What is retinoblastoma?

What is retinoblastoma?

Retinoblastoma is a malignant (cancerous) tumor of the retina. The retina is the thin nerve tissue that lines the back of the eye that senses light and forms images.

Although retinoblastoma may occur at any age, it most often occurs in younger children, usually before the age of 5 years. The tumor may be in one eye only or in both eyes. Retinoblastoma is usually confined to the eye and does not spread to nearby tissue or other parts of the body. Your child’s prognosis (chance of recovery and retaining sight) and choice of treatment depend on the extent of the disease within and beyond the eye.

This disease is caused by mutations in a gene called the Retinoblastoma-1 (RB1) gene. These mutations are either inherited (passed from the parents to the children) or new (not passed from the parents to the children) mutations. Some new mutations may become "inherited" (the new mutation is passed from the parents to the children). Tumors caused by inherited mutations are called hereditary retinoblastomas. Tumors caused by new mutations are called sporadic retinoblastomas. Hereditary retinoblastomas may form in one or both eyes, and they are generally found in younger children. Most retinoblastomas that form in only one eye are not hereditary, and they are found more often in older children. When tumors form in both eyes, the disease is almost always hereditary. Because of the hereditary factor, patients and their brothers and sisters should have periodic examinations, including genetic counseling, to determine their risk for developing the disease.

A child who has hereditary retinoblastoma may also be at risk of developing a tumor in the brain while they are being treated for the eye tumor. This is called trilateral retinoblastoma, and patients should be periodically monitored by the doctor for the possible development of this rare condition during and after treatment. If your child has retinoblastoma, particularly the hereditary type, there is also an increased chance that he or she may develop other types of cancer in later years. Parents may therefore decide to continue taking their child for medical check-ups even after the cancer has been treated.

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