New Research may help solve one of the more common forms of inherited blindness in babies.

A Scientists at the University of Leeds, in collaboration with an international team from around the world has found a gene, the thirteenth gene, that when mutated, can cause inherited infant blindness.

The gene is essential to photoreceptors in the eye, the cells that “see” light.

The newly-discovered gene, LCA5, is involved in the production of lebercilin, an essential component of photoreceptors in the retina. Lebercilin is found in other tissues as part of the cilia, finger-like projections from the surface of cells capable of moving molecules around. However, mutations in the LCA5 gene only appear to cause defects in the retina.

Mutations in LCA5 are relatively rare. As it is a recessive gene, a child would need to be carrying two copies of the gene to develop LCA, one from each parent. However, the disorder is more common within populations where marriage to first or second cousins is common, such as the Pakistani community.

“If a parent is found to carry a mutation in the LCA5 gene, the risk of blindness in their children and grandchildren is still virtually zero as long as the other parent does not carry it,” says Professor Chris Inglehearn from the Leeds Institute of Molecular Medicine at St James’s Hospital, Leeds “The odds of two parents both carrying the same or different mutations in the LCA5 gene is very low, but this increases where the parents are related.”

“We already know of a dozen genes which, when mutated, cause LCA,” says Professor Inglehearn “This new gene is the thirteenth and adds a substantial new piece to a growing body of evidence that defects of the cilia are a major cause of inherited blindness. In that sense, we can consider this a ‘lucky thirteenth’ as we are building a much clearer picture of what causes the disorder.”

Source
University of Leeds