Because the condition is typically diagnosed before age 3, children often can’t describe their symptoms or what they’re experiencing. Instead, the symptoms are visible changes in eye appearance or differences in how your child behaves V体育平台登录.
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The earliest and most common symptom of retinoblastoma is the pupil of your eye appearing white (leukocoria) or pale-colored in certain settings, especially seen in photos taken in dim places that also use a flash for illumination. It can happen in one or both eyes VSports注册入口.
While retinoblastoma commonly happens in children before they can talk, there are also other signs and symptoms that can signal its development, including:
Retinoblastoma is a type of cancer where retinal cells malfunction and start to multiply uncontrollably VSports在线直播. As they do, they can form tumors and damage surrounding tissues. If they keep growing unchecked, eventually, those malfunctioning cells spread (metastasize) beyond the original tumor, and cancer appears in other places in your body.
The malfunction that causes healthy cells to turn into retinoblastoma starts in your DNA.
Your cells use DNA like a cookbook. You inherit DNA from both of your biological parents, so it’s like they each give you part of their cookbook, so you can make a full cookbook of your own.
But sometimes, you can have an error in your DNA. Your cells only know how to follow the recipes in the book exactly, so a DNA error means your cells only know how to make the recipe incorrectly. That can cause those cells to grow and multiply uncontrollably.
Experts recommend genetic testing and counseling for children with retinoblastoma regardless of whether or not it was inherited. They also recommend testing for biological siblings and other family members.
The mutation that causes retinoblastoma affects RB1, a tumor suppressor gene. Tumor suppressor genes are responsible for normal development of the tissues (retina). They act like brakes and control cell reproduction and growth processes. A mutation in RB1 means your retinal cells can grow uncontrolled into a tumor. Retinoblastoma can also happen with “deletion” of chromosome 13p, which is the location of the RB1 gene.
In rare instances, people can have a benign retinal growth called a retinoma. These are like precursors to retinoblastoma, but they stop growing for some reason. Later in life, a retinoma may start growing again and turn into retinoblastoma.
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There are two main ways that DNA errors that cause retinoblastoma can happen:
Inheriting a gene mutation also determines what form of retinoblastoma your child has. Inherited cases are usually bilateral and less often unilateral.
A sibling of a child with retinoblastoma also has an increased chance of developing it. When both parents are unaffected by retinoblastoma, biological siblings of the affected child have a 4% to 7% risk of having retinoblastoma, too.
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Retinoblastoma can damage surrounding tissues. It can cause partial or total blindness in the affected eye(s).
Because it’s a type of cancer, there’s also a risk of retinoblastoma spreading (metastasizing) to other parts of your body. Once it does, it becomes even more dangerous, so preventing that spread is a key part of treatment. One dangerous way it can spread is through the optic nerve to your brain, where it becomes a new brain cancer tumor.
The genetic mutations that can cause retinoblastoma also increase your risk of developing other types of cancer. There’s a 1% cumulative risk per year of developing another cancer (for example, about 20% at 20 years).
The most likely cancers are:
Parents (or caregivers) may be the first to see leukocoria and tell their child’s pediatrician, who can then also look for it. A pediatrician (or another healthcare provider with a similar role) can confirm leukocoria during an exam, or they might see leukocoria during routine physical exams that monitor child development.
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Once a pediatrician sees leukocoria, the next step is usually an urgent referral to an ophthalmologist or other eye care specialist. An eye specialist will try to see retinoblastoma directly by looking at the eye’s interior. For young children, that may involve using medicated drops to dilate their pupils or doing an eye exam under anesthesia.
Imaging scans are likely, as these can look for harder-to-see tumors in the other eye or corresponding tumors in the brain (like pineoblastoma).
Imaging scans they might use include:
There are multiple ways to treat retinoblastoma. Often, treatment involves a combination of methods. They can happen simultaneously or in sequence. The treatment methods include (but aren’t limited to):
The outlook for retinoblastoma depends strongly on how long it takes to diagnose and treat it, but the odds, in general, are very good. The overall survival rate for pediatric retinoblastoma is 95%. The odds of a good outcome — including avoiding loss of vision — are best with a diagnosis before age 2.
People who survive retinoblastoma will need lifelong surveillance for new cancers. This usually involves yearly scans or other tests that can detect new tumors. Your provider can tell you what surveillance measures they recommend for your case.
Retinoblastoma happens because of genetic mutations, so there’s no way to prevent it entirely. If you have a family history of retinoblastoma or know you carry a genetic mutation that causes it, genetic counseling can help you understand the risk of passing it on to a biological child.
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.
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.
Your eyes are one of your most important senses. If something goes wrong, it can change your world. Cleveland Clinic can help treat all types of retinal disease.
Last reviewed on 09/29/2023.
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