Large Study of Retinoblastoma Survivors Identifies Extent of Medical Conditions Later in Life

By Matthew Tontonoz,

Monday, February 1, 2016

A child has his eyes examined by an ophthalmic oncologist.

Retinoblastoma is a rare childhood cancer that affects the eyes. It is highly treatable but can result in long-term medical consequences. A study conducted by MSK researchers documents the type and frequency of these consequences among survivors. The results will inform the care and follow-up of adult patients with the disease.

  • Retinoblastoma is a rare pediatric cancer affecting the eyes.
  • There are both hereditary and sporadic forms of the disease.
  • Treatment for retinoblastoma can lead to long-term negative health consequences, especially for patients with disease in both eyes.
  • But overall, the health of long-term survivors of retinoblastoma is good.

For adult survivors of retinoblastoma, a rare childhood cancer affecting the eyes, a big concern is late-arising health conditions. These can include second cancers and eye problems, as well as treatment-related side effects, though up to now the particular problems to watch out for have not been clear.

A new study conducted by Memorial Sloan Kettering researchers and published in the journal Cancer looks at these long-term effects, and — for the first time — offers an estimation of their frequency and extent.   

We spoke with lead author and MSK pediatrician Danielle Novetsky Friedman about the significance of the study, which looked at follow-up data from retinoblastoma patients going back to 1932. 

Why is this study significant?

Very few large studies have looked at this population, which means there wasn’t a lot of information out there before on the issue of long-term health consequences. I frequently get emails from retinoblastoma survivors who say, “What should I be looking out for?” This is really the first report with such a large number of patients, and given the rarity of this tumor, that’s something significant.

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What long-term consequences of retinoblastoma did you study?

Danielle Novetsky Friedman

We started out by looking at all long-term medical conditions, including second cancers and eye problems. But there already are a lot of data on those two things, particularly in those survivors with the hereditary form of retinoblastoma. So we were interested in looking at the other problems these patients develop in adulthood. They are living very long, productive lives, but they’ve received treatment that can cause different health issues. We were interested in delineating what those other problems are.

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What were the most common health problems that you found among retinoblastoma survivors?

After second cancers and eye problems, the most common severe, chronic conditions were hearing loss, thyroid nodules that required partial thyroidectomies, and diabetes requiring insulin.

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You found that these health problems were more common among patients with retinoblastoma in both eyes. Why is that?

Even though retinoblastoma is one disease, it’s really quite different in those with disease confined to one eye and those with disease in both eyes. If you have retinoblastoma in both eyes, called bilateral disease, you’re presumed to have a germline genetic mutation — meaning it is present in all the cells in your body. Having that mutation predisposes you to other types of cancer. The majority of patients who have disease in only one eye don’t have that mutation — although some do.

Anyone with a history of bilateral disease is at risk for second, third, and fourth cancers. Patients with disease in both eyes also probably receive more treatment than those with disease in one eye. That puts them at increased risk for these treatment-related chronic conditions that emerge later in life.

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Yes, for the most part. In the case of secondary cancers, these are probably related to the genetics of the disease as well. The visual issues are related to the disease and the treatment. The other long-term health issues are most likely driven by the treatment — radiation in many cases. In addition to killing the cancer cells, radiation therapy can potentially damage healthy tissue in the radiation field. It is possible that some of the health issues we noted were related to radiation exposure of healthy tissues. Retinoblastoma survivors with the genetic form of the disease also have increased sensitivity to radiation.

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Are there lessons from this study for how patients with retinoblastoma should be treated today?

For the most part, the patients in this study were treated in a way that patients today would not be treated. We now use radiation much less frequently, and we have all kinds of new treatments, including something called intra-arterial chemotherapy, which we hope will result in few long-term problems. What this study does is provide us with a historic benchmark for looking at future potential problems related to more contemporary treatments.

It can also inform the care of long-term survivors of retinoblastoma who were treated with older therapies. For instance, in our clinic, we take care of patients who had retinoblastoma as young children and who have survived for many years. These data are helpful for people like us who care for these patients as they grow older.

In the case of survivors with bilateral disease or a known mutation, we are always on the lookout for other cancers, including osteosarcoma — a type of bone cancer — soft tissue sarcomas, and melanoma. This study shows we should also be paying attention to possible hearing problems and doing careful thyroid exams, for example.

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Despite the long-term health consequences in some patients, how does the overall picture look for retinoblastoma survivors?

Overall, the results of this study were quite encouraging. All of these data are self-reported. Survivors filled out a very detailed survey about their medical health. We asked the question, “How would you rate your general health?” The vast majority of people rated their health as excellent, very good, or good. That is a really encouraging takeaway message for those of us who are doing this work.

Pictured: David Abramson
If your child, adolescent, or young adult has been diagnosed with retinoblastoma or is suspected to have retinoblastoma, Memorial Sloan Kettering Cancer Center is ready to help.
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Unless a patient has only been treated with surgery for his/her cancer, there are always some kind of side effects from chemo and radiation therapy. The best part is that the patients can hopefully live with these side effects.

I am very interested in this. I am 55 and a survivor of RB unilateral with enucleation. My son who is now 23 also had unilateral RB. Am I correct to assume we have the germline genetic mutation? I would really be interested in seeing the complete study.

Dear Sheila, we are sorry to hear about your and your son. The best way to know whether you have a genetic mutation is to undergo genetic counseling and testing, which is offered at MSK. You can learn more about it here:…. If you have additional questions or would like to make an appointment, please call 646-888-4050.

Per your request, a copy of the full study discussed in the blog can be found here:

Thank you for reaching out to us.

Hello, what is the age range to be diagnosed with retinoblastoma? I was diadnosed at around 2 and treated at Sloan. Just wondering for my own kids.

Dear Christy, retinoblastoma, the most common type of eye tumor seen in children, occurs most often in young children before the age of five and affects boys and girls in equal numbers. To learn more about signs and symptoms of this disease, please visit….

If a parent had unilateral retinoblastoma, 7 to 15 percent of their offspring will have retinoblastoma. If a parent has been treated for bilateral retinoblastoma, almost half (45 percent) of their children will develop retinoblastoma in their eyes. In all cases, this cancer is caused by an abnormality in chromosome 13. There are many options available for genetic testing of retinoblastoma. These tests can modify the risk or can predict whether or not a child in a family with bilateral retinoblastoma is at risk to develop the disease.

To learn more about these risk factors and genetic testing for retinoblastoma, please visit…

We hope this information is helpful. Thank you for reaching out to us.

My baby of 19months old have retinoblostoma in her right eye at e stage. Now she is giving intra artial chemotherpy.
How is this treatment

Tariq, we're sorry to hear about your child's diagnosis. If you'd like to learn more about MSK's approach to treating retinoblastoma, you can go to If you'd like to make an appointment for a consultation you can call our Department of Pediatrics at 212-639-5954 or go to for more information on making an appointment. Thank you for your comment.

I was diagnosed with bilateral RB at 4 weeks old. Between 23 radiation treatments between 10 weeks and 10 months old I lost my left eye and was lucky enough to keep my right eye. I'm 26 and will admit because of my history my life has been very messy health wise. Sadly with not all specialist are familiar with RB, it's Dr to Dr and no answers other than its "something I have to deal with."

Essentially I'm saying thanks for doing the study. We need more of them and a database of survivors. Wish I saw more studies for those younger than a year.

Samantha, thank you for sharing your story. Best wishes to you.

Hi, my son is currently being treated for unilateral RB by MSKCC. We really appreciate the efforts and help we have been receiving from the medical team. Thanks to MSKCC, he is doing well and hopefully we can retain as much vision as possible in the affected eye.

I have couple questions -

1. since my son has hereditary RB, we are very careful of exposing him to radiation, especially the UV. Right now we are using sunblock and controlling his exposure to sun (no more than 60 min and avoiding the 11am to 2pm when UV is at the highest level.) Will these measures be adequate or do we need to do more?

2. We have read about the recent CRISPR/CAS9 breakthrough and are excited by its potential application in treating minor gene mutation (according to the genetics report, one of our son's RB1 genes was defective due to one miscoded amino pair.) Is MSKCC doing any research on this and will there be any clinical trial be available in the future?

Thank you for your great work.

Dear Chuck,
We forwarded your questions to Danielle Novetsky Friedman, an MSK pediatrician with expertise in RB. Here is what she said: "1. While we always recommend appropriate sun protection, it is unclear whether the risk of melanoma in patients with retinoblastoma is related to UV exposure. Given this risk, however, it is our practice to recommend annual whole body skin exams with a dermatologist for any individual with hereditary retinoblastoma.

2. To our knowledge, no such trials are available for patients with retinoblastoma at this time."
Thank you for your questions.

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