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Researchers Find Gene Involved in Fuchs Corneal Dystrophy
Edwards performed a genome-wide analysis comparing patients with and without typical age-related Fuchs, finding an alteration in the transcription-factor-4 gene (TCF4). Fuchs -- pronounced FEWKS or FOOKS -- generally emerges in middle-aged, roughly age 40, and older people.
The discovery appears online Wednesday, Aug. 25, ahead of regular publication in the Sept. 9 issue of the New England Journal of Medicine.
Fuchs emerges slowly with blurred or cloudy vision, tiny bumps known as guttae (GOO-tay) on the cornea's surface and, in severe stages, painful blisters on the corneal surface. The disease affects the endothelium, a thin layer of cells that line the back part of the cornea where changes result in swelling of the cornea and thickening and clouding of the cornea. Guttae are found in the corneas of an estimated 5 percent of people in the United States.
Of those diagnosed with Fuchs, only a small percentage go on to require corneal transplants, said lead author Dr. Keith H. Baratz of the Mayo Clinic ophthalmology department in Rochester, Minn. There are about 40,000 corneal transplants -- about 10,000 linked to Fuchs -- performed annually in the United States, according to the Eye Bank Association of America. It is more common in women than in men, according to the Fuchs Corneal Dystrophy Association.
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