Retinoblastoma is a rare type of genetic eye cancer that occurs in young children. Small tumors develop in the retina, which is located at the back of the eye. The retina sends visual images to the brain where they are perceived. These tumors may cause the pupils to appear white instead of black. Although most people only have retinoblastoma in one eye, sometimes tumors develop in both eyes.
About 25% of cases are inherited or passed down from parents to their children. The other 75% of cases are caused by a random genetic mutation that occurs during the development of the egg, sperm, or embryo.
If left untreated, retinoblastoma may be fatal. This is because tumors may spread to the brain via the optic nerve. Brain tumors, called pinealoma, are most likely to occur in the hereditary form of retinoblastoma. In addition, people with hereditary retinoblastoma have an increased risk of developing bone cancer (called osteosarcoma), soft tissue cancers, melanoma, and other types of cancer.
Factors, such as age, gender, race, and ethnicity, do not increase a person's risk of developing retinoblastoma. On average, retinoblastoma affects about one person out of 18,000-30,000 live births worldwide. Researchers estimate that about one out of 15,000-16,000 people are born with retinoblastoma in both the United States and northern Europe. An estimated 250-500 new cases of retinoblastoma are diagnosed each year in the United States.
Retinoblastoma may be treated with radiation, chemotherapy, and/or surgery. Sometimes the eye may need to be removed. The cancer is successfully treated in 86-93% of cases. If the condition is effectively treated, people can expect to live long, healthy lives.
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