Retinoblastoma

We understand that you may have a lot of questions when your child is diagnosed with retinoblastoma, including:

• What is it?
• What can we do about it?
• How will it affect my child long-term?

We’ve provided some answers to these questions here, and when you meet with our experts, we can talk with you more about your child’s diagnosis and treatment.

What is retinoblastoma? 

Retinoblastoma is a cancerous tumor in the retina (nerve tissue lining the inside of the back part of the eye).

How common is retinoblastoma?

Retinoblastoma is pretty rare—about 300 children in the United States are diagnosed each year. Kids with retinoblastoma are mostly under 5, and the majority of cases occur before the child turns 2. It’s equally common in boys and girls.  

Will both of my child’s eyes be affected?

It’s not likely—between 70 and 75 percent of the time, only one eye is affected (unilateral). This type of retinoblastoma usually isn’t inherited, but when it is, there’s a chance that it may develop later in the other eye. That’s why children who have been diagnosed with retinoblastoma in one eye should have follow-up exams to monitor the other eye every two to four months for at least 28 months, unless it’s known to not be inherited. 

Retinoblastoma in both eyes (bilateral) is always inherited.  

Will it spread to other organs of my child’s body?

It’s rare but possible that retinoblastoma cells spread (metastasize) to other areas of the body, including the bone marrow.

Should other members of my family be tested for retinoblastoma?

Since retinoblastoma is overwhelmingly a tumor that affects children, it’s extraordinarily rare that a parent would be diagnosed with retinoblastoma after his or her child were diagnosed. Siblings of a child with retinoblastoma have around a 45 percent chance of developing it too, and should be evaluated regularly by an ophthalmologist until they’re 5 or 6.

What is the expected outcome after treatment?

With prompt and aggressive treatment, most children with retinoblastoma are successfully treated with a combination of chemotherapy, radiation, laser therapy or surgery.

Will my child be blind?

Each child’s case is different, but the long-term outlook for vision often depends on the size and location of the tumor and on the effectiveness of treatment. Having a retinoblastoma in one eye rarely affects vision in the other eye.

Where will my child be treated?

Children treated through Dana-Farber/Children’s Hospital Cancer Center receive their outpatient care at the Jimmy Fund Clinic, which is located on the third floor of the Dana Farber Cancer Institute. If your child needs to be admitted to the hospital, she’ll stay at Children’s Hospital Boston, on the ninth floor of the Berthiaume building.

Causes

Retinoblastoma is genetic, which means that it’s caused by a mutation in a gene. This mutation prevents the body from making certain proteins that stop too many cells from building up in one place—in other words, from forming a tumor.

About 70 to 75 percent of the time, this mutation develops in a family with no history of eye cancer. This is known as “sporadic retinoblastoma,” and usually only one eye is affected.

But I thought you said that retinoblastoma was genetic?

It is – it’s a common misconception that “genetic” always means “inherited.” In fact, “genetic” only means “caused by genes,” which can (and often does) mean genes that were inherited, but it can also mean genes that mutated spontaneously on their own.  

About 25 to 30 percent of the time, retinoblastoma is inherited. In children with inherited retinoblastoma, both eyes are often affected.

Signs and symptoms

Symptoms usually tend to develop between the ages of 1 and 2. Some of the most common include:

• leukocoria—the pupil of the eye appears white instead of red when light shines into it. It’s also often seen in photos that had been taken with a flash. Instead of the typical “red eye,” the pupil may appear white or distorted. Leukocoria is the most common symptom of retinoblastoma, but it’s not required for a diagnosis.

• strabismus ( also called “wandering eye” or “crossed eyes”)— one or both eyes don’t appear to be looking in the same direction

• pain or redness around the eye(s)

• poor vision or change in vision

Keep in mind that these symptoms can be caused by other conditions—for example, leukocoria and poor vision may be caused by a cataract—so it’s important to always see a specialist for a diagnosis.

FAQ

Q: What's the long-term outlook for a child with retinoblastoma?
A: Most likely. Retinoblastoma can usually be cured—there’s a higher than 90 percent survivorship.

Q: Will my child be blind?
A: Each child’s case is different. The long-term outlook for vision often depends on the size and location of the tumor and on the effectiveness of treatment. Rest assured that your child’s doctors will do everything possible to save her vision.

Q: What treatments are available for retinoblastoma?
A: Treatments for retinoblastoma may include radiation, cryotherapy, thermotherapy, chemotherapy and enucleation (surgery to remove the eye, only performed as a last result when the health of the child would be in serious jeopardy otherwise).There are also a number of clinical trials that test new therapies. 

Q: When is a diagnosis usually made?
A: When there is no family history of retinoblastoma, the cancer is usually diagnosed when the child is 1 to 2 years old. This is when symptoms begin to develop. If there is a family history, a child may be diagnosed before symptoms develop.

Q: Where will my child be treated?
A: Children treated through Dana-Farber/Children’s Hospital Cancer Center receive their outpatient care at the Jimmy Fund Clinic, which is located on the third floor of the Dana Farber Cancer Institute. If your child needs to be admitted to the hospital, she’ll stay at Children’s Hospital Boston, on the ninth floor of the Berthiaume building.

Questions to ask your doctor

After your child is diagnosed with retinoblastoma, you may feel overwhelmed with information. It can be easy to lose track of the questions that occur to you. Lots of parents find it helpful to jot down questions as they arise – that way, when you talk to your child’s doctors, you can be sure that all of your concerns are addressed.

Some of the questions you may want to ask include:

• Has my child’s tumor spread?
• Can it be treated with surgery?
• How long will my child need to be in the hospital?
• What are the possible short and long-term complications of treatment? How will they be addressed?
• What is the likelihood that my child will be cured?
• What is the likelihood that my child’s vision will be spared?
• What happens if the tumor returns?
• What services are available to help my child and my family cope?