(August 25, 2010 - Insidermedicine)

A genetic anomaly associated with an eye disease that damages the cornea has been identified in research that appears online ahead of print in the New England Journal of Medicine.

Here is some information about Fuchs disease:

•    It is an eye disease that generally starts causing problems in those aged 40 and older

•    The initial signs are cloudy vision, which progresses into the emergence of tiny bumps and then painful blisters on the cornea

•    It is a leading cause of the need for corneal transplant surgery

Researchers from the University of Oregon conducted a genetic analysis of nearly 300 individuals with Fuchs disease who had undergone corneal transplantation as a result of their disease. The investigators then compared these findings with the results of a genetic analysis they conducted on over 400 individuals without the condition.

An alteration in a gene known as transcription factor 4, or TCF4, was present more frequently among those with Fuchs than those without. In fact, having this alteration could increase one’s risk of Fuchs by up to 200 times. While the manner in which this genetic alteration produces Fuchs remains unclear, the investigators did identify two proteins that are likely to be involved, giving them new targets for further study.

Today’s research helps clarify the biological underpinnings of a poorly understood eye disease.