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How Pictures Of Infant Boy's Eyes Helped Diagnose Cancer

A milky eye can be a sign of early cancer of the retina.
Courtesy of Bryan Shaw
A milky eye can be a sign of early cancer of the retina.

Bryan Shaw never expected to write a research paper about a rare eye cancer.

He's a chemist who works on how metals and proteins interact. But life has a funny way of interrupting the best-laid plans, and now Shaw may be on to a powerful new way to detect retinoblastoma in newborns. Such early detection could mean children with the disease would have a better chance of keeping their eyes and staying alive.

Shaw's scientific odyssey begins in May 2008, when he and his wife, Elizabeth, had a baby boy, Noah. Bryan was a postdoc at Harvard University at the time.

When Noah was 3 months old, Elizabeth noticed that sometimes when she took a flash picture of Noah with their digital camera, she would see a white reflection come back from his eyes instead of the usual red dot. She had read in a parenting magazine that this could be an early sign of retinoblastoma, so naturally as a first-time parent she assumed the worst. As husbands are wont to do, Bryan assured her she was crazy.

But on their next visit to the pediatrician, the doctor dutifully shined a penlight into Noah's eyes, since a white reflection from this simple eye exam can also detect the retinoblastoma tumor. The pediatrician didn't like what she saw, so she sent the Shaws to an ophthalmologist, who confirmed the worst: Noah had tumors in both eyes.

There followed months of chemotherapy, radiation, and ultimately surgery to remove Noah's right eye — and eventually years of checkups.

At first, Shaw says, he was too distraught to think about his son's cancer in scientific terms. But one day when Noah was 2, Bryan was in the waiting room while Noah was getting therapy, and he started thinking about the baby pictures that first revealed the tumor. He wondered if there was a way to track the disease back to the day the tumors first appeared.

He started small, but ultimately he would end up digitizing thousands of pictures he and Elizabeth had taken of Noah, searching for the first sign of leukocoria, as the white-eye condition is technically known.

"It first showed up in a picture taken when Noah was 12 days old," says Shaw. It didn't appear in all the pictures taken around that time. The tumor was small then, and the camera angle had to be just right to get the white reflection. But by 3 months there were days when nearly all the pictures showed signs of leukocoria.

Shaw is now on the faculty of Baylor University in Waco, Texas. He collaborated with the ophthalmologist who treated Noah at the Massachusetts Eye and Ear Infirmary and Noah's oncologists at Dana Farber Cancer Institute to produce a paper published in PLOS ONE.

In addition to pictures of Noah, the paper analyzes family photos from eight other children after they'd been diagnosed with retinoblastoma. The leukocoria is present in all of them.

Using the more than 7,000 pictures Bryan and Elizabeth have taken of Noah, the paper also shows that the amount of leukocoria that the digital cameras can detect increases with the size of his tumor.

Bryan is hoping to get more pictures from families with a child with retinoblastoma. He's also looking for a collaborator who could write software that would automate the process of scanning photos for leukocoria.

The disease is rare — fewer than 12 cases per million children aged 0-4. That works out to about 1 case for every 15,000 live births. Still, Bryan thinks a screening test would help with early detection of the cancer, and might save the vision of kids like Noah.

And speaking of Noah, he's a hoot. His health is good, and the cancers seem to have given up. He likes to draw and sing, and he's anything but shy. He has a prosthesis where his right eye used to be, which makes him look pretty much like any kid his age. And now he has a baby brother Samuel who, happily, doesn't share his disease.

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Joe Palca is a science correspondent for NPR. Since joining NPR in 1992, Palca has covered a range of science topics — everything from biomedical research to astronomy. He is currently focused on the eponymous series, "Joe's Big Idea." Stories in the series explore the minds and motivations of scientists and inventors. Palca is also the founder of NPR Scicommers – A science communication collective.