Inheritance of a NovelCOL8A2Mutation Defines a Distinct Early-Onset Subtype of Fuchs Corneal Dystrophy
Investigative Ophthalmology & Visual Science2005Vol. 46(6), pp. 1934–1934
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John D. Gottsch, Olof Sundin, Sammy H. Liu, Albert S. Jun, Karl W. Broman, Walter J. Stark, Elizabeth C. L. Vito, Amol Narang, John M. Thompson, Malcolm Magovern
Abstract
A novel pathogenic L450W COL8A2 mutation was identified and its highly distinctive pathology characterized. This indicates that COL8A2 mutations give rise to a rare subtype of FCD. This study also provides the first direct evidence that COL8A2-FCD progresses from early to late stages in 25 years, a rate similar to that estimated for late-onset FCD.
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