{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T12:54:40Z","timestamp":1774270480516,"version":"3.50.1"},"reference-count":130,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2023,3,7]],"date-time":"2023-03-07T00:00:00Z","timestamp":1678147200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"NIH","award":["R01EY032396"],"award-info":[{"award-number":["R01EY032396"]}]},{"name":"NIH","award":["R01EY010542"],"award-info":[{"award-number":["R01EY010542"]}]},{"name":"NIH","award":["R01DC019057"],"award-info":[{"award-number":["R01DC019057"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Synaptic ribbons are presynaptic protein complexes that are believed to be important for the transmission of sensory information in the visual system. Ribbons are selectively associated with those synapses where graded changes in membrane potential drive continuous neurotransmitter release. Defective synaptic transmission can arise as a result of the mutagenesis of a single ribbon component. Visual diseases that stem from malfunctions in the presynaptic molecular machinery of ribbon synapses in the retina are rare. In this review, we provide an overview of synaptopathies that give rise to retinal malfunction and our present understanding of the mechanisms that underlie their pathogenesis and discuss muscular dystrophies that exhibit ribbon synapse involvement in the pathology.<\/jats:p>","DOI":"10.3390\/ijms24065090","type":"journal-article","created":{"date-parts":[[2023,3,8]],"date-time":"2023-03-08T02:30:23Z","timestamp":1678242623000},"page":"5090","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Ribbon Synapses and Retinal Disease: Review"],"prefix":"10.3390","volume":"24","author":[{"given":"Courtney E.","family":"Frederick","sequence":"first","affiliation":[{"name":"Department of Molecular and Cellular Physiology, Yale University School of Medicine, 333 Cedar Street, P.O. Box 208026, New Haven, CT 06510, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Zenisek","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Physiology, Yale University School of Medicine, 333 Cedar Street, P.O. Box 208026, New Haven, CT 06510, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.tins.2004.11.009","article-title":"Structure and function of ribbon synapses","volume":"28","author":"Sterling","year":"2005","journal-title":"Trends Neurosci."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1083\/jcb.200408157","article-title":"Molecular dissection of the photoreceptor ribbon synapse: Physical interaction of Bassoon and RIBEYE is essential for the assembly of the ribbon complex","volume":"168","author":"Dieck","year":"2005","journal-title":"J. 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