Retinoblastoma is a rare type of eye cancer that begins in the retina, the layer of tissue that senses light and sends pictures to the brain. Most cases of retinoblastoma are discovered before the child is two years old. Retinoblastoma is often first noticed as a white, irritated pupil or "red eye" in the child. The disease usually progresses to other parts of the eye, head, brain, spine, or distant parts of the body.
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Retinoblastoma treatments are based on the stage and location of the cancer. If cancer is found outside of the eye, radiation therapy or chemotherapy may be given. If cancer has spread outside the eye, surgery may be necessary. If the cancer has spread to the brain or spinal cord, it may require a bone marrow transplant. It can also affect the nerves surrounding the eye.
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Retinoblastoma treatment involves surgery and chemotherapy. Chemotherapy is a form of treatment in which medications are given to kill the cancer cells. It is given by mouth, through injection, or into a muscle. Chemotherapy can shrink tumors before other treatments are applied. In some cases, a tumor may spread to the brain and can only be treated using intrathecal chemotherapy.
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A white pupil is one of the most common symptoms of retinoblastoma. It can be observed in photos taken with a flash. However, this sign alone is not conclusive. For proper diagnosis, an ophthalmologist must be seen. If you're concerned about a symptom, seek medical attention immediately. When there's no other cause, the disease may be a side effect of another condition.
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Other symptoms of retinoblastoma include a "white pupil." A white pupil means that the retina of the eye has cancer cells. Your child may also be seeing a white pupil in dim light and/or a cloudy-colored pupil. Depending on the severity of your child's symptoms, the symptoms can be difficult to differentiate from other eye diseases. The center circle of the eye may be white in color and will be most noticeable in photographs.
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Regular eye exams are crucial for children at risk for retinoblastoma. Eye exams are important to detect the disease early and prevent it from progressing. If diagnosed early, it may require less aggressive treatments. The eye doctor and the child should discuss the type of eye exam that the child should have and how often it should be conducted. While retinoblastoma is hereditary, early detection of the condition will prevent further complications and death.
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Treatment for retinoblastoma involves removing the affected eye and part of the optic nerve. A sample of tissue is obtained from the eye and examined to determine whether the cancer has spread elsewhere in the body. Retinoblastoma treatment is highly personalized and can vary dramatically between affected individuals. In some cases, treatment can save the eye or vision. The treatment may be aggressive, such as laser surgery, or less aggressive.
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If the cancer has spread beyond the eye, the doctor will perform a diagnostic test called MRI. This test involves radio waves and a magnet to make detailed pictures of the eye and its surrounding tissues. In some cases, the cancer may have spread outside the eye and may be recurrent. However, in most cases, treatment for retinoblastoma does not cause any serious complications or side effects.
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Retinoblastoma may spread to other parts of the eye or brain. In some cases, it can block fluid flow inside the eye, causing pressure that eventually damages the optic nerve. Retinoblastoma can affect both eyes or one. Although most retinoblastomas are caught early, they may spread to other parts of the body, including the bone marrow. Once the cancer has spread, treatment becomes more difficult.
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Retinoblastoma is caused by mutations in the RB1 gene. A faulty copy of the gene causes the tumors. The cancerous cells will multiply and invade nearby structures, including the brain and spine. Sometimes, they can spread to other parts of the body, which is why it is so important to get diagnosed early. This disease is very difficult to detect in young children, but the sooner you have it, the better.
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A healthcare provider will usually first make a visual diagnosis, or perform a fundoscopic eye exam, to look at the retina. This involves putting the child under general anesthesia, making them unconscious. Afterward, the retina is viewed with a microscope through a special instrument called an ophthalmoscope. Depending on the age of the child, a general anesthesia may be necessary.
