Autosomal Recessive Night Blindness Research Articles

Glutamate, a key neurotransmitter in the vertebrate retina, acts via ionotropic and metabotropic receptors. Retina expresses mRNA for all metabotropic glutamate receptors and proteins for all but mGluR3. Every retinal cell class expresses one or more of these receptors. In general, these receptors are present presynaptically and serve to modulate synaptic transmission. While mGluRs on the photoreceptor terminal act as autoreceptors to titer glutamate levels, those on horizontal cell processes seem to shape the light response. Similarly, autoreceptors on bipolar axon terminals modulate glutamate release and the receptors on amacrine and ganglion cells modulate feedforward signals by modulating K+ or Ca2+ current to fine tune light responses. Since most of the mGluR sub-types are present in amacrine and ganglion cells that belong to many cell types, the pathways downstream of mGluRs are highly diverse with primarily modulatory effects. An exception to most mGluRs which have modulatory function is mGluR6 because it plays a key role in the feedforward transmission from photoreceptors to ON bipolar cells and is also required for the correct localization of the synaptic proteins in the dendritic tips. In humans, mutations in the gene encoding mGluR6 cause autosomal recessive night blindness. In addition, mGluRs appear to play a trophic role in development and after retinal damage, suggesting potential future therapeutic implications.