Retinoblastoma is a type of pediatric cancer that develops on the retina in the eye. Your retina works with your brain to help you see. The retina is located in the back of your eye. It has layers of cells that sense light and send information to your brain.
Retinoblastoma almost always develops in children under age 5. Retinoblastoma treatments include cryotherapy, chemotherapy, radiation and surgery. The outlook depends on several factors, including the tumor’s size and location and whether the cancer has spread. If the tumor hasn’t spread beyond the eye, most children with retinoblastoma live cancer-free after treatment.
Retinoblastoma is very rare. About 200 to 300 children are diagnosed with retinoblastoma every year. It affects boys and girls equally.
Most often, the condition affects one eye. In about a quarter of cases, both eyes are affected.
Healthcare providers classify retinoblastoma using a process called staging. They consider the tumor’s location and whether it has metastasized (spread) to other parts of the body, such as the brain, bones or organs. Most retinoblastoma tumors are detected before they spread to the rest of the body.
Your child’s team of providers uses staging information to select the most appropriate treatment plan. Retinoblastoma stages include:
A genetic mutation (a change in the child’s genes) causes retinoblastoma. The gene that causes retinoblastoma is called RB1. The mutation causes cells in the eye to grow uncontrollably, forming a tumor. Around 40% of the time, the child inherits the RB1 mutation from a parent (heritable retinoblastoma). In about 60% of cases, the gene change occurs spontaneously. In those cases, healthcare providers aren’t sure what caused the genetic mutation (nonheritable retinoblastoma).
About 60% of children with heritable retinoblastoma will develop tumors in both eyes (bilateral) and 30% develop a tumor only in one eye. The remaining 10% of children may not develop retinal tumors, but are carriers of the gene. In children who develop tumors in both eyes, the tumors may form at the same time or they can grow months or years apart. Children who have nonheritable retinoblastoma develop tumors in only one eye (unilateral).
Most often, the first sign of retinoblastoma is a change in the way the eye looks. Symptoms can affect one eye or both eyes. Retinoblastoma symptoms include:
Healthcare providers usually diagnose retinoblastoma with a specialized eye examination. During the exam, your child will be under general anesthesia. Your child receives medicine through a vein and sleeps throughout the exam. The eye doctor uses instruments and lights to look at the retina.
Your child’s provider may also perform imaging studies or other tests to see if the cancer has spread to other parts of the body. These tests include:
Treatments vary based on the stage of the disease. Your child’s team of providers will consider whether cancer is only in the eye (intraocular retinoblastoma). Treatments may be different if it has spread to other parts of the body (extraocular retinoblastoma). Retinoblastoma treatments include:
It’s not possible to prevent nonheritable retinoblastoma.
If you or your partner had retinoblastoma as a child, you have a 50% chance of passing the condition to your children. If you have a family history of retinoblastoma or have the RB1 gene change, you may want to consider genetic testing before having children. Children with a family history of retinoblastoma should get regular eye exams starting at birth. It’s important to detect and diagnose retinoblastoma early. Early diagnosis can significantly improve the prognosis. Catching cancer early may prevent loss of vision.
With treatment, children who have retinoblastoma that has not spread to other parts of the body have a 96.5% survival rate at 5 years. Cancer specialists measure cancer outlook by the five-year survival rate. For kids with more advanced retinoblastoma, the outlook varies. The prognosis depends on whether the cancer has spread to the brain and spinal cord.
Children with heritable retinoblastoma have a higher risk of developing another type of cancer later in life. Later cancer is most often cancer of the bones (osteosarcoma). If cancer develops after retinoblastoma, it usually appears within 30 years after treatment.
Follow-up care is essential after your child has finished treatment for retinoblastoma. Through regular checkups, your child’s provider can check if cancer has returned. They can also detect new tumors and monitor your child for side effects of treatment.
Children who had surgery to remove an eye will receive a prosthetic (fake) eye, which is almost like a big contact lens. A prosthetic eye looks natural. It isn’t painful to wear, but it may take some time for your child to get used to it. Your child’s provider will teach you and your child how to care for the prosthetic eye. You’ll have regular visits to make sure it fits properly.
Call your provider if you notice any signs of retinoblastoma or changes in your child’s eyes or vision. Talk to your provider if you or your partner has a family history of retinoblastoma or you know you have the RB1 gene mutation. You may want to consider genetic counseling before having children.
If you have a family history of retinoblastoma, be sure to schedule regular eye exams for your child and other family members. The RB1 gene that causes retinoblastoma can also cause retinocytoma, a benign (noncancerous) eye tumor. Retinocytoma can develop in people of all ages.
A note from Cleveland Clinic
Receiving a cancer diagnosis is life-changing. But there is hope. Researchers and healthcare providers continue to develop promising treatments that improve the outlook for children with this type of cancer. If your child has retinoblastoma, you may want to consider participating in a clinical trial for new treatments. Talk to your provider about joining a cancer support group. Many parents and families find that support groups offer hope and encouragement.
Last reviewed by a Cleveland Clinic medical professional on 01/15/2021.