{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T03:09:04Z","timestamp":1792120144677,"version":"4.4.0"},"reference-count":80,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,12,4]],"date-time":"2018-12-04T00:00:00Z","timestamp":1543881600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Brain Mapping"],"published-print":{"date-parts":[[2019,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Albinism refers to a group of genetic abnormalities in melanogenesis that are associated neuronal misrouting through the optic chiasm. We perform quantitative assessment of visual pathway structure and function in 23 persons with albinism (PWA) and 20 matched controls using optical coherence tomography (OCT), volumetric magnetic resonance imaging (MRI), diffusion tensor imaging and visual evoked potentials (VEP). PWA had a higher streamline decussation index (percentage of total tractography streamlines decussating at the chiasm) compared with controls (<jats:italic>Z<\/jats:italic>\u2009=\u2009\u22122.24, <jats:italic>p<\/jats:italic>\u2009=\u2009.025), and streamline decussation index correlated weakly with inter\u2010hemispheric asymmetry measured using VEP (<jats:italic>r\u2009=<\/jats:italic>\u2009.484, <jats:italic>p<\/jats:italic>\u2009=\u2009.042). For PWA, a significant correlation was found between foveal development index and total number of streamlines (<jats:italic>r\u2009=<\/jats:italic>\u2009.662, <jats:italic>p<\/jats:italic>\u2009&lt;\u2009.001). Significant positive correlations were found between peri\u2010papillary retinal nerve fibre layer thickness and optic nerve (<jats:italic>r\u2009=<\/jats:italic>\u2009.642, <jats:italic>p<\/jats:italic>\u2009&lt;\u2009.001) and tract (<jats:italic>r\u2009=<\/jats:italic>\u2009.663, <jats:italic>p<\/jats:italic>\u2009&lt;\u2009.001) width. Occipital pole cortical thickness was 6.88% higher (<jats:italic>Z<\/jats:italic>\u2009=\u2009\u22124.10, <jats:italic>p<\/jats:italic>\u2009&lt;\u2009.001) in PWA and was related to anterior visual pathway structures including foveal retinal pigment epithelium complex thickness (<jats:italic>r\u2009=<\/jats:italic>\u2009\u2212.579, <jats:italic>p<\/jats:italic>\u2009=\u2009.005), optic disc (<jats:italic>r\u2009=<\/jats:italic>\u2009.478, <jats:italic>p<\/jats:italic>\u2009=\u2009.021) and rim areas (<jats:italic>r\u2009=<\/jats:italic>\u2009.597, <jats:italic>p<\/jats:italic>\u2009=\u2009.003). We were unable to demonstrate a significant relationship between OCT\u2010derived foveal or optic nerve measures and MRI\u2010derived chiasm size or streamline decussation index. Our novel tractographic demonstration of altered chiasmatic decussation in PWA corresponds to VEP measured cortical asymmetry and is consistent with chiasmatic misrouting in albinism. We also demonstrate a significant relationship between retinal pigment epithelium and visual cortex thickness indicating that retinal pigmentation defects in albinism lead to downstream structural reorganisation of the visual cortex.<\/jats:p>","DOI":"10.1002\/hbm.24411","type":"journal-article","created":{"date-parts":[[2018,12,4]],"date-time":"2018-12-04T11:25:21Z","timestamp":1543922721000},"page":"777-788","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Aberrant visual pathway development in albinism: From retina to cortex"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9614-5033","authenticated-orcid":false,"given":"Sarim","family":"Ather","sequence":"first","affiliation":[{"name":"Nuffield Department of Surgical Sciences University of Oxford  Oxford United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank Anthony","family":"Proudlock","sequence":"additional","affiliation":[{"name":"University of Leicester Ulverscroft Eye Unit Robert Kilpatrick Clinical Sciences Building  Leicester United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Welton","sequence":"additional","affiliation":[{"name":"Radiological Sciences, Division of Clinical Neuroscience University of Nottingham, Queen's Medical Centre  Nottingham United Kingdom"},{"name":"Sir Peter Mansfield Imaging Centre, University of Nottingham Queen's Medical Centre  Nottingham United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul S.","family":"Morgan","sequence":"additional","affiliation":[{"name":"Sir Peter Mansfield Imaging Centre, University of Nottingham Queen's Medical Centre  Nottingham United Kingdom"},{"name":"Medical Physics and Clinical Engineering, Nottingham University Hospitals NHS Trust Queen's Medical Centre  Nottingham United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viral","family":"Sheth","sequence":"additional","affiliation":[{"name":"University of Leicester Ulverscroft Eye Unit Robert Kilpatrick Clinical Sciences Building  Leicester United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Gottlob","sequence":"additional","affiliation":[{"name":"University of Leicester Ulverscroft Eye Unit Robert Kilpatrick Clinical Sciences Building  Leicester United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9523-2546","authenticated-orcid":false,"given":"Rob A.","family":"Dineen","sequence":"additional","affiliation":[{"name":"Radiological Sciences, Division of Clinical Neuroscience University of Nottingham, Queen's Medical Centre  Nottingham United Kingdom"},{"name":"Sir Peter Mansfield Imaging Centre, University of Nottingham Queen's Medical Centre  Nottingham United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,12,4]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"53","article-title":"Altered organization of the visual cortex in FHONDA syndrome","author":"Ahmadi K.","year":"2018","journal-title":"NeuroImage"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1996.01100130605021"},{"key":"e_1_2_7_4_1","first-page":"2165","article-title":"A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3\u201024.1","volume":"19","author":"Al\u2010Araimi M.","year":"2013","journal-title":"Molecular Vision"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/nimg.2001.1039"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0013-4694(83)90162-1"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.903300108"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/nbm.782"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mrm.10609"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1749-8104-9-11"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.11.4297"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp279"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cortex.2012.08.010"},{"key":"e_1_2_7_14_1","first-page":"2332","article-title":"The interpretation of optical coherence tomography images of the retina","volume":"40","author":"Chauhan D. 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