ScienceDaily (Sep. 10, 2007) — The scientific community is just starting to appreciate the importance of pH regulation in normal vision, according to researchers. Drs Joe Casey and Yves Sauvé found evidence for blindness associated with a gene involved in retinal pH regulation. 

Their characterization of a mouse model with a targeted disruption of the Slc4a3 gene has revealed a new cause of blindness. Identification of Slc4a3 as underlying a previously unrecognized cause of blindness has direct clinical implications: it opens the door 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.

Citation: Alvarez BV, Gilmour GS, Mema SC, Martin BT, Shull GE, et al (2007) Blindness Caused by Deficiency in AE3 Chloride/Bicarbonate Exchanger. PLoS One 2(9): e839. doi:10.1371/journal.pone.0000839

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