Rescuing human light-sensors in childhood blindness

Scientists at the UCL Institute of Ophthalmology have identified the mechanism behind a common inherited cause of severe sight loss in young children. The results also point to a potential new treatment that may be possible to deliver by simple injection to the eye. Leber congenital amaurosis (LCA) is the name for a group of disorders that make up 5% of all inherited retinal dystrophies. These are conditions in which light-sensitive 'photoreceptor' cells in the layer of tissue at the back of the eye (the retina) degenerate and die, causing sight loss or blindness. Up to 1 in 4 people with LCA have faults in the gene CEP290. Several syndromes, e.g. Senior-Loken syndrome, are linked to different faults in the same gene and can affect multiple parts of the body. But almost everyone with CEP290-LCA has a specific fault that only affects photoreceptors and, until now, we didn't know why.