LONDON (Dispatches)-A genetic mutation that contributes to sight loss in children has been identified by scientists.
The mutation was identified in patients with a disease known as ocular coloboma, which causes part of the eye to be missing at birth.
The findings shed light on its causes and help to explain how genes contribute to development of the eye, researchers say.
Ocular coloboma accounts for up to 10 per cent of all childhood blindness. It can cause a distinctive keyhole-shaped pupil as it commonly results in a missing segment in the iris, the coloured part of the eye.
Few genetic causes have so far been found to explain the cause of coloboma.
The research team -- lead by the University of Edinburgh -- worked with 12 families, studying the DNA of children with coloboma and their unaffected parents.
Using state-of-the-art genetic screening -- known as whole exome sequencing -- the scientists revealed mutations in 10 genes, three of which were linked to activity of one molecule.