Retinoblastoma is a very rare childhood cancer that forms in the tissues of the retina. It can occur in one or both eyes. Most cases of retinoblastoma are not inherited, but some are, and children with a family history of the disease should have their eyes checked beginning at an early age. Explore the links on this page to learn more about retinoblastoma treatment and clinical trials.
- Retinoblastoma is a disease in which malignant (cancer) cells form in the tissues of the retina.
- Children with a family history of retinoblastoma should have eye exams to check for retinoblastoma.
- Retinoblastoma occurs in heritable and nonheritable forms.
- A child who has heritable retinoblastoma has an increased risk of trilateral retinoblastoma and other cancers.
- Genetic testing can determine whether a child has the heritable or nonheritable form of retinoblastoma.
- Signs and symptoms of retinoblastoma include “white pupil” and eyes that appear to be looking in different directions (crossed eyes).
- Tests that examine the retina are used to diagnose retinoblastoma.
- Certain factors affect prognosis (chance of recovery) and treatment options.
Retinoblastoma is a disease in which malignant (cancer) cells form in the tissues of the retina.
The retina is made of nerve tissue that lines the inside wall of the back of the eye. It receives light and converts the light into signals that travel down the optic nerve to the brain. The brain decodes the signals so that you can see the image.
Retinoblastoma may be in one eye (unilateral) or in both eyes (bilateral). Cavitary retinoblastoma is a rare type of retinoblastoma in which cavities (hollow spaces) form within the tumor.
Although retinoblastoma may occur at any age, it occurs most often in children younger than 2 years.
Retinoblastoma occurs in heritable and nonheritable forms.
A child is thought to have the heritable (inherited) form of retinoblastoma when there is a certain mutation (change) in the RB1 gene. The mutation in the RB1 gene may be passed from the parent to the child, or it may occur in the egg or sperm before conception or soon after conception.
Other factors that suggest the child may have the heritable form of retinoblastoma include the following:
- There is a family history of retinoblastoma.
- There is more than one tumor in the eye.
- There is a tumor in both eyes.
After heritable retinoblastoma has been diagnosed and treated, new tumors may continue to form for a few years. Regular eye exams to check for new tumors are usually done every 2 to 4 months for at least 28 months.
Most cases of retinoblastoma are the nonheritable form. Nonheritable retinoblastoma is not passed down from parents. This type of retinoblastoma is caused by mutations in the RB1 gene that occur by chance after a child is born. Nonheritable retinoblastoma usually occurs in one eye.
A child who has heritable retinoblastoma has an increased risk of trilateral retinoblastoma and other cancers.
A child with heritable retinoblastoma has an increased risk of a pineal tumor in the brain. When retinoblastoma and a brain tumor occur at the same time, it is called trilateral retinoblastoma. The brain tumor is usually diagnosed between 20 and 36 months of age. Regular screening using MRI (magnetic resonance imaging) may be done for a child thought to have heritable retinoblastoma or for a child with retinoblastoma in one eye and a family history of the disease. CT (computerized tomography) scans are usually not used for routine screening in order to avoid exposing the child to ionizing radiation.
Heritable retinoblastoma also increases the child’s risk of other types of cancer such as lung cancer, bladder cancer, or melanoma in later years. Regular follow-up exams are important.