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Leading reason for corneal transplants comes into focus

43 members had the disease and 33 did not. He and his coworkers were able to narrow down the linked traits in all three families to the short arm of chromosome 18 (the whole "address" is 8q21.2-q21.32).

"Because the same location popped up for three different families with similar forms of Fuchs dystrophy, we believe we have the chromosome locus for the most common genetic mutation resulting in Fuchs," he said. "It's a painstaking process of elimination, but now we are closing in on the gene that causes what we believe is the most widespread form of Fuchs, not just the rare types in individual families. Our methods have clearly shown that Fuchs is not just one disease, but rather a disorder with several genetic flavors."

Gottsch became interested in FCD more than six years ago when he treated a woman with a corneal dystrophy of unknown origin that looked remarkably similar to FCD despite slightly different symptoms. "I knew it wasn't classic Fuchs, but rather something new," remembers Gottsch. "In the end, it wasn't Fuchs at all, but a sort of mutated distant cousin of the disease. It made me wonder, however, if there were more genetic variants of the disease out there."

He stopped wondering a few years later when he examined the Indiana family and discovered what he thought at the time was the youngest case of FCD ever described in the scientific literature, the 10-year-old boy. However, literature published 25 years ago described a Virginia family with a 3-year-old girl with the disease. Gottsch contacted the original investigator and was able to reexamine the family. He was then able to determine the gene that afflicted this family and that it resulted in a unique and severe form of FCD.

"I knew Fuchs was not one but several diseases with multiple genes involved when I started comparing the symptoms of the two families," Gottsch says. "The Indiana family members developed their disease late in life, women were mostly affe
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Source:Johns Hopkins Medical Institutions


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