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: 10930523
• 负责人: Wadih Zein
• 金额: $ 19.25万
• 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/10930523
• 关键词: 10q; 11p; 11q; 17q; Affect; Air; Audiology; Auditory; Blood specimen; Bone Conduction; CDH23 gene; Categories; Chromosomes; Cities; Classification; 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; Optic Nerve; PCDH15 gene; Participant; Patients; Phenotype; Phenylephrine; Photography; Positioning Attribute; Procedures; Protocols documentation; Reflex action; Rehabilitation therapy; Reporting; Retina; 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; autosome; caloric stimulation; chromosome 5q loss; college; computerized; deaf; disease natural history; ear muscle; early childhood; genetic deafness; genetic testing; hearing impairment; macula; macular edema; middle ear; oculomotor; otoacoustic emission; participant enrollment; 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.

该研究包括首次眼部检查和视觉功能评估，听力学和前庭评估，以及用于分子（DNA/基因分型）测试的血液样本。

项目成果

Atypical and ultra-rare Usher syndrome: a review.

• DOI: 10.1080/13816810.2020.1747090
• 发表时间: 2020-10
• 期刊: Ophthalmic genetics
• 影响因子: 1.2
• 作者: Nolen RM;Hufnagel RB;Friedman TB;Turriff AE;Brewer CC;Zalewski CK;King KA;Wafa TT;Griffith AJ;Brooks BP;Zein WM
• 通讯作者: Zein WM