Lucky for some: the 13th LCA gene

August 22, 2007

A new gene has been discovered which, when mutated, causes Leber's congenital amaurosis (LCA), a common form of inherited blindness in babies.

A new gene has been discovered which, when mutated, causes Leber's congenital amaurosis (LCA), a common form of inherited blindness in babies, according to a report in the June issue of Nature Genetics.

The gene (LCA5), discovered by researchers from the University of Leeds, UK is the thirteenth gene to be linked to LCA and is involved in the production of lebercilin, an essential component of photoreceptors in the retina. Although lebercilin is also found in other tissues, mutations in the LCA5 gene only appear to cause defects in the retina.

These mutations are relatively rare as LCA5 is a recessive gene, which means a child would need to be carrying two copies of it to develop LCA; one from each parent. The disorder is more common, however, in populations where marriage to first and second cousins are common.

Clinical trials, which are being run by scientists at Moorfields Eye Hospital, London, UK are already underway involving the injection of genes into the eyes of patients with LCA to help restore their sight.