Aberrant visual pathway development in albinism: From retina to cortex

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 tomogra...

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Bibliographic Details
Published in:Human brain mapping 2019-02, Vol.40 (3), p.777-788
Main Authors: Ather, Sarim, Proudlock, Frank Anthony, Welton, Thomas, Morgan, Paul S., Sheth, Viral, Gottlob, Irene, Dineen, Rob A.
Format: Article
Language:English
Subjects:
Abnormalities
Adult
Albinism
Albinism - diagnostic imaging
Albinism - pathology
Asymmetry
diffusion tensor imaging
Diffusion Tensor Imaging - methods
Epithelium
Evoked Potentials, Visual - physiology
Female
Genetic abnormalities
Hemispheric laterality
Humans
Magnetic Resonance Imaging
Male
Medical imaging
Middle Aged
Neuroimaging
NMR
Nuclear magnetic resonance
Optic chiasm
Optic nerve
Optical Coherence Tomography
Photopigments
Pigmentation
Retina
Retina - diagnostic imaging
Retina - pathology
Retinal pigment epithelium
Structure-function relationships
Tensors
Thickness
Tomography, Optical Coherence - methods
Visual cortex
Visual Cortex - diagnostic imaging
Visual Cortex - pathology
Visual evoked potentials
visual pathway
Visual Pathways - diagnostic imaging
Visual Pathways - pathology
Visual perception
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Summary: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 
ISSN:1065-9471
1097-0193
DOI:10.1002/hbm.24411