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Neuro-ophthalmic Mechanisms Of Disease

疾病的神经眼科机制

基本信息

批准号：
8938309
负责人：
Edmond J FitzGibbon
金额：
$ 21.82万
依托单位：
NATIONAL EYE INSTITUTE
依托单位国家：
美国
项目类别：
财政年份：
资助国家：
美国
起止时间：
至
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/8938309
关键词：
Acoustic Neuroma Affect Anesthesia procedures Anterior Blindness Brain Diseases Brain Part Cataract Characteristics Child Clinic Collaborations Collection Complication Cornea Dental Development Diagnosis Diplopia Disease Disease Progression Dysplasia Endocrine Enrollment Erdheim-Chester Disease Etiology Exophthalmos Eye Eye Movements Facial paralysis Generations Genotype Glioma Goals Hamartoma Hearing Impaired Persons Hereditary Disease Histiocytosis Human Image Incidence Individual Institutes Kidney Laboratories Lead Life Lisch nodules Lung McCune-Albright Syndrome Motion Natural History Neuraxis Neurodegenerative Disorders Neurofibromatoses Neurofibromatosis 1 Neurofibromatosis 2 Neurologic Ocular Motility Disorders Ocular orbit Operative Surgical Procedures Optic Nerve Paper Patients Phenotype Plexiform Neurofibroma Polyostotic fibrous dysplasia Process Protocols documentation Publishing Recommendation Recruitment Activity Reporting Retinal Retroperitoneal Space Risk Somatotrophin increased Somatotropin Sphenoid bone structure Spottings Staging Stimulus Surgical Decompression System Techniques Testing Tissues Universities Vision Visual Motion Visual system structure Wing X-Ray Computed Tomography bone cell motility cohort disease natural history experience eye dryness histiocyte insight long bone oculomotor optic nerve disorder research study response skull base tumor

项目摘要

In this report I will concentrate on studies of various diseases which have characteristic oculomotor abnormalities, and also on diseases that affect vision or have neuro-ophthalmic consequences such as fibrous dysplasia and neurofibromatosis. Oculomotor control is distributed throughout the brain, and diseases differentially affecting parts of the brain can affect eye movements in different, and often specific ways. We have recorded eye movements in patients with neurodegenerative and genetic diseases to characterize their ocular motility disorder, to help make a specific diagnosis, to correlate phenotype to genotype, to stage disease progression, and to give insight into the processes underlying eye movement generation. We are currently analyzing the longitudinally recorded eye movmement of a cohort with Niemann Pick C disease. Fibrous dysplasia (FD) is a disease where normal bone is replaced with fibro-osseous tissue. Patients with McCune Albright syndrome have polyostotic fibrous dysplasia, endocrine abnormalities, and caf au lait spots. In McCune Albright syndrome, the anterior cranial base is frequently involved, including the sphenoid bones. The optic nerve passes through the sphenoid wing and is often found to be encased by FD on CT imaging. The management of fibrous dysplasia encased optic nerves is controversial, as optic neuropathy resulting in vision loss is the most frequently reported neurological complication. In collaboration with Dr. Michael Collins of the Dental Institute, a cohort of more than 90 patients with fibrous dysplasia continue to be followed longitudinally with neuro-ophthalmologic exams to track the natural history of this disease. Our experience in this cohort is that optic neuropathy is unusual and the recommendation is that surgical decompression not be done. Patients with high growth hormone are at risk for optic neuropathy but not if the growth hormone excess can be controlled. We continue to longitudinally follow these patients and recruit new patients with McCune Albright syndrome. Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder. Plexiform neurofibromas develop in about 25% of patients and these are among the most debilitating complication of NF1. There is also a higher incidence of central nervous system gliomas and other neuro-ophthalmic manifestations. In collaboration with Brigitte Wideman of NCI, NF1 patients enrolled in a natural disease study continue to be examined in the eye clinic. Several parameters are followed including Lisch nodules, vision, ocular motility and lid function. Complete neuro-ophthalmic exams and imaging are performed. In collaboration with colleagues at Georgetown University a paper was published on the natural history of orbital plexiform neurofibromas in children. Another ongoing natural history protocol follows patients with neurofibromatosis type 2 (NF2). These patients have acoustic neuromas and compression from these (or from surgical correction of vestibular schwannomas) can lead to facial palsy with poor lid closure, corneal anesthesia, and dry eyes. These complications put their eyes at risk for vision loss which can be devastating in these often deaf individuals. NF2 patients may also present with cataracts and retinal hamartomas. These patients are followed longitudinally for new tumor development. Erdheim Chester disease is a rare histiocytosis typically developing in patient in their 5th decade of life. Collections of histiocytes may be found in the long bones, retroperitoneal space, in the kidneys, lungs and the orbits among other spaces. Presentation in the orbit can lead to proptosis, diplopia, and optic neuropathy. We are longitudinally following a cohort of Erdheim Chester patients with Dr. Juvianee Estrada Veras for neuro-ophthalmic findingss. Orbital involvement is uncommon with less than 20% of our cohort demonstrating orbital masses. In collaboration with Boris Sheliga and Christian Quaia of the NEI, we continue to probe the visual motion system using ocular following response techniques pioneered by Fred Miles of the NEI. These approaches use the machine like eye movements made in response to differing stimuli to help understand the mechanisms underlying motion vision. In the past year experiments demonstrated how ocular following responses are constrained by early stages of the human visual system.

在这份报告中，我将集中研究具有特征性眼部异常的各种疾病，以及影响视力或具有神经眼科后果的疾病，如纤维性发育不良和神经纤维瘤病。眼动控制分布在整个大脑中，不同影响大脑部分的疾病可以以不同且通常特定的方式影响眼球运动。我们记录了患有神经退行性疾病和遗传性疾病的患者的眼球运动，以表征他们的眼球运动障碍，以帮助做出具体的诊断，将表型与基因型相关联，分期疾病进展，并深入了解眼球运动产生的过程。我们目前正在分析一个尼曼匹克C病队列的纵向记录眼球运动。纤维性发育不良（FD）是一种疾病，其中正常骨被纤维骨组织取代。McCune Albright综合征患者有多骨纤维异常增生、内分泌异常和咖啡Au lait斑。在McCune Albright综合征中，前颅底经常受累，包括蝶骨。视神经穿过蝶骨翼，在CT成像上经常被FD包裹。视神经纤维异常增殖症的治疗是有争议的，因为导致视力丧失的视神经病变是最常见的神经系统并发症。与牙科研究所的Michael柯林斯博士合作，对90多名纤维性结构不良患者进行了神经眼科检查，以追踪这种疾病的自然史。我们的经验是，视神经病变是不常见的，建议不进行手术减压。高生长激素的患者有患视神经病变的风险，但如果生长激素过量可以控制的话就不会。我们继续纵向跟踪这些患者，并招募新的McCune Albright综合征患者。 1型神经纤维瘤病（NF1）是一种常见的常染色体显性遗传病。丛状神经纤维瘤发生在约25%的患者中，这些是NF1最令人衰弱的并发症。中枢神经系统胶质瘤和其他神经眼科表现的发病率也较高。与NCI的Brigitte Wideman合作，参加自然疾病研究的NF1患者继续在眼科诊所接受检查。几个参数，包括Lisch结节，视力，眼球运动和眼睑功能。进行完整的神经眼科检查和成像。与乔治敦大学的同事合作，发表了一篇关于儿童眼眶丛状神经纤维瘤自然史的论文。另一个正在进行的自然病史方案遵循2型神经纤维瘤病（NF 2）患者。这些患者患有听神经瘤，这些肿瘤（或前庭神经鞘瘤的手术矫正）的压迫可导致面瘫伴眼睑闭合不良、角膜麻醉和干眼。这些并发症使他们的眼睛面临视力丧失的风险，这对这些经常失聪的人来说可能是毁灭性的。NF2患者也可能出现白内障和视网膜错构瘤。对这些患者进行纵向随访，以了解新肿瘤的发展。埃尔德海姆切斯特病是一种罕见的组织细胞增生症，通常发生在50岁左右的患者。在长骨、腹膜后间隙、肾、肺和眼眶等间隙中可以发现组织细胞的集合。出现在眼眶内可导致眼球突出、复视和视神经病变。我们与Juvianee Estrada Veras医生一起纵向随访Erdheim Chester患者队列的神经眼科发现。眼眶受累是罕见的，我们的队列中不到20%的人表现出眼眶肿块。在与NEI的Boris Sheliga和Christian Kristia的合作中，我们继续使用NEI的Fred Miles开创的视觉跟随响应技术来探索视觉运动系统。这些方法使用类似机器的眼球运动来响应不同的刺激，以帮助理解运动视觉的机制。在过去的一年里，实验证明了眼睛跟随反应是如何受到人类视觉系统早期阶段的限制的。