Retinoblastoma

Retinoblastoma is a rare but serious eye cancer that mostly affects young children. Hearing your child has cancer can be scary, but early treatment can help protect their vision and overall health. 

At Banner Health, our pediatric specialists are experts in diagnosing retinoblastoma. Read on to learn more about the causes, signs, diagnosis and treatment options for this rare eye cancer.

What is retinoblastoma?

Retinoblastoma is an eye cancer that mostly affects kids under 5. It starts in the retina, the part of the eye that senses light. Normally, cells in the retina grow and die in an orderly way. But with retinoblastoma, the cells grow uncontrollably and form a tumor, which can harm vision.

This type of cancer can happen in one (unilateral) or both eyes (bilateral).

What causes retinoblastoma?

Retinoblastoma is caused by a mutation in a gene called RB1. This happens mostly by chance (sporadic) but sometimes the changed gene is passed down (inherited) from a parent. 

Sporadic (non-genetic) retinoblastoma

Most cases of retinoblastoma happen randomly, meaning a child is not born with the gene change. Mutations in the RB1 gene are found only in the eye tumor cells, not every cell of the body. Sporadic retinoblastoma usually affects one eye.

Genetic (inherited) retinoblastoma

Genetic retinoblastoma occurs when a child is born with a mutation in the RB1 gene. The mutation affects all body cells, not just the eye. This type of retinoblastoma can affect one or both eyes. Children with this type have a higher risk of developing other cancers later in life. 

Signs and symptoms of retinoblastoma

Young children may not be able to tell when something is wrong. Here are some signs to watch for:

• White eye reflex (leukocoria): The most common early sign of retinoblastoma is a white or off-white glowing spot in the eye called leukocoria. This can be seen when light shines into the eye, like from a flash photo. It may look like the eye is glowing. Leukocoria happens when the tumor blocks the normal reflection of light from the eye’s retina. 
• Red, swollen eyes: The eye may appear red or swollen and there may be an increase in eye discharge. This could be due to the tumor or the body’s response to cancer.
• Vision problems: Children with retinoblastoma may have trouble seeing clearly or focusing. This could happen if the tumor is blocking part of the retina.
• Eye pain: Retinoblastoma can sometimes cause eye pain, though this is not always a sign.
• Enlarged or bulging eye (proptosis): As the tumor grows, it can push against the internal structures of the eye, changing its shape and size. The eye may appear larger or bulging and look uneven compared to the other eye.
• Crossed eyes (Strabismus): Strabismus is when the eyes don’t look in the same direction at the same time. One eye may turn inward or outward, which can happen if the tumor affects the muscles around the eye. 

These symptoms can also be signs of other health problems. If you notice any of these signs, see your child’s health care provider or a Banner Health specialist right away.

How is retinoblastoma diagnosed?

A health care provider will do a full eye exam. They may refer your child to a pediatric ophthalmologist, a doctor specializing in children's eye conditions. During the exam, the provider will use special tools to look inside the eye and check for any tumors or abnormal changes. 

In some cases, they may use imaging tests, such as an ultrasound, MRI or CT scan, to get a better view of the eye and any tumors. DNA and/or genetic testing may also be done to tell if your child has an inherited form of the disease.

A biopsy, which is the removal of a small sample of tissue to test for cancer, is usually not needed for retinoblastoma. Providers can often diagnose retinoblastoma through imaging.

Treatment options for retinoblastoma

Treatment depends on the size and location of the tumor. The goal of treatment is to destroy the cancer while preserving your child’s vision as much as possible.

The main treatment options include:

• Chemotherapy: Medicine that shrinks or kills cancer cells. It can be given through an IV line inserted into your child’s arm or leg. Chemotherapy can also be put into an artery near the eye (intra-arterial chemotherapy) or injected directly into the eye (intravitreal chemotherapy) to shrink the tumor or prevent it from spreading. 
• Laser therapy: Uses heat to destroy cancer cells in the eye. This is often used for smaller tumors or those located in parts of the eye that are hard to reach. Treatments are usually repeated every few weeks until there are no signs of active cancer in the eye. 
• Cold therapy (cryotherapy): Freezes and kills cancer cells. It’s often used after chemotherapy for small tumors at the back of the eye.
• Radiation therapy: Uses high-energy rays to destroy cancer cells. This might be used when the tumor is too large to be treated with other methods. 
• Eye removal surgery (enucleation): If the tumor is too large, removing the eye may be necessary. After removing the eye, your child will be fitted with an ocular implant and, later, an artificial eye. 

Treatment for retinoblastoma is personalized to your child’s condition. Your provider will work closely with you to choose the best options. The goal is to remove the cancer, save vision and protect your child’s overall health.

What if it is not treated?

Like any cancer, retinoblastoma can cause problems, especially if it is not diagnosed and treated early. Some of the possible complications include:

• Vision loss
• Cancer spreading to other parts of the body (metastasizing)
• Eye damage or loss
• Increased risk of future cancers

Life after retinoblastoma

Most children recover well and can live healthy lives. They may need regular checkups to ensure the cancer doesn’t return. If an eye is removed, a prosthetic eye can help restore appearance and confidence.

Throughout your child’s treatment and recovery, seek support for your family. Join a support group for families dealing with cancer. Let your child connect with others who understand their experience, helping them feel less isolated during their journey.

When to see a specialist

If you notice changes in your child’s eyes or vision, don’t wait. Early diagnosis can save vision and lives. Schedule an appointment with a Banner Health specialist today.