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Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders
Miguel Castelo-Branco, … , Luis Pérez-Jurado, Eduardo Silva
Miguel Castelo-Branco, … , Luis Pérez-Jurado, Eduardo Silva
Published November 21, 2007
Citation Information: J Clin Invest. 2007;117(12):3720-3729. https://doi.org/10.1172/JCI32556.
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Research Article Ophthalmology

Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders

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Abstract

Williams-Beuren syndrome (WBS), a neurodevelopmental genetic disorder whose manifestations include visuospatial impairment, provides a unique model to link genetically determined loss of neural cell populations at different levels of the nervous system with neural circuits and visual behavior. Given that several of the genes deleted in WBS are also involved in eye development and the differentiation of retinal layers, we examined the retinal phenotype in WBS patients and its functional relation to global motion perception. We discovered a low-level visual phenotype characterized by decreased retinal thickness, abnormal optic disk concavity, and impaired visual responses in WBS patients compared with age-matched controls by using electrophysiology, confocal and coherence in vivo imaging with cellular resolution, and psychophysics. These mechanisms of impairment are related to the magnocellular pathway, which is involved in the detection of temporal changes in the visual scene. Low-level magnocellular performance did not predict high-level deficits in the integration of motion and 3D information at higher levels, thereby demonstrating independent mechanisms of dysfunction in WBS that will require remediation strategies different from those used in other visuospatial disorders. These findings challenge neurodevelopmental theories that explain cortical deficits based on low-level magnocellular impairment, such as regarding dyslexia.

Authors

Miguel Castelo-Branco, Mafalda Mendes, Ana Raquel Sebastião, Aldina Reis, Mário Soares, Jorge Saraiva, Rui Bernardes, Raquel Flores, Luis Pérez-Jurado, Eduardo Silva

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Figure 1

Central retinal phenotype in a representative WBS subject.

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Central retinal phenotype in a representative WBS subject.
(A) Optical b...
(A) Optical biopsy using OCT of the central macular region of the retina reveals a normal layering of retinal structures in a WBS (WBS1) participant (color-coded log reflectivity map: red, high; black, low). An intact foveomacular depression is visible. However, quantitative morphometry revealed a decrease in RT. The bottom hyperreflective layer corresponds to the pigment epithelium and the top one to the ganglion cell RNFL. The hyporeflective region represents the photoreceptor layer. Top right inset represents a fundus photograph of the subject’s retina. Arrow in left inset shows axis of depicted OCT image. (B) Color-coded thickness map of the central 20 degrees of the same retina depicted in A (for details, see Methods). A generalized loss is visible (for statistical details, see text). Numbers indicate regional RT.

Copyright © 2023 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

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