{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T06:55:07Z","timestamp":1774421707068,"version":"3.50.1"},"reference-count":47,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T00:00:00Z","timestamp":1692662400000},"content-version":"vor","delay-in-days":233,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/J004189\/1"],"award-info":[{"award-number":["MR\/J004189\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001311","name":"Ulverscroft Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001311","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"MRC","doi-asserted-by":"publisher","award":["MRC\/N004566\/1"],"award-info":[{"award-number":["MRC\/N004566\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Achiasmia is a rare visual pathway maldevelopment with reduced decussation of the axons in the optic chiasm. Our aim was to investigate clinical characteristics, macular, optic nerve and brain morphology in achiasmia. A prospective, cross-sectional, observational study of 12 participants with achiasmia [8 males and 4 females; 29.6 \u00b1 18.4 years (mean \u00b1 standard deviation)] and 24 gender-, age-, ethnicity- and refraction-matched healthy controls was done. Full ophthalmology assessment, eye movement recording, a high-resolution spectral-domain optical coherence tomography of the macular and optic disc, five-channel visual-evoked responses, eye movement recordings and MRI scans of the brain and orbits were acquired. Achiasmia was confirmed in all 12 clinical participants by visual-evoked responses. Visual acuity in this group was 0.63 \u00b1 0.19 and 0.53 \u00b1 0.19 for the right and left eyes, respectively; most participants had mild refractive errors. All participants with achiasmia had see-saw nystagmus and no measurable stereo vision. Strabismus and abnormal head position were noted in 58% of participants. Optical coherence tomography showed optic nerve hypoplasia with associated foveal hypoplasia in four participants. In the remaining achiasmia participants, macular changes with significantly thinner paracentral inner segment (P = 0.002), wider pit (P = 0.04) and visual flattening of the ellipsoid line were found. MRI demonstrated chiasmatic aplasia in 3\/12 (25%), chiasmatic hypoplasia in 7\/12 (58%) and a subjectively normal chiasm in 2\/12 (17%). Septo-optic dysplasia and severe bilateral optic nerve hypoplasia were found in three patients with chiasmic aplasia\/hypoplasia on MRI. In this largest series of achiasmia patients to date, we found for the first time that neuronal abnormalities occur already at the retinal level. Foveal changes, optic nerve hypoplasia and the midline brain anomaly suggest that these abnormalities could be part of the same spectrum, with different manifestations of events during foetal development occurring with varying severity.<\/jats:p>","DOI":"10.1093\/braincomms\/fcad219","type":"journal-article","created":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T13:48:09Z","timestamp":1692712089000},"source":"Crossref","is-referenced-by-count":3,"title":["Clinical features and imaging characteristics in achiasmia"],"prefix":"10.1093","volume":"5","author":[{"given":"Anastasia","family":"Pilat","sequence":"first","affiliation":[{"name":"Department of Neuroscience, Psychology and Behaviour, University of Leicester , Leicester , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca J","family":"McLean","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Psychology and Behaviour, University of Leicester , Leicester , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Vanina","sequence":"additional","affiliation":[{"name":"Eleanor Cross Healthcare , Northampton , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert A","family":"Dineen","sequence":"additional","affiliation":[{"name":"Division of Clinical Neuroscience, Queen\u2019s Medical Centre, Radiological Sciences, University of Nottingham , Nottingham , UK"},{"name":"NIHR Nottingham Biomedical Research Centre, Queen\u2019s Medical Centre, University of Nottingham , Nottingham , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Gottlob","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Psychology and Behaviour, University of Leicester , Leicester , UK"},{"name":"Department of Neurology, Cooper University Hospital, Cooper Neurological Institute , Camden , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,8,22]]},"reference":[{"issue":"8","key":"2023082518003185100_fcad219-B1","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1002\/ca.22385","article-title":"The optic chiasm","volume":"27","author":"Kidd","year":"2014","journal-title":"Clin Anat"},{"issue":"1","key":"2023082518003185100_fcad219-B2","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.tins.2014.09.005","article-title":"Congenital visual pathway abnormalities: A window onto cortical stability and plasticity","volume":"38","author":"Hoffmann","year":"2015","journal-title":"Trends Neurosci"},{"issue":"11","key":"2023082518003185100_fcad219-B3","doi-asserted-by":"crossref","first-page":"858","DOI":"10.4103\/0301-4738.171970","article-title":"Nondecussating retinal-fugal fiber syndrome: Clinical and neuroimaging clues to 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