{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:43:56Z","timestamp":1787028236099,"version":"build-2736575974"},"reference-count":94,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2023,12,9]],"date-time":"2023-12-09T00:00:00Z","timestamp":1702080000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Optic neuritis (ON) is an inflammatory condition affecting the optic nerve, leading to vision impairment and potential vision loss. This manuscript aims to provide a comprehensive review of the current understanding of ON, including its definition, epidemiology, physiology, genetics, molecular pathways, therapy, ongoing clinical studies, and future perspectives. ON is characterized by inflammation of the optic nerve, often resulting from an autoimmune response. Epidemiological studies have shown a higher incidence in females and an association with certain genetic factors. The physiology of ON involves an immune-mediated attack on the myelin sheath surrounding the optic nerve, leading to demyelination and subsequent impairment of nerve signal transmission. This inflammatory process involves various molecular pathways, including the activation of immune cells and the release of pro-inflammatory cytokines. Genetic factors play a significant role in the susceptibility to ON. Several genes involved in immune regulation and myelin maintenance have been implicated in the disease pathogenesis. Understanding the genetic basis can provide insights into disease mechanisms and potential therapeutic targets. Therapy for ON focuses on reducing inflammation and promoting nerve regeneration. Future perspectives involve personalized medicine approaches based on genetic profiling, regenerative therapies to repair damaged myelin, and the development of neuroprotective strategies. Advancements in understanding molecular pathways, genetics, and diagnostic tools offer new opportunities for targeted therapies and improved patient outcomes in the future.<\/jats:p>","DOI":"10.3390\/genes14122192","type":"journal-article","created":{"date-parts":[[2023,12,11]],"date-time":"2023-12-11T06:56:00Z","timestamp":1702277760000},"page":"2192","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Uncovering the Genetics and Physiology behind Optic Neuritis"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6737-2779","authenticated-orcid":false,"given":"Ilaria","family":"Del Negro","sequence":"first","affiliation":[{"name":"Clinical Neurology Unit, Head-Neck and Neurosciences Department, Santa Maria della Misericordia University Hospital, 33100 Udine, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giada","family":"Pauletto","sequence":"additional","affiliation":[{"name":"Neurology Unit, Head-Neck and Neurosciences Department, Santa Maria della Misericordia University Hospital, 33100 Udine, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5301-8621","authenticated-orcid":false,"given":"Lorenzo","family":"Verriello","sequence":"additional","affiliation":[{"name":"Neurology Unit, Head-Neck and Neurosciences Department, Santa Maria della Misericordia University Hospital, 33100 Udine, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1190-3956","authenticated-orcid":false,"given":"Leopoldo","family":"Spadea","sequence":"additional","affiliation":[{"name":"Eye Clinic, Policlinico Umberto I, \u201cSapienza\u201d University of Rome, 00142 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Salati","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Head-Neck and Neurosciences Department, Santa Maria della Misericordia University Hospital, 33100 Udine, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3741-0639","authenticated-orcid":false,"given":"Tamara","family":"Ius","sequence":"additional","affiliation":[{"name":"Neurosurgery Unit, Head-Neck and Neurosciences Department, Santa Maria della Misericordia University Hospital of Udine, 33100 Udine, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0999-5545","authenticated-orcid":false,"given":"Marco","family":"Zeppieri","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Head-Neck and Neurosciences Department, Santa Maria della Misericordia University Hospital, 33100 Udine, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,12,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1007\/s00439-022-02514-0","article-title":"Mendelian randomization analysis reveals causal relationships between gut microbiome and optic neuritis","volume":"142","author":"Liu","year":"2023","journal-title":"Hum. 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