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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 7

Retinal measurements can predict low-level motion performance deficits but not high-level motion integration and dorsal stream function measurements.

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Retinal measurements can predict low-level motion performance deficits b...
Correlations with high-level ventral stream (face discrimination) performance are, as expected, also absent. Connecting lines depict significant correlations. Rho values next to lines depict correlation strength (they are in general negative because lower RTs correspond to less neurons in the outer retina, and lower performance implies higher thresholds). JLO, Benton’s Judgment of Line Orientation.
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ISSN: 0021-9738 (print), 1558-8238 (online)

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