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Study finds genetic source for late-onset Fuchs' corneal dystrophy
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Researchers have mapped a second genetic locus causing a common form of late-onset Fuchs' corneal dystrophy.
John Gottsch, MD, and colleagues at Johns Hopkins University in Baltimore obtained phenotypes and genotypes of three large families with a high incidence of Fuchs' corneal dystrophy. The researchers used linkage analysis to narrow down the families' common traits to the short arm of chromosome 18, according to the study.
"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," Dr. Gottsch said in a press release from Johns Hopkins.
The researchers previously mapped Fuchs' corneal dystrophy to gene variants in chromosomes 1 and 13 in single families, suggesting that Fuchs' is not a single disease but "a disorder with several genetic flavors," Dr. Gottsch said.
Dr. Gottsch said in the release that he hopes gene therapy will one day provide an alternative to corneal transplantation for Fuchs' corneal dystrophy patients.
The study is published in the September issue of Investigative Ophthalmology & Visual Science.