{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,12]],"date-time":"2025-05-12T16:33:21Z","timestamp":1747067601614,"version":"3.37.3"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,2,4]],"date-time":"2024-02-04T00:00:00Z","timestamp":1707004800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,2,4]],"date-time":"2024-02-04T00:00:00Z","timestamp":1707004800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Int J Retin Vitr"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Purpose<\/jats:title>\n                <jats:p>Tuberous Sclerosis (TS) is a rare, multisystem genetic disease caused by mutations in the TSC1 and TSC2 genes, leading to abnormalities in cell differentiation and proliferation. This study aimed to evaluate the neural integrity of individuals with TS by using Optical Coherence Tomography (OCT) to examine the peripapillary retinal nerve fiber layer (RNFL) thickness and the macular thickness in patients with TS and to compare with healthy controls.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Peripapillary and macular OCT scans (Optopol Revo NX SD OCT) were performed on 41 eyes from 22 TS patients, divided into two groups based on the presence of retinal hamartomas, and compared to 20 eyes from a control group. The average peripapillary RNFL thickness was measured for each quadrant. The macular total thickness and ganglion cell layer (GCL)\u2009+\u2009inner plexiform layer (IPL) thickness were measured based on the Early Treatment Diabetic Retinopathy Study (ETDRS) map. All measurements were then compared between the groups and controls.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The TS group showed significantly reduced RNFL thickness and macular thickness when compared to the control group. Specifically, patients with retinal hamartomas exhibited an even more pronounced thinning of both RNFL and macular thickness.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>These findings suggest that TS patients undergo significant changes in retinal neurodevelopment and experience axonal loss. This finding may have significant prognostic utility regarding central nervous system degeneration in TS, particularly among patients with retinal hamartomas. OCT may serve as a valuable tool for assessing axonal structural abnormalities in TS patients.<\/jats:p>\n                <jats:p><jats:italic>Trial Registration Number<\/jats:italic>: Not applicable.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s40942-024-00535-7","type":"journal-article","created":{"date-parts":[[2024,2,4]],"date-time":"2024-02-04T15:02:08Z","timestamp":1707058928000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Optical coherence tomography detection of retinal neural loss in patients with tuberous sclerosis"],"prefix":"10.1186","volume":"10","author":[{"given":"Paula Basso","family":"Dias","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Carolina Badotti","family":"Linhares","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Barbara Dias Lopes","family":"Urzedo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rony Carlos","family":"Preti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leandro Cabral","family":"Zacharias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonardo Provetti","family":"Cunha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1rio Luiz Ribeiro","family":"Monteiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2897-6833","authenticated-orcid":false,"given":"Kenzo","family":"Hokazono","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,2,4]]},"reference":[{"issue":"13","key":"535_CR1","doi-asserted-by":"publisher","first-page":"1345","DOI":"10.1056\/NEJMra055323","volume":"355","author":"PB Crino","year":"2006","unstructured":"Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355(13):1345\u201356.","journal-title":"N Engl J Med"},{"issue":"4","key":"535_CR2","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1016\/j.pediatrneurol.2013.08.001","volume":"49","author":"H Northrup","year":"2013","unstructured":"Northrup H, Krueger DA, ITSCC Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of. Pediatr Neurol. 2013;49(4):243\u201354.","journal-title":"Pediatr Neurol"},{"issue":"1","key":"535_CR3","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1111\/ceo.12806","volume":"45","author":"N Hodgson","year":"2017","unstructured":"Hodgson N, et al. Ophthalmic manifestations of tuberous sclerosis: a review. 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(CAAE: 64463722.4.0000.0096. Approval Number: 5.840.427).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"A consent form has been obtained from all research participants in accordance with the journal\u2019s patient consent policy.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"15"}}