A Rare Masquerader

Published in Wilmer - Annual Report 2019

First diagnosed with chronic lymphocytic leukemia (CLL) in 2009, Geoffrey Grubbs dealt with his disease for the better part of eight years. By 2017, Grubbs was in remission, but his cancer was returning, albeit slowly. Grubbs felt healthy, so his oncologist counseled a wait-and-see approach before beginning chemotherapy again. Then, one evening, things changed.

“I came down and said to my wife, ‘You want to hear a weird symptom? I can't see,’” Grubbs remembers. That quickly prompted a visit to his ophthalmologist in Washington, D.C., where Grubbs lives. “The local eye doctor took one look and hit the panic button,” Grubbs says.

A retinal specialist was hailed from nearby. Hours of tests ensued. Grubbs had lesions behind his retina. Fearing an infection that might spread along the optic nerve into his brain, the ophthalmologist scheduled Grubbs at the Wilmer Eye Institute the very next day. There, Grubbs was placed in the care of J. Fernando Arevalo, M.D., Ph.D., Wilmer’s Edmund F. and Virginia Ball Professor of Ophthalmology, and T.Y. Alvin Liu, M.D., assistant professor of ophthalmology. Liu saw the patient first.

“Dr. Liu thought I was really interesting, which is never good when you’re a patient,” the good-humored Grubbs jokes now. “He was all over this one.”

In the ensuing days, many more hours of tests followed at Wilmer and with his oncologist — including various types of imaging, an MRI scan and a spinal tap.

The lesions, in addition to involving the retina, were on the optic nerve and “all over my brain lining,” he recalls. Worse yet, Grubbs began having as many as seven seizures a day. At that point, even the irrepressible Grubbs was scared.

Arevalo and Liu quickly ruled out the worst possible diagnosis, an infection, but that bit of good news presented a new dilemma. The doctors strongly suspected an infiltrative process as the culprit for the lesions, but that meant one of two possibilities. Either Grubbs had a separate, rare, aggressive lymphoma called primary vitreoretinal lymphoma, or his CLL had returned with metastasis to his eyes, which would be an extremely rare occurrence.

“Beyond rare,” Liu says.

“If it were CLL, Mr. Grubbs’ condition would be only the third or fourth such case recorded in the medical literature,” Arevalo says. “We needed a very high suspicion to say that it had returned.”

Through test results and combing through the medical literature, Arevalo and Liu were able to rule out the more serious lymphoma, fingering for certain CLL as the cause of the lesions. Then, in consultation with Arevalo and Liu, Grubbs’ oncologist at Georgetown Lombardi Comprehensive Cancer Center in Washington, D.C. — who had made the original CLL diagnosis years before — quickly began a dual course of cancer treatment: First, chemotherapy was injected into Grubbs’ spinal column to attack the CLL in the central nervous system. Second, the patient was prescribed a new, targeted oral medication designed to penetrate the formidable blood-brain barrier that often prevents medications from reaching their intended targets in the brain, optic nerves and eyes.

The novel treatment worked. Quite possibly better than anyone, including the patient himself, could have hoped. Within two months, Grubbs’ seizures stopped, and sight in his less-affected left eye returned to 20/20, with virtually no lesions present. Eight months later, the lesions in his more seriously affected right eye had regressed. His vision in his right eye finally recovered to 20/40.

“We saved his sight and were able to help prevent his cancer from metastasizing to other parts of his body,” Arevalo says.

Because CLL manifestation in the eye is a “rare masquerader,” Arevalo says, it is little understood and, therefore, too often misdiagnosed.

For his part, Grubbs is ecstatic with his care. Arevalo and Liu working together were an “amazing team,” he says.

Grubbs, whose CLL is back in remission, is so grateful for the quick and accurate diagnosis of his rare presentation and with the doctors’ expertise in prescribing the right drugs to treat his condition that he has made a gift to Wilmer in support of Arevalo’s research. That gift has become the basis for an ongoing fund that others can support as well.

“I think it is crucially important for ophthalmologists to understand this connection to blood cancer and to advance science in a way that other CLL patients like me can benefit,” Grubbs says.