An emerging therapy—and close collaboration between specialties—preserves vision in kids with a rare syndrome
A few years ago, Shaquasia Butler lived through a mother's nightmare. She had brought her 7-year-old daughter, Qar'zma, to the doctor for a simple case of strep throat and gotten a prescription for an antibiotic. But as she put Qar'zma to bed, the girl's skin erupted all over in terrible hives, as though she were being scalded. Terrified, Butler immediately rushed her to a Brooklyn hospital, where doctors eventually diagnosed Stevens-Johnson Syndrome — a rare, debilitating and even deadly condition that predominately strikes children.
In SJS, the injury is similar to a burn: skin sloughs off and mucous membranes cease to function. Swallowing becomes painful, blinking is excruciating and the cornea is soon damaged. First identified in the 1920s, SJS is often triggered as a severe allergic reaction to common antibiotics. Exactly why is still a mystery, one with terrible consequences. Fortunately, though, Qar'zma was a short ambulance ride from NewYork-Presbyterian/Weill Cornell Medical Center, home to the William Randolph Hearst Burn Center — one of the country's largest such units — and an ophthalmology department pioneering a novel treatment that is saving children's sight. That work is being led by Dr. Kimberly Sippel, an associate professor of ophthalmology and an expert in ocular surface disorders.
Dr. Sippel is one the first clinicians to use amniotic membranes as a key part of acute eye treatment. Translucent sheets of amniotic tissue are laid on top of the cornea, then sutured in place — providing a highly bio-compatible, protective barrier that gradually melts away, sparing further damage to the cornea and minimizing the eventual accumulation of scar tissue. (The amniotic technique complements more conventional treatments, such as application of topical corticosteroids.) Why amniotic tissue is so effective is not completely understood — it's possibly due to its growth factors or to its specialized structure, which acts as a scaffold for dividing cells to grow on — but it has been used for years to treat burns and other eye conditions.
Dr. Sippel's success with SJS patients has helped make the treatment the emerging standard of care. In a 2010 American Journal of Ophthalmology article, she and colleagues reported on eight patients with significant improvement (none went blind or had significant scarring) more than all others treated elsewhere at the time. But for the technique to become standard practice, it will require closer cooperation between burn units and ophthalmologists at hospitals nationwide. It means applying the eye treatment in the acute phase, even as the patient's life may be hanging in the balance. "Are ophthalmologists going to argue forcefully enough to take someone who has just been ambulanced in with Stevens-Johnson to an operating room right away?" wonders Dr. Donald D'Amico, chairman of the Department of Ophthalmology and the John Milton McLean Professor of Ophthalmology. "For many ophthalmologists confronting the complexity of these patients in an ICU, the strong tendency is to delay more aggressive interventions for a day or two, and unfortunately the window for success may pass. We need to understand that at times these new therapies demand that we do things that are a bit out of our comfort zone if we are to secure the best long-term results for these patients."
That takes working closely with burn experts — and Weill Cornell's burn unit has been receptive to these earlier ocular interventions, yielding important dividends. "It is so gratifying that these kids are often OK in the end; they can go back to be being kids, they can go back to regular school," Dr. Sippel says. "Otherwise, if they are not blind, they are in pain, they don't have normal lives — that's often what happens."
That's a fate Qar'zma was spared. With help from the Boston Foundation for Sight, she was fitted with custom-made contact lenses that continually hydrate the ocular surface — the eye's mucous membranes do not recover — and was soon able to rejoin her schoolmates. Today, more than four years later, she is an avid reader, even winning an award for reading more than her peers. While vision in her left eye is limited to 20/40, Dr. Sippel says, her right eye is fully correctible to 20/20. "Dr. Sippel being there every step of the way made an extremely big difference — she is the reason why Qar'zma can see now, as well as she can," Butler says. "I can't thank her enough."
— Ken Stier
This story first appeared in Weill Cornell Medicine, Vol. 14, No. 1.