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Aberrant visual pathway development in albinism: From retina to cortex.


ABSTRACT: 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 (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?

SUBMITTER: Ather S 

PROVIDER: S-EPMC6865554 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature

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Aberrant visual pathway development in albinism: From retina to cortex.

Ather Sarim S   Proudlock Frank Anthony FA   Welton Thomas T   Morgan Paul S PS   Sheth Viral V   Gottlob Irene I   Dineen Rob A RA  

Human brain mapping 20181204 3


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 str  ...[more]

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