According to a study published in the latest issue of the American Journal of Human Genetics, researchers from the University of Leeds in collaboration with scientists at the Flinders University in Adelaide, Australia, utilized next-generation DNA sequencing techniques to discover the causes of rare forms of inherited eye disorders, including cataracts and glaucoma in young children.

The findings should simplify identifying affected families at risk of conceiving children with severely impaired vision, so they can be given appropriate genetic counseling and may also lead to new treatments for adults and children with this form of inherited blindness.

The researchers examined DNA from three unrelated families, all of them had members with a history of poor vision from birth associated with the eye’s lens and cornea.

The eye’s lens in conjunction with the cornea make up the clear ‘window’ at the front of the eye, but if these structures are malformed due to incorrect development, this ‘window’ turns cloudy, making clear vision difficult. If untreated, the problems can worsen and lead to glaucoma and eventually blindness.

Dr Manir Ali and his team determined defects in an antioxidant protein called peroxidasin, which makes up part of the lens and cornea in all of the various family members with impaired vision, and concluded that these defects are responsible for causing cataracts and glaucoma in children with this rare form of inherited eye disorders.

Dr. Ali said:

“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. 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 researchers made the discovery by using next generation DNA sequencing, a new way of reading genes quickly and identifying errors causing inherited diseases. They now plan to screen all eye-genes at once using the same approach, so that all patients with inherited blindness can find out the exact cause of their illness and can be treated accordingly.

In a concluding statement Dr Ali said:

“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.”

UK funding for the University of Leeds research was awarded by the Wellcome Trust, the Sir Jules Thorn Charitable Trust, and Yorkshire Eye Research. In Australia, The Ophthalmic Research Institute of Australia, and The Eye Foundation and Sight funded the study conducted by researchers of the Flinders University in Adelaide.

Written by Petra Rattue