Causes of rare forms eye disorders in young patients discovered

Through the use of next-generation DNA sequencing techniques, researchers from the University of Leeds have discovered the causes of rare forms of inherited eye disorders in paediatric patients.

In collaborative work with colleagues at Flinders University in Adelaide, Australia, Dr Manir Ali and team (University of Leeds, UK) studied the DNA from three unrelated families that all had members with a history of poor vision from birth linked to the eye's lens and cornea. It was found that all the family members with impaired vision had defects in an antioxidant protein, peroxidasin, which assists in the development of lens and cornea.

The technique used to make the discovery, next-generation DNA sequencing, allows genes to be read quickly and enables users to spot errors that cause inherited disorders. It is hoped that this discovery will help in the identification of families at risk of conceiving children with severe vision impairment, so that appropriate counselling can be given. Additionally, further worked is planned to use the same technique in screening every eye gene simultaneously to assist in diagnosis and treatment time.

Full details of the study were published in the American Journal of Human Genetics and more information may be found on the University's website: www.leeds.ac.uk