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Genetic Defects Linked to Blindness
Reported September 12, 2011
(Ivanhoe Newswire) --According to Junior Blind of America), an estimated
47,000 people become blind each year; that means one person goes blind every
11 minutes. There are many aspects that can contribute to blindness and
researchers have discovered genetic defects that could cause you to go
blind.
Using next generation DNA sequencing, researchers from the University of
Leeds have discovered what causes rare forms of inherited eye disorders,
such as cataracts and glaucoma, in children. The study that was co-led with
colleagues from Flinders University in Adelaide, Australia, analyzed DNA
from three unrelated families, which all had members with poor vision from
birth linked to problems with the eye’s lens and cornea.
Dr. Manir Ali and colleagues found that all of the family members with
impaired vision had defects in an antioxidant called peroxidasin, which
makes up part of the lens and cornea and is responsible for protecting the
eye.
“We know that in healthy eyes, peroxidasin acts as a first line of defense
against the damage that ultraviolet radiation and sunlight does to our skin.
It may also help protect against cataracts in older people,” Dr. Ali was
quoted saying. “Our findings imply that this same protein is essential for
the normal development of the lens and surrounding structures at the front
of the eye.”
The study, which was published in the latest issue of the American Journal
of Human Genetics, concluded that these defects are responsible for causing
cataracts and glaucoma in children who have inherited this rare form of eye
disorder.
The researchers of this study plan to use DNA sequencing to screen all eye
genes at once so that all patients with inherited blindness can find out
specifically what is causing their eye problems and be able to receive the
proper treatment. It may also lead to new treatments for adults with this
form of inherited blindness.
“ This DNA sequencing technology looks set to revolutionize the medical
world, giving patients and their doctors more information than ever before
about their genetic make-up and how it can affect their health and response
to treatment,” Dr. Ali was quoted saying.
SOURCE: University of Leeds
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