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Optical coherence tomography (OCT) is established to detect retinal degeneration in vivo. We examined NPC1-patients (NPC1-P), clinically asymptomatic NPC1-mutation carriers (NPC1-MC), and healthy controls (HC) to (1) identify retinal degeneration in NPC1-disease and (2) to investigate possible subclinical retinal degeneration in NPC1-MC.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Methods<\/jats:title>\n<jats:p>Fourteen NPC1-P, 17 NPC1-MC, and 31 age-matched HC were examined using spectral-domain OCT. Neurological examinations, clinical scales [modified Disability Rating Scale (mDRS); Scale for the Rating and Assessment of Ataxia (SARA); Spinocerebellar Ataxia Functional Index (SCAFI)], and video-oculography (VOG) were correlated with OCT data.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>Macular retinal nerve fiber layer and volumes of combined ganglion cell and inner plexiform layer were significantly lower in NPC1-P compared to HC [mRNFL (\u00b5m):0.13\u2009\u00b1\u20090.01 vs. 0.14\u2009\u00b1\u20090.02; <jats:italic>p<\/jats:italic>\u2009=\u20090.01; GCIPL (mm<jats:sup>3<\/jats:sup>):0.60\u2009\u00b1\u20090.05 vs. 0.62\u2009\u00b1\u20090.04; <jats:italic>p<\/jats:italic>\u2009=\u20090.04]. No significant differences were found in NPC1-MC in comparison to HC. In NPC1-P, the amplitude of upward vertical saccades showed positive associations with peripapillary RNFL (<jats:italic>\u03c1<\/jats:italic>\u2009=\u20090.645; <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05), and thinned GCIP (<jats:italic>\u03c1<\/jats:italic>\u2009=\u20090.609; <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05), but not in NPC1-MC. In NPC1-P correlations between combined outer plexiform layer and outer nuclear layer (OPONL) with mDRS (<jats:italic>r<\/jats:italic>\u2009=\u2009\u2212\u00a00.617; <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05) and GCIP with SARA (<jats:italic>r<\/jats:italic>\u2009=\u2009\u2212\u00a00.622; <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.05) were observed. Furthermore, in NPC1-MC, motor scores were negatively associated with pRNFL (<jats:italic>\u03c1<\/jats:italic>\u2009=\u2009\u2212\u00a00.677;<jats:italic> p<\/jats:italic>\u2009&lt;\u20090.01).<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusions<\/jats:title>\n<jats:p>Using OCT, we showed retinal degeneration in NPC1-P and significant correlation between retinal neuroaxonal degeneration with clinical measurements. We observed a non-significant trend of retinal degeneration in NPC1-MC correlating with subclinical motor abnormalities. Based on these preliminary data, OCT may be an important marker of neurodegeneration in NPC1-disease after onset of clinical symptoms.<\/jats:p>\n<\/jats:sec>","DOI":"10.1007\/s00415-020-09796-2","type":"journal-article","created":{"date-parts":[[2020,3,28]],"date-time":"2020-03-28T22:02:40Z","timestamp":1585432960000},"page":"2070-2082","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Retinal axonal degeneration in Niemann\u2013Pick type C disease"],"prefix":"10.1007","volume":"267","author":[{"given":"Joachim","family":"Havla","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marlene","family":"Moser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clara","family":"Sztatecsny","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amelie S.","family":"Lotz-Havla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esther M.","family":"Maier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Baccara","family":"Hizli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina","family":"Schinner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tania","family":"K\u00fcmpfel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Strupp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiana","family":"Bremova-Ertl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne A.","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,3,28]]},"reference":[{"key":"9796_CR1","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1750-1172-5-16","volume":"5","author":"MT Vanier","year":"2010","unstructured":"Vanier MT (2010) Niemann-Pick disease type C. 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MS is Joint Chief Editor of the Journal of Neurology, Editor in Chief of Frontiers of Neurootology and Section Editor of F1000. He has received speaker\u2019s honoraria from Abbott, Actelion, Auris Medical, Biogen, Eisai, Gr\u00fcnenthal, GSK, Henning Pharma, Interacoustics, Merck, MSD, Otometrics, Pierre-Fabre, TEVA, UCB. He is a shareholder of IntraBio. He acts as a consultant for Abbott, Actelion, AurisMedical, Heel, IntraBio, and Sensorion. TBE received honoraria for lecturing from Actelion and Sanofi-Genzyme. SAS has received honoraria from Actelion Pharma. TK has received travel expenses and speaker honoraria from Bayer Vital, Teva Pharma, Merck, Novartis Pharma, Sanofi-Aventis\/Genzyme, CLS Behring, Roche Pharma and Biogen as well as grant support from Bayer-Schering AG, Novartis and Chugai Pharma. AL-H has received travel expenses from BioMarin. EM has received travel reimbursement from Sobi and Dr. Sch\u00e4r and was paid for advisory services from Sobi and Biomarin. All other authors (MM, CS, BH, RS, and SAS) have nothing to disclose and no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"The study was performed in accordance with the Helsinki II Declaration and approved by the ethics committee of the Ludwig-Maximilians-University, Munich, Medical Faculty (part of project no 280-16).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"All participants (or their legal representatives) gave written informed consent.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}