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dc.contributor.authorMorgan, Paul S
dc.contributor.authorDineen, Robert A
dc.date.accessioned2022-10-26T13:22:51Z
dc.date.available2022-10-26T13:22:51Z
dc.date.issued2019
dc.identifier.citationAther, S., Proudlock, F.A., Welton, T., Morgan, P.S., Sheth, V., Gottlob, I. and Dineen, R.A. (2019) 'Aberrant visual pathway development in albinism: From retina to cortex', Human brain mapping, 40(3), pp. 777-788. doi: https://dx.doi.org/10.1002/hbm.24411.en_US
dc.identifier.issn1097-0193
dc.identifier.urihttp://hdl.handle.net/20.500.12904/15893
dc.description.abstractAlbinism 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 (Z = -2.24, p = .025), and streamline decussation index correlated weakly with inter-hemispheric asymmetry measured using VEP (r = .484, p = .042). For PWA, a significant correlation was found between foveal development index and total number of streamlines (r = .662, p < .001). Significant positive correlations were found between peri-papillary retinal nerve fibre layer thickness and optic nerve (r = .642, p < .001) and tract (r = .663, p < .001) width. Occipital pole cortical thickness was 6.88% higher (Z = -4.10, p < .001) in PWA and was related to anterior visual pathway structures including foveal retinal pigment epithelium complex thickness (r = -.579, p = .005), optic disc (r = .478, p = .021) and rim areas (r = .597, p = .003). We were unable to demonstrate a significant relationship between OCT-derived foveal or optic nerve measures and MRI-derived 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. Copyright © 2018 Wiley Periodicals, Inc.
dc.description.urihttps://dx.doi.org/10.1002/hbm.24411en_US
dc.language.isoenen_US
dc.publisherJohn Wiley and Sons Ltden_US
dc.subjectAlbinismen_US
dc.subjectDiffusion tensor imagingen_US
dc.subjectEvoked potentialsen_US
dc.subjectMagnetic resonance imagingen_US
dc.titleAberrant visual pathway development in albinism: From retina to cortexen_US
dc.typeArticleen_US
rioxxterms.funderDefault funderen_US
rioxxterms.identifier.projectDefault projecten_US
rioxxterms.versionVoRen_US
rioxxterms.versionofrecord10.1002/hbm.24411en_US
rioxxterms.typeJournal Article/Reviewen_US
refterms.dateFCD2022-10-26T13:22:52Z
refterms.versionFCDVoR
refterms.panelUnspecifieden_US
refterms.dateFirstOnline2019
html.description.abstractAlbinism 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 (Z = -2.24, p = .025), and streamline decussation index correlated weakly with inter-hemispheric asymmetry measured using VEP (r = .484, p = .042). For PWA, a significant correlation was found between foveal development index and total number of streamlines (r = .662, p < .001). Significant positive correlations were found between peri-papillary retinal nerve fibre layer thickness and optic nerve (r = .642, p < .001) and tract (r = .663, p < .001) width. Occipital pole cortical thickness was 6.88% higher (Z = -4.10, p < .001) in PWA and was related to anterior visual pathway structures including foveal retinal pigment epithelium complex thickness (r = -.579, p = .005), optic disc (r = .478, p = .021) and rim areas (r = .597, p = .003). We were unable to demonstrate a significant relationship between OCT-derived foveal or optic nerve measures and MRI-derived 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. Copyright © 2018 Wiley Periodicals, Inc.en_US
rioxxterms.funder.project94a427429a5bcfef7dd04c33360d80cden_US


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