“My colon has something to do with my eyes?” I asked.
The doctor told me he had found “freckles” on my retinas. “When the freckle has a certain appearance and is found in a certain number, evidence shows that it’s highly associated with a specific syndrome of colon polyps,” he said.
Adams explained that the likelihood of cancer was low but that it was better to be safe than sorry. “It’s for your own peace of mind,” he said reassuringly.
I located a gastroenterologist that afternoon.
* * *
This eyeball-colon correlation was news to me and everybody I mentioned it to. But, as Adams later told me, it’s been known for a long time.
Richard Cabot, a physician at Massachusetts General Hospital, first reported an association between colon cancer and a certain type of retinal pigmentation in 1935.
“The medical literature remained largely silent on this association until 1980, when Drs. Norman Blair and Clement Trempe described the association between colon polyps and colon cancer and this specific back-of-the-eye freckle,” continued Adams, who is editor in chief of the medical journal Eye Reports. They named the freckle CHRPE (pronounced “chirpy,” an abbreviation for “congenital hypertrophy of the retinal pigment epithelium”).
A later study found that CHRPE has a “statistically significant” correlation with hereditary colon polyps known as familial adenomatous polyposis, or FAP. It may be that the freckles are caused by the same genetic mutation that produces the polyps.
A 2010 study in the American Journal of Gastroenterology concluded that patients with such freckles should be referred for colonoscopies.
The gastroenterologist I went to did not acknowledge any connection between retinal freckles and colon disease. But he did say that at 63, I was overdue for a colonoscopy, and he worked me into his schedule within a week.
During the procedure, he located and removed three sessile (or flat) polyps, each about the size of a pencil eraser. He sent them off to be tested for malignancy and told me it would take a week to get the results.
Rather than fret about the possibility of a positive from the lab, I focused on finding out more about what still seemed to be a peculiar way to start a diagnosis. I asked Adams more questions.
“When we look in back of the eye at the retina, we can find signs that may help us identify many disorders — common ones like high blood pressure and diabetes, rare genetic disorders and even life-threatening cancers.” These could include lung cancer, breast cancer, pancreatic cancer, brain cancer, lymphoma, multiple myeloma and more, he said.