{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T11:57:09Z","timestamp":1779364629562,"version":"3.53.0"},"reference-count":16,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T00:00:00Z","timestamp":1677196800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001824","name":"Grantov\u00e1 Agentura \u010cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["19\u201301747S"],"award-info":[{"award-number":["19\u201301747S"]}],"id":[{"id":"10.13039\/501100001824","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["AZV\u2013NU20\u201304\u20130136"],"award-info":[{"award-number":["AZV\u2013NU20\u201304\u20130136"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013278","name":"EU Joint Programme \u2013 Neurodegenerative Disease Research","doi-asserted-by":"publisher","award":["8F19004"],"award-info":[{"award-number":["8F19004"]}],"id":[{"id":"10.13039\/100013278","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"crossref","award":["Programme\u00a0EXCELES, ID Project No. LX22NPO5107"],"award-info":[{"award-number":["Programme\u00a0EXCELES, ID Project No. LX22NPO5107"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Charles Univesity","award":["Cooperatio Program in Neuroscience"],"award-info":[{"award-number":["Cooperatio Program in Neuroscience"]}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:sec id=\"sec001\">\n<jats:title>Aim of the study<\/jats:title>\n<jats:p>Comparative cross-sectional study of retinal parameters in Huntington\u2019s disease and their evaluation as marker of disease progression.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec002\">\n<jats:title>Clinical rationale for the study<\/jats:title>\n<jats:p>Huntington\u2019s disease (HD) is a neurodegenerative disorder with dominant motor and neuropsychiatric symptoms. Involvement of sensory functions in HD has been investigated, however studies of retinal pathology are incongruent. Effect sizes of previous findings were not published. OCT data of the subjects in previous studies have not been published. Additional examination of structural and functional parameters of retina in larger sample of patients with HD is warranted.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec003\">\n<jats:title>Materials and methods<\/jats:title>\n<jats:p>This is a prospective cross-sectional study that included: peripapillary retinal nerve fiber layer thickness (RNFL) and total macular volume (TMV) measured by spectral domain optical coherence tomography (OCT) of retina, Pelli-Robson Contrast Sensitivity test, Farnsworth 15 Hue Color discrimination test, ophthalmology examination and Unified Huntington\u2019s disease Rating Scale (UHDRS). Ninety-four eyes of 41 HD patients examined in total 47 visits and 82 eyes of 41 healthy controls (HC) examined in total 41 visits were included. Analyses were performed by repeated measures linear mixed effects model with age and gender as covariates. False discovery rate was corrected by Benjamini-Hochberg procedure.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec004\">\n<jats:title>Results<\/jats:title>\n<jats:p>HD group included 21 males and 20 females (age 50.6\u00b112.0 years [mean \u00b1 standard deviation], disease duration 7.1\u00b13.6 years, CAG triplet repeats 44.1\u00b12.4). UHDRS Total Motor Score (TMS) was 30.0\u00b112.3 and Total Functional Capacity 8.2\u00b13.2. Control group (HC) included 19 males and 22 females with age 48.2\u00b110.3 years. There was no statistically significant difference between HD and HC in age. The effect of the disease was not significant in temporal segment RNFL thickness. It was significant in the mean RNFL thickness and TMV, however not passing false discovery rate adjustment and with small effect size. In the HD group, the effect of disease duration and TMS was not significant. The Contrast Sensitivity test in HD was within normal limits and the 15-hue-test in HD did not reveal any specific pathology.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec005\">\n<jats:title>Conclusions<\/jats:title>\n<jats:p>The results of our study support possible diffuse retinal changes in global RNFL layer and in macula in Huntington\u2019s disease, however, these changes are small and not suitable as a biomarker for disease progression. We found no other structural or functional changes in retina of Huntington\u2019s disease patients using RNFL layer and macular volume spectral domain OCT and Contrast Sensitivity Test and 15-hue-test.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec006\">\n<jats:title>Clinical implications<\/jats:title>\n<jats:p>Current retinal parameters are not appropriate for monitoring HD disease progression.<\/jats:p>\n<\/jats:sec>","DOI":"10.1371\/journal.pone.0282175","type":"journal-article","created":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T18:32:50Z","timestamp":1677263570000},"page":"e0282175","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":15,"title":["Is retina affected in Huntington\u2019s disease? 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