Retinal Versus Cortical Contributions to Vision Loss in Albinism

视网膜与皮质对白化病视力丧失的影响

基本信息

批准号：
9388351
负责人：
Joseph Carroll
金额：
$ 48.6万
依托单位：
MEDICAL COLLEGE OF WISCONSIN
依托单位国家：
美国
项目类别：
财政年份：
2014
资助国家：
美国
起止时间：
2014-12-02 至 2019-11-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9388351
关键词：
Address Affect Age related macular degeneration Aging Albinism Anatomy Animal Model Area Behavior Behavioral Blindness Classification Clinical Color Visions Computer Simulation Cone Data Depth Perception Development Disease Event Eye Functional Magnetic Resonance Imaging Genotype Goals Grant Hair Health Hereditary Disease Human Image Imaging technology Impairment Individual Iris Knowledge Lateral Geniculate Body Length Light Link Melanins Modeling Modification Molecular Morphology National Eye Institute Nature Neurobiology Neurons Nuclear Ocular Albinism Oculocutaneous Albinism Ophthalmoscopy Optic Chiasm Optical Coherence Tomography Outcome Outcome Measure Pathologic Nystagmus Pathway interactions Patients Pattern Peripheral Phenotype Photosensitivity Pigments Population Psychophysics Publications Refractive Errors Reporting Research Personnel Resolution Retina Retinal Retinal Diseases Role Scanning Severities Signal Transduction Skin Structure Technology Testing Textbooks Thalamic structure Therapeutic Therapeutic Trials Thick Transillumination Uncertainty Variant Vision Vision research Visual Visual Acuity Visual Cortex Visual system structure Work adaptive optics area striata base clinical phenotype density experimental study fovea centralis imaging approach improved innovation insight interest macula multidisciplinary negative affect non-invasive imaging novel novel therapeutic intervention programs public health relevance retinal imaging retinotopic therapy outcome tool visual map visual processing

项目摘要

DESCRIPTION (provided by applicant): Even though the fovea occupies only 0.02% of the total area of the retina, 40% of primary visual cortex is devoted to processing visual signals that arise there. Thus, it is not surprising that diseases affecting the structure or function of the foea are especially devastating to visually guided behaviors. Yet fundamental gaps remain in our concepts of how the fovea develops, how foveal structure is disrupted during aging and disease, and how the fovea interacts with more central visual system structures to determine key features of visual function. The overall goal of this proposal is to address these issues using a novel combination of noninvasive imaging technologies including functional magnetic resonance imaging (fMRI), optical coherence tomography (OCT) and adaptive optics scanning light ophthalmoscopy (AOSLO). Albinism is an inherited disorder characterized by absent or reduced melanin pigment in the eye, and often in the skin and hair, with all types manifesting the visual features of foveal hypoplasia, macular translucency, photosensitivity, refractive errors, nystagmus, impaired stereopsis, altered retinostriate decussation, and reduced visual acuity. These specific retinal and cortical features of albinism make it a perfect "experiment of nature" to examine the knowledge gaps listed above. We propose to do this through the following specific aims: 1) Define the spectrum of foveal morphology in albinism and assess the relationship between pit morphology and retinal melanin, 2) Identify retinal factors contributing t visual deficits in albinism, and 3) Determine the cortical correlates of visual deficits in albinis. The results of this project will provide a more comprehensive understanding of the interrelationships linking melanin, retinal morphology, and cortical organization. This will offer insight into the basis for vision deficits in albinism, which may alter current phenotype/genotype classifications. This work is expected to have a significant positive impact by providing a new framework for understanding and targeting clinical therapies to alleviate the behavioral manifestations of albinism, and by producing sensitive tools for assessing therapeutic outcomes. This proposal directly addresses emerging needs outlined in the National Eye Institute's August 2012 Publication, "Vision Research: Needs, Gaps, & Opportunities", and incorporates specific program objectives of the NEI Retinal Diseases Panel: (1) Characterize the macula and perifoveal regions of the retina to better understand the predilection of the macula for disease. (2) Improve understanding of the roles of neuronal activity and molecular events in the formation of central visual circuits during development. (3) Continue to develop and apply noninvasive technologies such as fMRI, OCT, adaptive optics, and confocal imaging to better understand retinal function and changes in disease states.

描述（由申请人提供）：尽管中央凹仅占视网膜总面积的 0.02%，但初级视觉皮层的 40% 专门用于处理视觉信号，在那里出现。因此，影响眼球结构或功能的疾病对视觉引导行为尤其具有破坏性也就不足为奇了。然而，我们对中央凹如何发育、衰老和疾病期间中央凹结构如何被破坏以及中央凹如何与更中央的视觉系统结构相互作用以确定视觉功能的关键特征的概念仍然存在根本差距。该提案的总体目标是利用功能性磁共振成像（fMRI）、光学相干断层扫描（OCT）和自适应光学扫描光检眼镜（AOSLO）等非侵入性成像技术的新颖组合来解决这些问题。白化病是一种遗传性疾病，其特征是眼睛、皮肤和头发中黑色素缺失或减少，所有类型均表现为中心凹发育不全、黄斑半透明、光敏性、屈光不正、眼球震颤、立体视觉受损、视网膜纹状体改变等视觉特征交错，视力下降。白化病的这些特定的视网膜和皮质特征使其成为检查上述知识差距的完美“自然实验”。我们建议通过以下具体目标来实现这一目标：1) 定义白化病的黄斑中心凹形态谱，并评估凹坑形态和视网膜黑色素之间的关系，2) 确定导致白化病视觉缺陷的视网膜因素，以及 3) 确定白化病的皮质白化病患者视觉缺陷的相关性。该项目的结果将提供对黑色素、视网膜形态和皮质组织之间相互关系的更全面的了解。这将深入了解白化病视力缺陷的基础，这可能会改变当前的表型/基因型分类。这项工作预计将产生显着的积极影响，为理解和靶向临床治疗以减轻白化病的行为表现提供新的框架，并产生评估治疗结果的敏感工具。该提案直接解决了国家眼科研究所 2012 年 8 月出版物“视觉研究：需求、差距和机遇”中概述的新需求，并纳入了 NEI 视网膜疾病小组的具体计划目标：(1) 描述视网膜黄斑和黄斑中心凹区域的特征视网膜，以更好地了解黄斑疾病的倾向。 (2) 提高对神经元活动和分子事件在发育过程中中央视觉回路形成中的作用的理解。（3）继续开发和应用fMRI、OCT、自适应光学、共焦成像等无创技术，更好地了解视网膜功能和疾病状态的变化。

项目成果

期刊论文数量（3）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Imaging retinal melanin: a review of current technologies.

视网膜黑色素成像：当前技术回顾。

DOI：
发表时间：
2018
期刊：
影响因子：
0
作者：
Lapierre;Carroll, Joseph;Skala, Melissa C
通讯作者：
Skala, Melissa C

Imaging of Macrophage-Like Cells in Living Human Retina Using Clinical OCT.

使用临床 OCT 对活人视网膜中的巨噬细胞样细胞进行成像。

DOI：
发表时间：
2020
期刊：
影响因子：
4.4
作者：
Castanos, Maria V;Zhou, Davis B;Linderman, Rachel E;Allison, Reilly;Milman, Tatyana;Carroll, Joseph;Migacz, Justin;Rosen, Richard B;Chui, Toco Y P
通讯作者：
Chui, Toco Y P

Foveal avascular zone morphology and parafoveal capillary perfusion in sickle cell retinopathy.

镰状细胞性视网膜病的中心凹无血管区形态和中心凹旁毛细血管灌注。

DOI：
发表时间：
2020
期刊：
影响因子：
0
作者：
Lynch, Giselle;Scott, Adrienne W;Linz, Marguerite O;Han, Ian;Andrade Romo, Jorge S;Linderman, Rachel E;Carroll, Joseph;Rosen, Richard B;Chui, Toco Y
通讯作者：
Chui, Toco Y