Natural History and Genetic Studies of Usher Syndrome

亚瑟综合症的自然史和遗传学研究

• 批准号: 10706123
• 负责人: Wadih Zein
• 金额: $ 28.01万
• 依托单位: NATIONAL EYE INSTITUTE
• 依托单位国家: 美国
• 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/10706123
• 关键词: 10q; 11p; 11q; 17q; Affect; Air; Auditory; Blood specimen; Bone Conduction; CDH23 gene; Categories; Chromosomes; Cities; Clinical; DNA; Disease; Electroretinography; Enrollment; Equilibrium; Evaluation; Eye Movements; Fluorescein Angiography; Fundus photography; Genes; Genetic study; Genotype; Inherited; Knowledge; Lens Opacities; Life; Link; MYO7A gene; Molecular; Molecular Genetics; Mutation; Natural History; Nature; New York; Night Blindness; Noise; Ophthalmoscopes; Optic Nerve; PCDH15 gene; Participant; Patients; Phenotype; Phenylephrine; Photography; Positioning Attribute; Procedures; Protocols documentation; Reflex action; Rehabilitation therapy; Reporting; Retinal macula; Retinitis Pigmentosa; Severities; Site; Speech Intelligibility; Syndrome; Testing; Tropicamide; Tympanometry; USH1C gene; USH2A gene; United States National Institutes of Health; Universities; Usher Syndrome; Usher Syndrome Type 1; Usher Syndrome Type 2; VLGR1 gene; Vestibular Function Tests; Vision; Visit; Visual Acuity; Visual Fields; WHRN gene; caloric stimulation; chromosome 5q loss; college; computerized; deaf; disease natural history; ear muscle; early childhood; genetic deafness; genetic testing; hearing impairment; macular edema; middle ear; oculomotor; otoacoustic emission; speech recognition; tomography; tool

The study involved a first visit with ocular exam and assessment of visual function, audiological and vestibular evaluation, and a blood sample for the purpose of molecular (DNA/genotyping) testing. The ocular examination included an assessment of: Best corrected visual acuity with manifest refraction A slit lamp examination and photography of lens opacity, if present Visual field examination (Goldmann visual field) Dilated ophthalmoscopic examination (2.5% phenylephrine and 1% tropicamide) Electroretinography (ERG) Fundus photography of retina, macula, and optic nerve Fluorescein angiography/ocular coherence tomography if macular edema is suspected. Auditory function were evaluated using the following battery of tests: Pure tone thresholds by air and bone conduction for 125-8000 Hz. Speech recognition threshold Word recognition ability Tympanometry Middle ear muscle reflex assessment Distortion product otoacoustic emissions (DPOAEs) Threshold equalizing noise test (TEN) Vestibular function were evaluated using the following procedures: A Videoonystagmography battery of tests including (a) oculomotor tests, (b) spontaneous, positional and positioning tests, and (c) caloric stimulation Rotary chair eye movements Vestibular evoked myogenic potentials (VEMP) Computerized dynamic platform posturography (CDPP) A total number of 249 participants were enrolled in this study with an accrual ceiling of 400 (200 affected participants and 200 unaffected participants). A total of 237 participants enrolled at NIH. A total of 12 participants have enrolled at the collaborative site, Queens College of the City University of New York (CUNY). Genotype-phenotype correlations have been performed for some of the genotypes. Computerized dynamic posturography, not previously performed on Usher patients, has provided new information about the vestibular function of both types of the syndrome and might be a useful tool in patient rehabilitation.

该研究涉及首次访问眼检查和视觉功能，听力学和前庭评估的评估，以及用于分子（DNA/基因分型）测试目的的血液样本。 眼检查包括： 最佳校正视力和明显的折射 缝隙检查和镜头不透明度的摄影，如果存在 视野检查（戈德曼视野） 膨胀的眼镜检查（2.5％苯肾上腺素和1％对照胺） 遗传学（ERG） 视网膜，黄斑和视神经的眼底摄影 如果怀疑黄斑水肿，荧光素血管造影/眼相干断层扫描。 使用以下测试评估听觉功能： 空气和骨传导的纯音阈值125-8000 Hz。 语音识别阈值 单词识别能力 鼓板法 中耳肌肉反射评估 失真产物耳声排放（DPOAE） 阈值均衡噪声测试（十） 使用以下步骤评估前庭功能： 视频震震摄影电池包括（a）（a）动眼测试，（b）自发，位置和定位测试，以及（c）热量刺激 扶轮椅眼动 前庭引起的肌遗传电位（VEMP） 计算机化动态平台姿势（CDPP） 这项研究总共有249名参与者，其中400名（200名参与者和200名未受影响的参与者）的应计费。 NIH共有237名参与者。共有12名参与者参加了纽约市皇后学院（CUNY）的合作场所。 已经对某些基因型进行了基因型 - 表型相关性。计算机化的动态姿势术，以前尚未对usher患者进行，它提供了有关两种类型综合征的前庭功能的新信息，并且可能是患者康复的有用工具。