James Caffrey has never let Down syndrome keep him on the sidelines. He plays basketball and indoor hockey with the Special Olympics year-round, and golfs with his father. He graduated from high school in Albuquerque, New Mexico, and has a job working as a dietary aide in a rehabilitation hospital. His good vision has been crucial to his development. But a rapidly progressing eye condition that he and his parents never heard of was threatening to rob him of all he had accomplished. Thanks to a new treatment that consists of vitamin B and ultraviolet light, his vision was saved, and he's still in the game.
James has keratoconus. It's an eye disease that can strike anyone, affecting one in every 2,000 Americans. But it's about 20 times more common in people with Down syndrome. The condition affects the front part of your eye, called the cornea. Over time, the cornea thins, gets weaker, and bulges into a cone shape, which can distort your vision. It's like trying to see through a warped windshield.
In April, 2016, the U.S. Food and Drug Administration approved the first treatment that can stop keratoconus. It's called corneal cross-linking. It makes the cornea stronger by increasing the chemical bonds between the collagen fibers in the eye. An ophthalmologist – a physician who specializes in medical and surgical eye care – scrapes off the outer layer of the cornea, and applies riboflavin (vitamin B2) eye drops to saturate the cornea. The eye is then exposed to ultraviolet A light for 30 minutes. Cross-linking is good at stopping the disease from getting worse, but it's not as effective in reversing vision loss. That's why it works best when keratoconus is caught early.
Unfortunately, people with Down syndrome often don't complain about their eye problems, either because they don't notice the problem or because they can't communicate the problem well enough. Even though James' parents, Joanne and Kevin, never heard of keratoconus, they spotted the tell-tale signs early on: squinting or closing one eye shut, an unusual head tilt, crossing or wandering of one or both eyes.
"James is a good reader and he has always participated in sports, so we thought his vision was functional and fine," Joanne said. "But then we noticed him squinting, and turning his head. It appeared to us that he was almost cross-eyed. It came on quickly, as far as we knew."
They first took him to see Frank Durso, MD, a general ophthalmologist, who suspected keratoconus and immediately sent them to cornea specialist, Philip Sanchez, MD. Dr. Sanchez made the diagnosis and recommended cross-linking. But because James has Down syndrome, he would have to have the procedure under anesthesia, which wouldn't be possible in Albuquerque. Dr. Sanchez sent them to J. Bradley Randleman, MD, at USC Roski Eye Institute in Los Angeles, Calif. Dr. Randleman has been at the forefront of advancing cross-linking for keratoconus, having served as a principal investigator for the FDA-sponsored trials that led to its approval in 2016.
It was a whirlwind of activity. Just three months had passed from the time they first noticed symptoms to the time James was treated in Los Angeles.
"It was stressful," Joanne said. "But we were really lucky, we could not have been in better hands, with all of the doctors. They caught it early enough that he could be treated and his vision improved. It has helped him in a lot of different ways. He knows he can see better. He's more comfortable and out there, especially when he plays sports."
James agrees. "Dr. Randleman is a great doctor. Thanks to him, I can see and read better." It’s now easier for James to read recipes, which is a huge plus because he likes to bake. And he can see all the action when he watches his favorite sports teams on TV. His improved vision has also been noticed at work. Up-close tasks are no longer a challenge.
"Before surgery, filling the condiment bottles was not his favorite task," Joanne explained. "But as his eyesight improved, he could do the fine, close-up work that he struggled with before. He couldn't express why he couldn't do these tasks well. But now that he can do things that he struggled with before, he feels much better about himself. It has made such a difference in his life and in our lives too."
The benefits of early treatment can also be seen around James' neck. Last month, he and his indoor hockey team won bronze in a regional Special Olympics competition.
People with Down syndrome are at increased risk for a variety of eye and vision disorders. Keratoconus affects 30 percent. While corneal cross-linking has revolutionized treatment for everyone with keratoconus, those with Down syndrome stand to benefit the most. Traditionally, physicians begin treatment with rigid gas permeable contact lenses until the disease progresses to a point that contact lenses are too painful to tolerate. At this point, a corneal transplant is necessary. Neither are good options for people with Down syndrome. Contact lenses are far more difficult for them to tolerate and transplant surgery is inappropriate for most because people with Down syndrome tend to rub their eyes. Patients who rub their eyes after surgery put the transplant and the entire eye at risk.
Keratoconus is also more difficult to diagnose in people with Down syndrome. Even in the general population, the early signs are subtle and often missed. Things just don't look right or sharp. A type of non-invasive imaging called corneal topography is the best way to detect early disease. But getting good images is dependent upon patient cooperation.
Cross-linking is not an outpatient surgery for most people with Down syndrome. Surgery is done under anesthesia. Post-surgical care is also more difficult. Typically, a bandage contact lens is inserted into the eye after surgery to help with the pain until the eye heals. But because it's a challenge to remove this lens from a patient with Down syndrome, a thick antibiotic ointment is often used instead to help soothe the eye and minimize the risk of infection. And patients must wear goggles to keep them from rubbing their eyes and causing infection. The job of keeping James from rubbing his eyes after surgery primarily went to Joanne and Kevin.
"It was no picnic," said Joanne, laughing. "But it was absolutely worth it. I would do it again. Knowing there is a procedure that can stop progression of this disease is amazing. It's so important to let people know about it."
Since the FDA gave its stamp of approval 18 months ago, Dr. Randleman said cross-linking is becoming more common in patients with Down syndrome. He has treated a handful of patients in just the last six months.
"It's an incredible, life-changing treatment," Dr. Randleman said. "We can now change the course of this disease, where we used to have to take whatever the disease gave us. Now we can completely change it."
Dr. Randleman recalls a patient with keratoconus like James who he cared for 15 years ago. His disease had advanced, and he needed a corneal transplant. Because he was a tremendously cooperative patient, Dr. Randleman performed surgery. It took two years, but in the end, the patient could see well with glasses. In contrast, James could see well without glasses in about two weeks.
"We got extremely lucky," Dr. Randleman recalled of his former patient. "It was such an uphill battle, all the time. Making sure we were on top of stitches and on top of rejection episodes. I anticipate we will avoid all of that for James. Cross-linking is just a completely different process. I hope James never understands how impactful this is. I hope he just recovers and goes about his life and never has to experience the aspects of advanced keratoconus."
Joanne and Kevin are doing their part to make sure more people with Down syndrome never have to experience the advanced stages of keratoconus. They talk to people in their community about the importance of early diagnosis and treatment, and they have become involved with a charity called Light for Sight 21. The mission of Light for Sight 21 is to increase awareness about keratoconus among Down syndrome families and to educate health professionals and primary care eye doctors who manage these patients about the importance of screening for keratoconus and treating the disease.
The American Academy of Pediatrics recommends that children with Down syndrome be examined by a pediatric ophthalmologist or an ophthalmologist who is familiar with the examination of infants with disabilities. The initial exam should be done by six months of age with follow up exams once per year or more if needed.