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Gene That Leads to Myopia (Nearsightedness) Identified by Researchers

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5th July, 2012  

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Myopia, also known as short-sightedness or nearsightedness is a vision problem in which the cornea is either too steeply curved or the eye is longer than average. Both of these issues make it difficult for the light rays to reach the eye retina which results in blurred distant vision.

Late last year, scientists discovered a gene called LEPREL1 whose mutation may lead to myopia. The research group was led by Professor Ohad Birk, who commented, “We are finally beginning to understand at a molecular level why nearsightedness occurs.”

Myopia is mostly a hereditary trait, meaning it is passed down through family generations. If someone in your family suffers from myopia, such as your parents or grandparents, there’s a chance that you could suffer from it too. It is also the most common human eye disorder, and in some cases can lead to further secondary eye disorders such as retinal detachment, macular degeneration as well as early onset of glaucoma and cataracts.

The research group studied the Bedouin tribe is southern Israel, in which many of the tribes people suffer from cases of severe early-onset myopia. The defective gene, LEPREL1, was discovered via this study.

The LEPREL1 gene is essential for the final modification of collagen in the eye. When this gene mutates, there is an absence of the active form of the enzyme required, so the collagen forms abnormally, which causes the eye to be longer than normal. This, in turn, is the cause of the myopia.

Future studies are required to determine if LEPREL1, or its related genes, are significant in leading to the causation of myopia in the rest of the population too.

Luckily, myopia is not untreatable, with LASIK (Laser Assisted In-Situ Keratomileusis) eye surgery, which is a type of refractive eye surgery, being available to help treat the problem.

In LASIK eye surgery, a small hinged flap is cut in the cornea, which is then lifted to expose the rest of the cornea underneath that flap. Lasers are then used to flatten the cornea, which helps to solve the issue of myopia, meaning the sufferer no longer needs glasses or contacts as they should now have clear distant vision.

LASIK is becoming a more and more popular solution, not just for myopia, but for other vision problems, such as hyperopia (also known as long-sightedness, or farsightedness) and astigmatism. It is also recognised as a low risk procedure, with the Royal College of Orhthalmologists stating that complications occur in less than five percent of cases.

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