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Cav1.4 channel gating properties are controlled by accessory subunits, associated regulatory proteins, and also alternative splicing. In humans, mutations in the <jats:italic>CACNA1F<\/jats:italic> gene encoding for Cav1.4 channels are associated with X-linked retinal disorders such as congenital stationary night blindness type 2. Mutations in the Cav1.4 protein result in a spectrum of altered functional channel activity. Several mouse models broadened our understanding of the role of Cav1.4 channels not only as Ca<jats:sup>2+<\/jats:sup> source at retinal synapses but also as synaptic organizers. In this review, we highlight different structural and functional phenotypes of Cav1.4 mutations that might also occur in patients with congenital stationary night blindness type 2. A further important yet mostly neglected aspect that we discuss is the influence of alternative splicing on channel dysfunction. We conclude that currently available functional phenotyping strategies should be refined and summarize potential specific therapeutic options for patients carrying Cav1.4 mutations. Importantly, the development of new therapeutic approaches will permit a deeper understanding of not only the disease pathophysiology but also the physiological function of Cav1.4 channels in the retina.<\/jats:p>","DOI":"10.1007\/s00424-021-02570-x","type":"journal-article","created":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T16:09:35Z","timestamp":1625155775000},"page":"1437-1454","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Cav1.4 dysfunction and congenital stationary night blindness type 2"],"prefix":"10.1007","volume":"473","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5758-1166","authenticated-orcid":false,"given":"Alexandra","family":"Koschak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6811-6283","authenticated-orcid":false,"given":"Monica L.","family":"Fernandez-Quintero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1571-8579","authenticated-orcid":false,"given":"Thomas","family":"Heigl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Ruzza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2100-4193","authenticated-orcid":false,"given":"Hartwig","family":"Seitter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Zanetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,7,1]]},"reference":[{"key":"2570_CR1","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1080\/13816810.2018.1498526","volume":"39","author":"E Abdelkader","year":"2018","unstructured":"Abdelkader E, AlHilali S, Neuhaus C, Bergmann C, AlMurshed T, Schatz P (2018) Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F. 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