Gene mutations behind Myopia identified
4 May 2013 6:49 PM IST
Resea-rchers have identified gene mutations associated with Myopia or nearsightedness - the most common human eye disease in the world, especially in Asian populations. Mutations in a gene that helps regulate copper and oxygen levels in eye tissue are associated with a severe form of nearsightedness, according to researchers at Duke Medicine.
Nearsightedness, also known as myopia, occurs if the eye is too long or the cornea has too much curvature, which keeps light entering the eye from focusing correctly.
High-grade myopia, a more severe form of nearsightedness, affects up to two percent of Americans and is especially common in Asian populations.
Individuals with high-grade myopia are at an increased risk for other serious eye problems, including retinal detachment, cataracts and glaucoma, according to the study published in the American Journal of Human Genetics. Studies suggest that myopia is caused by a combination of environmental factors, such as large amounts of reading, and genetics. Nearsightedness runs in families, but little is understood about genetic factors that cause it.
‘This is the first time a gene mutation for autosomal dominant nonsyndromic high-grade myopia in Caucasians has been discovered,’ said senior author Terri Young, professor of ophthalmology, pediatrics and medicine at the Duke Eye Center, Duke Center for Human Genetics.
Young and her colleagues sought to identify these genetic factors by studying families with high-grade myopia. They performed next-generation deep sequencing on four relatives from an 11-member American family of European descent. They confirmed four mutations in the SCO2 gene in an additional 140 people with high-grade myopia.
Nearsightedness, also known as myopia, occurs if the eye is too long or the cornea has too much curvature, which keeps light entering the eye from focusing correctly.
High-grade myopia, a more severe form of nearsightedness, affects up to two percent of Americans and is especially common in Asian populations.
Individuals with high-grade myopia are at an increased risk for other serious eye problems, including retinal detachment, cataracts and glaucoma, according to the study published in the American Journal of Human Genetics. Studies suggest that myopia is caused by a combination of environmental factors, such as large amounts of reading, and genetics. Nearsightedness runs in families, but little is understood about genetic factors that cause it.
‘This is the first time a gene mutation for autosomal dominant nonsyndromic high-grade myopia in Caucasians has been discovered,’ said senior author Terri Young, professor of ophthalmology, pediatrics and medicine at the Duke Eye Center, Duke Center for Human Genetics.
Young and her colleagues sought to identify these genetic factors by studying families with high-grade myopia. They performed next-generation deep sequencing on four relatives from an 11-member American family of European descent. They confirmed four mutations in the SCO2 gene in an additional 140 people with high-grade myopia.
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