Natural History and Genetic Studies of Usher Syndrome

这项研究包括第一次眼睛检查和视觉功能评估，听力和前庭评估，以及用于分子(DNA/基因分型)测试的血液样本。 眼科检查包括对以下方面的评估： 最佳矫正视力与明显屈光 裂隙灯检查和拍摄晶状体混浊(如果有) 视野检查(戈德曼视野) 扩大眼底检查(2.5%苯肾上腺素和1%托吡卡胺) 视网膜电图(ERG) 视网膜、黄斑和视神经的眼底照相 如怀疑黄斑水肿，则行荧光素血管造影/眼部相干断层扫描。 使用以下一组测试来评估听觉功能： 空气和骨导纯音阈值为125-8000赫兹。 语音识别阈值 单词识别能力 鼓室导抗测定法 中耳肌肉反射评估 失真产物耳声发射(DPOAE) 阈值均衡噪声测试(十) 前庭功能的评估使用以下程序： 一组视频眼震图测试，包括(A)眼球运动测试，(B)自发、姿势和定位测试，以及(C)热量刺激 转椅眼球运动 前庭诱发肌源性电位(VEMP) 计算机化动态平台姿势图(CDPP) 共有249名参与者参加这项研究，应计上限为400人(200名受影响的参与者和200名未受影响的参与者)。共有237名参与者在国立卫生研究院注册。共有12名参与者在合作网站纽约城市大学皇后学院(CUNY)注册。目前共有153名受影响的参与者和96名未受影响的参与者登记。 对一些基因类型进行了基因-表型相关分析。与其他Usher I型患者相比，携带PCDH15 R245X突变纯合子的Usher I型患者在生命早期就受到严重影响。在Usher 2A型患者中，视力下降，视野收缩呈年龄依赖性。计算机化动态姿势图以前没有在Usher患者身上进行过，它提供了关于这两种综合征的前庭功能的新信息，可能是这些患者康复的有用工具。

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 have been enrolled in this study with an accrual ceiling of 400 (200 affected participants and 200 unaffected participants). A total of 237 participants have enrolled at NIH. A total of 12 participants have enrolled at the collaborative site, Queens College of the City University of New York (CUNY). There are currently a total of 153 affected and 96 unaffected participants enrolled. Genotype-phenotype correlations have been performed for some of the genotypes. Usher type I patients homozygous for the R245X mutation of PCDH15 appear to be severely affected from early in life when compared with the rest of Usher type I patients. In Usher type 2A patients, visual acuity decreased and visual field constriction was found to be age-dependent. 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 the rehabilitation of these patients.