{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T09:03:59Z","timestamp":1784624639282,"version":"3.55.0"},"reference-count":35,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T00:00:00Z","timestamp":1776729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T00:00:00Z","timestamp":1776729600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100005762","name":"National Taiwan University Hospital","doi-asserted-by":"publisher","award":["111G\u2010003"],"award-info":[{"award-number":["111G\u2010003"]}],"id":[{"id":"10.13039\/501100005762","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Sialidosis type I (ST\u20101) is a rare lysosomal storage disease (LSD) caused by\n                    <jats:italic>NEU1<\/jats:italic>\n                    gene mutations, leading to progressive neurological and visual dysfunction. The classical macular cherry\u2010red spot (CRS) is considered a hallmark ocular sign, but its diagnostic value, particularly in older patients, remains unclear. This study aimed to characterize ocular manifestations and evaluate optical coherence tomography (OCT) reflectivity as a potential structural biomarker of neurological function. In this 2\u2010year prospective cohort study, 15 genetically confirmed ST\u20101 patients underwent neurological evaluations every 6\u2009months and annual ophthalmic assessments including best\u2010corrected visual acuity (BCVA), fundus photography, OCT, and visual evoked potential (VEP). OCT reflectivity of the inner retina (\n                    <jats:italic>R<\/jats:italic>\n                    <jats:sub>in<\/jats:sub>\n                    ) and ellipsoid zone at the foveola (\n                    <jats:italic>R<\/jats:italic>\n                    <jats:sub>ez<\/jats:sub>\n                    ) was quantified using greyscale analysis. Fifteen age\u2010matched healthy controls were included for comparison. CRS was present in 46.7% of patients, predominantly in younger individuals. OCT revealed significantly elevated\n                    <jats:italic>R<\/jats:italic>\n                    <jats:sub>in<\/jats:sub>\n                    and\n                    <jats:italic>R<\/jats:italic>\n                    <jats:sub>ez<\/jats:sub>\n                    in ST\u20101 patients compared to controls (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.0001), including in those without clinically visible CRS. OCT reflectivity was strongly associated with neurological severity but not with BCVA. Conversely, BCVA correlated with parafoveal and ganglion cell complex thinning and with delayed VEP latency. Age\u2010related declines in reflectivity, retinal thickness, and BCVA were observed in ST\u20101 but not in controls. These findings highlight OCT reflectivity is a more sensitive biomarker than the CRS for diagnosing ST\u20101 and reflects neurological severity even in patients without visible CRS. Importantly, the structure\u2013function relationship between OCT parameters and neurological outcomes suggests broader applicability in LSD and other neurodegenerative conditions.\n                  <\/jats:p>","DOI":"10.1002\/jimd.70191","type":"journal-article","created":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T11:03:37Z","timestamp":1776769417000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Optical Coherence Tomography Reflectivity as a Diagnostic Tool and Neurological Biomarker in Sialidosis Type I"],"prefix":"10.1002","volume":"49","author":[{"given":"Teck Boon","family":"Tew","sequence":"first","affiliation":[{"name":"Department of Ophthalmology National Taiwan University Hospital  Taipei Taiwan"},{"name":"Department of Ophthalmology National Taiwan University Hospital Hsinchu Branch  Hsinchu Taiwan"},{"name":"Graduate Institute of Clinical Medicine, College of Medicine National Taiwan University  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chin\u2010Hsien","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neurology National Taiwan University Hospital  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsueh\u2010Wen","family":"Hsueh","sequence":"additional","affiliation":[{"name":"Department of Neurology National Taiwan University Hospital  Taipei Taiwan"},{"name":"Department of Neurology National Taiwan University Hospital Hsinchu Branch  Hsinchu Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung\u2010Pin","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Neurology National Taiwan University Hospital  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ni\u2010Chung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics National Taiwan University Hospital  Taipei Taiwan"},{"name":"Department of Pediatrics National Taiwan University Hospital  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8802-5728","authenticated-orcid":false,"given":"Yin\u2010Hsiu","family":"Chien","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics National Taiwan University Hospital  Taipei Taiwan"},{"name":"Department of Pediatrics National Taiwan University Hospital  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wuh\u2010Liang","family":"Hwu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics National Taiwan University Hospital  Taipei Taiwan"},{"name":"Department of Pediatrics National Taiwan University Hospital  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5766-3057","authenticated-orcid":false,"given":"Chao\u2010Wen","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology National Taiwan University Hospital  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,4,21]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572\u2010018\u20100025\u20104"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2008.05.005"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2019.09.005"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010009\u20105213\u20104"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468\u20101331.2009.02622.x"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jfma.2019.07.017"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1316"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.18.2715"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000482"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr\u20102014\u2010205871"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1517\/21678707.2015.1025746"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.3233\/TRD\u2010160005"},{"key":"e_1_2_12_14_1","volume-title":"StatPearls","author":"Tripathy K.","year":"2025"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol\u20102020\u2010316826"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000219042.60538.92"},{"key":"e_1_2_12_17_1","first-page":"361","article-title":"The Unified Myoclonus Rating Scale","volume":"89","author":"Frucht S. 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