Drs Joe Casey and Yves Sauve from the University of Alberta found that characterization of a mouse model with a targeted disruption of the Slc4a3 gene is the new source of blindness.
The previously unrecognised cause of blindness has direct clinical implications. It gives rise to a new diagnostic possibility for many yet unknown causes of blindness, including hereditary vitreoretinal degenerations (HVDs). No link has been established between Slc4a3 and HVDs.
The similarities between the disease of Slc4a3 deficient mice and individuals with HVDs, however, suggest that Slc4a3 null mice represent the first model of these blinding conditions, for which there is no cure.
Their findings thus lead to the conclusion that approaches targeting retinal extracellular pH regulation are worth exploring as treatments for HVDs and perhaps other types of blindness.