer cells and shrink tumors. Cryotherapy uses extreme cold to kill cancer cells. Photocoagulation uses laser light to destroy blood vessels taking nutrients to the tumor. Thermotherapy uses heat to kill cancer cells. Chemotherapy uses drugs to kill cancer cells. For intraocular retinoblastoma, if only one eye has large tumors, the eye is removed when vision cannot be preserved. Radiation, photocoagulation, cryotherapy, or thermotherapy may be used for smaller tumors when sight might be preserved. If both eyes have cancer, the eye with the most cancer may be removed and/ or radiation therapy is given to the other eye. If both eyes could have sight, both may have radiation therapy. Chemotherapy can also be used. Extraocular retinoblastoma needs radiation therapy and/or chemotherapy.

DOs and DON’Ts in Managing Retinitis Pigmentosa:
  • DO remember that retinoblastomas in both eyes means the inherited disorder. Family members should be examined and counseled and genetic testing done to find out their risk for the disease.
  • DO realize that the untreated cancer is almost always fatal. Early diagnosis is critical.
  • DON’T forget that a child who has hereditary retinoblastoma may also be at risk for a brain tumor during treatment of the eye tumor. This is called trilateral retinoblastoma.

Contact the following source:

  • National Cancer Institute
    Cancer Information Service
    Phone: 1-800-4-CANCER (1-800-422-6237)
  • American Academy of Ophthalmology
    Phone: 415-561-8500

Copyright © 2016 by Saunders, an imprint of Elsevier, Inc.

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