Pathogenic Cav1.4 variants differentially affect retinal pathways
…transmission of visual signals from photoreceptors to bipolar cells. Here, we investigated the effect of the Cav1.4 C-terminal truncation variant R1827X (RX) - lacking an intramolecular mechanism, necessary for continuous calcium influx- in mouse retinas and compared the phenotype to the apparent Cav1.4 gain-of-function variant I745T (IT). Whereas the significant decrease in the Cav1.4 protein can be attributed to a loss of photor