Cause Of Fuchs Corneal Dystrophy Discovered

30 Aug

One in 5 patients suffers from Fuchs’ corneal dystrophy a condition that results in blurred vision due to swelling and clouding of the cornea, according to John Henahan, optometrist at Spectrum Eyecare in Peachtree City.   “If the eye is like a camera, the cornea is the main focusing lens”, continues Dr. Henahan.  “In Fuchs dystrophy, the cornea becomes swollen and then cloudy preventing the eye from getting a clear image. This results in blurred vision that interferes with the many tasks that are important in life, such as driving, reading and watching TV.”

Los Angeles Times (8/25, Maugh) reported that, according to a study (pdf) published online Aug. 25 in the New England Journal of Medicine, “researchers have a identified a faulty gene that is the major cause of Fuchs’ corneal dystrophy (FCD), which affects an estimated 5% of Americans over the age of 40” and “can ultimately cause blindness by blocking the transmission of light through the cornea.”

For the study, researchers “analyzed the genomes of 280 people with Fuchs and 410 people without the disease,”HealthDay (8/25, Phillips) reported. “They found that people with particular versions of a gene called transcription factor 4 (TCF4) were much more likely to develop FCD.” Specifically, “people with one copy of a high-risk version of TCF4 were five times more likely to develop FCD as were people without one of these versions; those with two copies were 30 times as likely to develop the disease.”

MedPage Today (8/25, Smith) reported that “a second region in the gene encoding protein tyrosine phosphatase receptor type G…also appeared to be associated with the disorder, but the association did not reach a preset level for genome-wide significance of P=5×10-8.” An accompanying editorial (pdf) suggested that “once the true causal variants have been pinned down, ‘a clinically useful predictive test may be on the horizon.'”

The UK’s Daily Mail (8/26), the UK’s Telegraph (8/26), the UK’s Press Association (8/26), and Reuters (8/26, Kelland) also cover the story.

This is very exciting news for the millions of patients suffering from this condition.  Currently the only treatment are highly concentrated salt drops and a corneal transplant surgery, in which a donor cornea is sewn into the eye to replace the patients own, faulty cornea.  We would hope to see to some new treatments developed based upon this breakthrough research.

At Spectrum Eyecare in Peachtree City, Dr. Henahan continually strives to stay on the cutting edge of diagnosing and treating eye diseases, and providing the most advanced contact lenses and next generation digital eyeglasses lenses.  Just click here to contact Spectrum Eyecare or call 770-487-0667.

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