A New Splicing Isoform of Cacna2d4 Mimicking the Effects of c.2451insC Mutation in the Retina: Novel Molecular and Electrophysiological Insights

PURPOSE. Mutations in CACNA2D4 exon 25 cause photoreceptor dysfunction in humans (c. 2406C -> A mutation) and mice (c. 2451insC mutation). We investigated the feasibility of an exon-skipping therapeutic approach by evaluating the splicing patterns and functional role of targeted exons.