For now, treatment involves regular eye exams to spot problems like glaucoma and cataracts and treat them early. Even so, surgery is often necessary -- and, Nerby said, people may have to travel to get it, since their local ophthalmologists may not be comfortable dealing with aniridia.
Since 2000, Nerby has had eight surgeries attempting to treat scarring of her corneas, which nearly all people with aniridia develop eventually. Those surgeries involved transplants, of either a donor cornea or primitive cornea cells called limbal stem cells. The problem is that those approaches often fail, and because of the donor tissue, patients have to take immune-system-suppressing drugs.
Last year, Nerby had an artificial cornea put in place. That's a newer approach that experts hope will offer a better option since it does not require immune-suppressing drugs.
Another issue Nerby has faced is called aniridia fibrosis syndrome, an abnormal thickening and scarring of connective tissue throughout the eye. "With that," she said, "you can lose your eye, not just your vision."
No one is sure why it occurs, and one possibility is that it results from the many surgeries aniridic patients undergo. "We're having these surgeries just to save the vision we have," Nerby said. "So we need research to understand whether surgeries are contributing to [aniridia fibrosis syndrome]."
The approaches to managing aniridia are improving, Grainger said. "[But] we need them to keep getting better," he said.
The Aniridia Foundation International has more information on aniridia.
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