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 eyes 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
