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常染色体显性遗传性阿尔茨海默病中视网膜和视束的视网膜拓扑变性

Retinotopic degeneration of the retina and optic tracts in autosomal dominant Alzheimer's disease.

作者信息

Adhikari Suman, Qiao Yuchuan, Singer Maxwell, Sagare Abhay, Jiang Xuejuan, Shi Yonggang, Ringman John M, Kashani Amir H

机构信息

Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland, USA.

Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.

出版信息

Alzheimers Dement. 2023 Nov;19(11):5103-5113. doi: 10.1002/alz.13100. Epub 2023 Apr 27.

Abstract

INTRODUCTION

We investigated the correlation between retinal thickness and optic tract integrity in subjects with autosomal dominant Alzheimer's disease (ADAD) causing mutations.

METHODS

Retinal thicknesses and diffusion tensor images (DTI) were obtained using optical coherence tomography and magnetic resonance imaging, respectively. The association between retinal thickness and DTI measures was adjusted for age, sex, retinotopy, and correlation between eyes.

RESULTS

Optic tract mean diffusivity and axial diffusivity were negatively correlated with retinotopically defined ganglion cell inner plexiform thickness (GCIPL). Fractional anisotropy was negatively correlated with retinotopically defined retinal nerve fiber layer thickness. There was no correlation between outer nuclear layer (ONL) thickness and any DTI measure.

DISCUSSION

In ADAD, GCIPL thickness is significantly associated with retinotopic optic tract DTI measures even in minimally symptomatic subjects. Similar associations were not present with ONL thickness or when ignoring retinotopy. We provide in vivo evidence for optic tract changes resulting from ganglion cell pathology in ADAD.

摘要

引言

我们研究了常染色体显性遗传性阿尔茨海默病(ADAD)致病突变患者视网膜厚度与视束完整性之间的相关性。

方法

分别使用光学相干断层扫描和磁共振成像获取视网膜厚度和扩散张量图像(DTI)。针对年龄、性别、视网膜定位以及双眼之间的相关性,对视网膜厚度与DTI测量值之间的关联进行了校正。

结果

视束平均扩散率和轴向扩散率与视网膜定位定义的神经节细胞内丛状层厚度(GCIPL)呈负相关。各向异性分数与视网膜定位定义的视网膜神经纤维层厚度呈负相关。外核层(ONL)厚度与任何DTI测量值之间均无相关性。

讨论

在ADAD中,即使在症状轻微的患者中,GCIPL厚度也与视网膜定位视束DTI测量值显著相关。ONL厚度或忽略视网膜定位时不存在类似关联。我们提供了ADAD中神经节细胞病变导致视束变化的体内证据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/960e/10603214/85a85cd2d7a0/nihms-1898705-f0001.jpg

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