Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders.
Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders.
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威廉姆斯-博伊伦综合征的视觉表型挑战了解释人类神经发育视觉皮层疾病的大细胞理论。
DOI：
10.1172/jci32556
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发表时间：
2007
期刊：
影响因子：
--
通讯作者：
Eduardo Silva
中科院分区：
文献类型：
--
作者：
M. Castelo‐Branco;M. Mendes;A. Sebastião;A. Reis;Mário Soares;J. Saraiva;Rui Bernardes;R. Flores;L. Pérez;Eduardo Silva
Williams-Beuren综合征（WBS）是一种神经发育性遗传疾病，其表现包括视觉空间障碍，它提供了一种独特的模型，将神经系统不同水平的神经细胞群的遗传决定损失与神经回路和视觉行为联系起来。考虑到WBS中缺失的几个基因也参与了眼睛发育和视网膜层的分化，我们研究了WBS患者的视网膜表型及其与全局运动感知的功能关系。与年龄匹配的对照组相比，我们发现WBS患者具有低水平的视觉表型，其特征是视网膜厚度减少，视盘异常凹陷，视觉反应受损，这是通过电生理学、细胞分辨率共聚焦和相干体内成像以及心理物理学来实现的。这些损伤机制与大细胞通路有关，大细胞通路参与检测视觉场景的时间变化。低水平的巨细胞表现并不能预测高水平运动和3D信息整合的高水平缺陷，因此表明WBS功能障碍的独立机制需要不同于其他视觉空间障碍的修复策略。这些发现挑战了神经发育理论，这些理论解释了基于低水平大细胞损伤的皮层缺陷，例如阅读障碍。
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.
影响因子：
4.4
作者：
Varma, R;Bazzaz, S;Lai, M
通讯作者：
Lai, M
影响因子：
46.9
作者：
Fujimoto, JG
通讯作者：
Fujimoto, JG
影响因子：
--
作者：
HEE, MR;IZATT, JA;FUJIMOTO, JG
通讯作者：
FUJIMOTO, JG