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Gene Responsible for Vision Disorder Traced

by Rathi Manohar on August 30, 2010 at 8:36 PM Genetics & Stem Cells News

Fuchs corneal dystrophy, a genetic disorder that necessitates corneal transplant operations could be caused by a gene identified in a new study.

Gene Responsible for Vision Disorder Traced

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A 13-member research team led by University of Oregon scientist Dr. Albert O. 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.

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.

Having the TCF4 gene variation has a huge impact on the risk of Fuchs disease, said Edwards, a senior research associate in the University of Oregon's Institute of Molecular Biology.

"It vastly exceeds the risk found previously for the complement-factor-H gene in macular degeneration," he said.

"If a person has risk variants involving TCF4, that individual is anywhere from several to a couple of hundred times more likely to have Fuchs disease."

While the TCF4 gene has been identified, exactly what occurs to cause a defect is not understood. The researchers found evidence that at least one transcription protein, E2-2, needs more scrutiny.

ZEB1, which may be regulated by E2-2, already is thought to contribute to Fuchs.

The study involved the genotyping of 280 Fuchs patients recruited in clinical settings in Minnesota and Michigan. These patients had at least Stage 1 signs of Fuchs or had received corneal replacements as a result of the disease. Their genomes were compared with 410 control patients.

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