EYE CARE :: Eye Disorders
What is retinoblastoma?
Retinoblastoma is a rare cancer of the retina. The retina is the innermost layer of the eye, located at the back of the eye, which receives light and images necessary for vision.
About 250 children in the US are diagnosed with this type of cancer each year. It accounts for 3 percent of childhood cancers. Retinoblastoma cells can, in rare cases, spread (metastasize) to other areas of the body, including the bone marrow.
What causes retinoblastoma?
Retinoblastoma occurs due to mutations in a tumor suppressor gene (called RB1) located on chromosome #13. Two mutations (or gene changes) are necessary to "knock-out" this gene, and cause uncontrolled cell growth. In inherited retinoblastoma (40 percent of the cases), the first mutation is inherited from a parent, while the second occurs during the development of the retina. In sporadic retinoblastoma (60 percent of the cases), both mutations occur during development of the retina. Sporadic means "occurs by chance." Alterations in the RB1 gene have also been found in other tumors, including osteosarcoma and breast cancer.
Most children with inherited retinoblastoma generally have tumors involving both eyes. (In fact, all cases involving both eyes should prompt an investigation for a hereditary cause). The RB1 gene is an autosomal dominant gene, which means that both males and females are equally affected, and there is a 50/50 chance, with each pregnancy, for a genetically affected parent to transmit the gene to a child. When a child inherits the gene, there is a 75 to 90 percent chance for the second mutation to occur, resulting in retinoblastoma. This means that some children who inherit the mutation may never get the second mutation, and may, therefore, never develop retinoblastoma. (They can still transmit the gene to their offspring, however, so that their children could develop the disease.)
Consider the following statistics:
Any individual with a positive family history of retinoblastoma should seek genetic counseling to identify the specific risks of passing the gene or disease to their children.
What are the symptoms of retinoblastoma?
The following are the most common symptoms of retinoblastoma:
Often the symptoms may not appear if the disease is diagnosed early. The symptoms of retinoblastoma may resemble other conditions or medical problems. Always consult your child's physician for a diagnosis.
How is retinoblastoma diagnosed?
In addition to a complete medical and physical examination, diagnostic procedures for retinoblastoma may include:
A diagnosis may be made before symptoms are present. If a family history is positive for retinoblastoma, frequent eye examinations may be necessary at many stages of the child's development to determine the presence of any tumor. When retinoblastoma is diagnosed, tests will be performed to determine the size, number, location of the tumors, and if the tumors have spread to the other parts of the body. This is called staging and is an important step toward planning a treatment program.
Treatment for retinoblastoma:
Treatment may include one or more of the following:
Rehabilitation may include:
Long-term outlook for a child with retinoblastoma:
Prognosis greatly depends on:
As with any cancer, prognosis and long-term survival can vary greatly from child to child. Every child is unique and treatment and prognosis is structured around the child's needs. Prompt medical attention and aggressive therapy are important for the best prognosis.
Continuous follow-up care is essential for a child diagnosed with retinoblastoma. Secondary cancers have a high incidence among survivors of retinoblastoma. These secondary cancers are not a relapse or recurrent retinoblastoma, but are primary tumors (brand new tumors) of other organs. The most common secondary cancer is osteosarcoma (cancer of the bone). However, retinoblastoma has been linked to melanoma, breast, lung, bladder, and other types of cancers much later in life.
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It is important to remember the health information found on this website is for reference only not intended to replace the advice and guidance of your healthcare provider. Always seek the advice of your physician with any questions you may have regarding a medical condition. If you think you may have a medical emergency, call your physician or 911 immediately.
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