Gene Discovery Behind Short-sightedness Could Lead to New Treatments

Researchers at Duke University Medical Center have uncovered a gene linked with myopia or nearsightedness in Caucasian people from several different regions, including Dutch, British and Australian subjects.

The discovery could aid scientists to come up with new treatments for one of the most common eye disorder in the world.

Myopia - Symptoms and Diagnosis - Treatment - FAQs
Myopia is the inability of a person to see the distant objects clearly. Myopia is also known as near or short sightedness.

Already, gene therapies are working well in some eye conditions, and myopia may be a good candidate condition for gene repair.

"The eye is already an organ of choice for gene therapy, for example, because the eye's small volume and self-contained area allow the therapy to remain inside the eye in a concentrated volume," Nature quoted lead author Dr. Terri Young as saying.

"In addition, the eye's accessibility lets clinicians observe the effects of treatment over time with noninvasive methods that can illuminate and test the retina and other eye structures," he added.

Short Sightedness
Short Sightedness (Myopia) is a common vision problem, in which individuals cannot focus on distant objects and the images look blurred. This problem can be corrected with eyeglasses, contact lenses or surgery.

While many cases of myopia are mild, about 2 to 3 percent are pathological cases with retinal detachment, premature glaucoma, macular bleeding, and glaucoma leading eventually to blindness, said Young, who has spent over a decade studying the severe form of myopia.

Working with a large group of researchers, Young found several distinct spellings of DNA code near the RASGRF1 gene that had a strong association with focusing errors in vision.

Anatomy of the Eye
Interactive section of Medindia gives details regarding anatomy of the Eye

These findings were validated in six other Caucasian adult groups in a total of 13,414 subjects.

"Because RASGRF1 is highly expressed in neurons and the retina, it is crucial to retinal function and visual memory consolidation," said Young.

Quiz on Eye
The eyes are the most complex part of the body after the brain. To learn more about the eye, its functions and the diseases that affect the eye participate in this quiz.

When the scientists created mice that were missing the correct gene, these mice showed changes in their eye lenses.

"This was biologically convincing. The RASGRF1 provides a novel molecular mechanism to study so that we can work to prevent the most common cause of visual impairment," said Young.

Young has also led a team that found a different gene-CTNDD2 - - related to myopia in Chinese and Japanese populations.

The study has been published in Nature Genetics.

Source-ANI