Genetic Cause for Eye Disorder Uncovered

Alteration in gene may cause extreme farsightedness, researchers say
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FRIDAY, Aug. 26, 2005 (HealthDay News) -- Researchers have discovered what appears to be the first human gene mutation that causes extreme farsightedness.

Working with an Amish-Mennonite family tree, Johns Hopkins University researchers at the Wilmer Eye Institute uncovered the genetic cause of nanophthalmos, a rare, potentially blinding disorder. That cause is an alteration in a gene called MFRP located beneath the retina.

"We hope this protein holds the key to unlocking not only nanophthalmos, but other forms of farsightedness and nearsightedness as well," said Olof Sundin, an assistant professor of ophthalmology at the Johns Hopkins School of Medicine in Baltimore.

Nanophthalmos causes the retina to grow too close to the lens, and can lead to glaucoma or detached retina later in life.

Doctors believe this happens because mutated MFRP interferes with the genetic process that determines when the human eye should stop growing.

The research was published in a recent issue of the Proceedings of the National Academy of Sciences.

More information

The National Institutes of Health has more about farsightedness.

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