Optometry & Contact Lenses最新文献

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Einsatz von Shutter-Brillen im Tennis – Einfluss von (Bild-)Frequenz und Dunkelphasenanteil auf die Zielschlagpräzision 在网球比赛中使用快门眼镜--(图像)频率和暗相比例对目标准确性的影响
Optometry & Contact Lenses Pub Date : 2023-11-29 DOI: 10.54352/dozv.rofv4461
G. Jendrusch, Nina Binz, P. Platen
{"title":"Einsatz von Shutter-Brillen im Tennis – Einfluss von (Bild-)Frequenz und Dunkelphasenanteil auf die Zielschlagpräzision","authors":"G. Jendrusch, Nina Binz, P. Platen","doi":"10.54352/dozv.rofv4461","DOIUrl":"https://doi.org/10.54352/dozv.rofv4461","url":null,"abstract":"Purpose. The use of shutter glasses for perception training in sports requires knowledge of adequate load dosage. The study analyses the influence of (image-)frequency or “duty ratio” (dark phase percentage) on target stroke accuracy in tennis. Material and Methods. With a total number of 22 tennis players (18m, 4f, mean age = 23.6, SD = ± 2.7 years) the target hit precision was conducted. The tennis players had to return the balls played to them by a ball machine using the forehand volley and to make direct hits to a bull’s eye (high scores = high target hit precision). The results with different (randomised) conditions (strobe rates level II = 5.3 Hz, level V = 2.3 Hz, lev- el VIII = 1.0 Hz; dark phase level II = 88 ms, level V = 341 ms, level VIII = 909 ms) of currently used shutter glasses (Nike Vapor Strobe) and without occlusion have been compared. Keywords intermittent vision, stroboscopic visual training, shutter lens glasses, sports vision training, tennis","PeriodicalId":347784,"journal":{"name":"Optometry & Contact Lenses","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139209451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Methoden des visuomotorischen Trainings für Sportler/Leistungssportler 运动员/竞技运动员视觉运动训练方法
Optometry & Contact Lenses Pub Date : 2023-11-29 DOI: 10.54352/dozv.ddpy7368
J. Müller, O. Kolbe, K. Kunert, W. Sickenberger
{"title":"Methoden des visuomotorischen Trainings für Sportler/Leistungssportler","authors":"J. Müller, O. Kolbe, K. Kunert, W. Sickenberger","doi":"10.54352/dozv.ddpy7368","DOIUrl":"https://doi.org/10.54352/dozv.ddpy7368","url":null,"abstract":"Purpose. Training methods to improve the performance of the visual system are repeatedly described in the popular media. This review article focuses on the scientific aspect of this subject, presenting and discussing studies and techniques for enhancing visual and visuomotor performance in high-performance athletes. Material and Methods. To conduct the literature review on visual performance enhancement, relevant scientific databas- es, specialized articles, and academic books from fields such as sports science, optometry, medicine, and partially technical disciplines were comprehensively searched. Keywords eye-hand coordination, visual performance enhancement, stroboscopic visual training, anticipation","PeriodicalId":347784,"journal":{"name":"Optometry & Contact Lenses","volume":"20 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139214111","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Kontaktlinsenprüfung: Verifikation und Inspektion formstabiler Kontaktlinsen durch den Spezialisten 隐形眼镜检测:由专家对尺寸稳定的隐形眼镜进行验证和检查
Optometry & Contact Lenses Pub Date : 2023-11-29 DOI: 10.54352/dozv.ifyc5218
Frank Spors, Donald Egan, Dorcas Tsang, An Vo, Joseph Gray, Sylvia Wulf
{"title":"Kontaktlinsenprüfung: Verifikation und Inspektion formstabiler Kontaktlinsen durch den Spezialisten","authors":"Frank Spors, Donald Egan, Dorcas Tsang, An Vo, Joseph Gray, Sylvia Wulf","doi":"10.54352/dozv.ifyc5218","DOIUrl":"https://doi.org/10.54352/dozv.ifyc5218","url":null,"abstract":"Purpose. The primary focus of this article is to explore the critical aspects of verifying and inspecting RGP contact lens parameters in clinical practice. The verification process is essential to ensure that patients receive lenses with accurate and optimal parameters, thus improving their visual experi- ence and comfort. The article delves into the methods and instruments available to eye care practitioners for verifying key parameters, including back surface radii, total lens diam- eter, lens power, lens thickness, blends, and surface quality. Material and Methods. The discussion centers on the tech- niques and tools employed in the verification and inspection of RGP contact lens parameters. It emphasizes the signifi- cance of maintaining a clean and controlled environment for these assessments. Calibration and error minimization strate- gies are highlighted to enhance measurement accuracy. The article provides insights into device-specific measurements and the importance of averaging measurements to mitigate deviations. Results. The article outlines various procedures for verifying the essential parameters of RGP contact lenses. It covers methods for checking back surface radii, including the use of radiuscopes, keratometers, and corneal topographers. Verifi- cation of lens diameter is detailed with V-shaped measuring gauges, measuring magnifiers, and projection magnifiers. Lens power verification is explored through lensmeters and specialized lensmeter calibration techniques. Finally, the measurement of lens thickness, the inspection of lens edges, and the evaluation of surface quality and blends between different lens zones are addressed. Conclusion. This article underscores the significance of thorough verification and inspection of RGP contact lens parameters in clinical practice. These essential steps ensure that patients receive lenses that meet their specific needs, contributing to improved visual acuity, comfort, and overall ocular health. Eye care practitioners should check their pa- tients’ RGP contact lenses according to the ordered param- eters. By following the described methods and employing appropriate instruments, the fitting and prescribing of rigid gas-permeable contact lenses can be enhanced. Keywords Rigid gas-permeable contact lenses, RGP contact lenses, specifications and tolerances for rigid contact lens parameters, verification and inspection of RGP contact lenses, lens checking","PeriodicalId":347784,"journal":{"name":"Optometry & Contact Lenses","volume":"191 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139210515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Büroangestellte mit Symptomen des Trockenen Auges: Zufriedenheit mit dem Arbeitsumfeld und Auswirkungen der Symptome auf den Lebensstil 有干眼症状的办公室工作人员:对工作环境的满意度以及干眼症状对生活方式的影响
Optometry & Contact Lenses Pub Date : 2023-11-29 DOI: 10.54352/dozv.yiyb4876
Mirjam M. A. van Tilborg, Paul J. Murphy, Katharine S. Evans, Helianthe S. M. Kort
{"title":"Büroangestellte mit Symptomen des Trockenen Auges: Zufriedenheit mit dem Arbeitsumfeld und Auswirkungen der Symptome auf den Lebensstil","authors":"Mirjam M. A. van Tilborg, Paul J. Murphy, Katharine S. Evans, Helianthe S. M. Kort","doi":"10.54352/dozv.yiyb4876","DOIUrl":"https://doi.org/10.54352/dozv.yiyb4876","url":null,"abstract":"Purpose. To investigate the impact of dry eye disease (DED) symptoms and the perception of indoor environmental quality (IEQ) on the wellbeing and social impact after work in openplan office worker cohort. Material and Methods. 64 office workers (m = 19; f = 45; mean age = 47.7 ± 9.3 (sd)), were recruited from a single workplace (local government, open-plan, 400 employees) and asked to complete a DED symptoms questionnaire (OSDI), and answer questions on general ocular health, perception of the IEQ, and social impact from DED symptoms. All participants had worked in the building for at least 4 months. Keywords Dry eye disease, indoor environment perception, social impact, office workers, occupational dry eye","PeriodicalId":347784,"journal":{"name":"Optometry & Contact Lenses","volume":"5 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139209854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Vor- und Nachteile von Power Mapping bei weichen Kontaktlinsen 软性隐形眼镜功率映射的优缺点
Optometry & Contact Lenses Pub Date : 2023-11-29 DOI: 10.54352/dozv.ypnz6080
Klaus Ehrmann
{"title":"Vor- und Nachteile von Power Mapping bei weichen Kontaktlinsen","authors":"Klaus Ehrmann","doi":"10.54352/dozv.ypnz6080","DOIUrl":"https://doi.org/10.54352/dozv.ypnz6080","url":null,"abstract":"Purpose. To provide an overview of currently available meth- ods and instruments for the measurement of soft contact lens power maps, together with their advantages and potential shortcomings. Material and Methods. The three leading measurement prin- ciples of Moiré Fringe, Shack-Hartmann and Phase Shifting Schlieren were identified, and the relevant literature reviewed and technical specifications summarised. To demonstrate some of the potential deficiencies associated with optical power mapping, a series of measurements were conducted on toric, multifocal and extended depth of focus lenses, using one representative instrument. Raw measured data were analysed using various analysis tools and parameters. Results. Power maps and power profiles are presented for the various lens types. Different smoothing filter settings resulted in significantly different power profiles near the optical centre. The ‘Power versus Azimuth’ profiles showed unexpected results. Conclusion. While all three methods are generally reliable and easy to use, there are still some limitations which need to be considered when interpreting the results. In particular, the profile filter settings need to be chosen carefully for multifocal and extended depth of focus lenses. The need for accurate refractive index data for lens material and solution was demonstrated. Keywords Soft contact lenses, power maps, power profiles, Moiré Fringe, Shack-Hartmann, Phase Shifting Schlieren","PeriodicalId":347784,"journal":{"name":"Optometry & Contact Lenses","volume":"14 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139210378","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Visuelle Kompetenzen beim Sport – eine Übersicht 体育运动中的视觉技能--概述
Optometry & Contact Lenses Pub Date : 2023-11-29 DOI: 10.54352/dozv.hrwa5623
A. Hartwig
{"title":"Visuelle Kompetenzen beim Sport – eine Übersicht","authors":"A. Hartwig","doi":"10.54352/dozv.hrwa5623","DOIUrl":"https://doi.org/10.54352/dozv.hrwa5623","url":null,"abstract":"Zweck. Sports Vision ist ein Bereich, der die Beziehung zwi- schen visuellen Fähigkeiten und sportlicher Leistung trainiert. Das Gebiet konzentriert sich darauf, wie die Sehfähigkeiten des Athleten die Effizienz, Genauigkeit und Reaktionszeit beeinflussen und somit zu ihrem Wettbewerbsvorteil in ver- schiedenen Sportarten beitragen. Das visuelle System spielt eine entscheidende Rolle bei der Erfassung und Verarbeitung sensorischer Informationen während sportlicher Aktivitäten, wie beispielsweise dem Verfolgen beweglicher Objekte, der Beurteilung von Tiefe und Entfernung und dem konzentrierten Fokussieren auf wichtige Ziele.","PeriodicalId":347784,"journal":{"name":"Optometry & Contact Lenses","volume":"45 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139214025","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Temperaturabhängige Vermessung weicher Kontaktlinsen 软性隐形眼镜的温度测量
Optometry & Contact Lenses Pub Date : 2023-11-29 DOI: 10.54352/dozv.dkor3596
Sandra Schurig, Lucas Armster, Eric Steingruber, Sebastian Marx, W. Sickenberger
{"title":"Temperaturabhängige Vermessung weicher Kontaktlinsen","authors":"Sandra Schurig, Lucas Armster, Eric Steingruber, Sebastian Marx, W. Sickenberger","doi":"10.54352/dozv.dkor3596","DOIUrl":"https://doi.org/10.54352/dozv.dkor3596","url":null,"abstract":"Purpose. The study objective was to measure the tempera- ture-dependent change in the refractive index, base curve, and back vertex power of soft contact lenses. Material and Methods. For each material group according to ISO 18369-1 a representative soft contact lens brand was selected according to ISO 18369-1 (polymacon, nelfilcon A, ocufilcon D, balafilcon A, somofilcon A, lotrafilcon B). The parameters were measured in vitro at 20 °C and 35 °C. First, the refractive index was determined using the automatic refractometer (VariRef C, Schmidt + Haensch), followed by the base curve measurement using the OCT (is830, Opti- mec) in conjunction with the temperature controller (TC20i, Opitmec). The back vertex power difference was determined using the precision lens meter (NIMO TR1504, Lambda-X SA). Results. The following values (refractive index 20 °C // re- fractive index 35 °C; base curve 20 °C // base curve 35 °C; Li back vertex power from 20 °C to 35 °C) were obtained for the hydrogels polymacon (1.4464 // 1.4430; 8.4706 // 8.4240; −0.077 D), nelfilcon A (1.3875 // 1.3870; 8.7854 // 8.5817; −0.022 D), ocufilcon D (1.4198 // 1.4171; 8.5622 // 8.4647; −0.076 D) and the silicone hydrogels balafilcon A (1.4197 // 1.4196; 8.7205 // 8.8287; −0.016 D), somofilcon A (1.4024 // 1.4004; 8.9100 // 8.6800; −0.076 D), lotrafilcon B (1.4246 // 1.4212; 8.6791 // 8.5801; −0.091 D). All materials except balafil- con A showed a statistically significant change (p < 0.05 paired samples), related to at least two of the measured parameters. Conclusion. The materials showed a reduction in refractive index and base curve with temperature increase. The back vertex power became more negative. The changes are within the tolerances specified in ISO 18369-2. Since no clinically relevant parameter changes were observed between the dif- ferent temperatures, it is acceptable to continue the current practice and measure lens parameters at room temperatures. Keywords Contact lenses, contact lens properties, measuring temperature","PeriodicalId":347784,"journal":{"name":"Optometry &amp; Contact Lenses","volume":"12 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139214006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Okkulte Makuladystrophie – eine Fallserie 隐性黄斑营养不良--病例系列
Optometry &amp; Contact Lenses Pub Date : 2023-10-30 DOI: 10.54352/dozv.aqhh4303
Stephen Dellostritto, Sarah Gleason, S. Bass
{"title":"Okkulte Makuladystrophie – eine Fallserie","authors":"Stephen Dellostritto, Sarah Gleason, S. Bass","doi":"10.54352/dozv.aqhh4303","DOIUrl":"https://doi.org/10.54352/dozv.aqhh4303","url":null,"abstract":"Purpose. This case series showcases three patients with mild variation in phenotypic presentations of Occult Macular Dystrophy (OCMD), an autosomal-dominant inherited retinal dystrophy (IRD) associated with a retinitis pigmentosa-1-like-1 (RP1L1 ) gene mutation. All cases have confirmed RP1L1 gene mutations and display a range of phenotypic expressions on various imaging modalities and visual acuities. Material and Methods. Three patients of the University Eye Center (UEC) with confirmed RP1L1 gene mutations presented for follow-up or baseline imaging to rule out inherited retinal disease. All patients underwent fundus photography with and without fundus autofluorescence (FAF), optical coherence tomography (OCT), genetic testing, visual fields, and electrodiagnostic testing such as multifocal electroretinogram (mfERG) and/or full-field electroretinogram (ffERG). Results. In two of the three cases, minimal to no funduscopic changes are appreciated on ophthalmoscopy or fundus photography with and without FAF. Effects of OCMD can only be appreciated on OCT imaging, including attenuation or disruption of the photoreceptor integrity line (PIL), and cen- tral depression on visual field testing. One of the three cases displays an unusual presentation with asymmetric central outer retinal atrophy that can be appreciated on fundoscopy as well as other imaging modalities. Conclusion. Although individuals with this IRD typically funduscopically appear normal, there may be a phenotypic spectrum impacting visual potential. Diagnosis of this con- dition is heavily dependent on macular OCT, electrophysio- logical testing, and genetic testing. Keywords Occult Macular Dystrophy, RP1L1, inherited retinal disease, electroretinogram, OCT","PeriodicalId":347784,"journal":{"name":"Optometry &amp; Contact Lenses","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139310985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Orthokeratologie im Straßenverkehr – eine Stichprobe 道路交通中的角膜矫形术--随机抽样
Optometry &amp; Contact Lenses Pub Date : 2023-10-30 DOI: 10.54352/dozv.coui9531
Stefan Bandlitz, Jessica Gruhl, James S. Wolffsohn
{"title":"Orthokeratologie im Straßenverkehr – eine Stichprobe","authors":"Stefan Bandlitz, Jessica Gruhl, James S. Wolffsohn","doi":"10.54352/dozv.coui9531","DOIUrl":"https://doi.org/10.54352/dozv.coui9531","url":null,"abstract":"Purpose. The German regulation on granting persons permission to drive on the road specifies minimum visual requirements for obtaining a driving licence. The aim of this pilot study was to determine orthokeratology-related diurnal variations in visual acuity, contrast sensitivity and mesopic vision, as well as sensitivity to glare, and to verify compliance with the requirements for obtaining a driving licence. Material and Methods. Ten orthokeratology lens wearers (26.0 ± 7.1 years) with myopia of −2.43 ± 0.97 D and astig- matism of −0.31 ± 0.41 D were tested twice daily (08:30 and 20:30 h) with the Binoptometer 4P (Oculus, Wetzlar, Ger- many). Monocular and binocular visual acuity were tested according to the ISO 8596 and compared with the visual acu- ity requirements for obtaining a driving licence. In addition, binocular contrast and mesopic vision as well as sensitivity to glare were tested in both exams. Differences between the morning and evening examinations were determined using the paired t-test or the Wilcoxon signed-rank test (for non-normally distributed data). Results. There was no statistically significant difference between monocular visual acuity (logMAR) in the morning (right −0.07 ± 0.16; left −0.03 ± 0.15) and evening (right −0.09 ± 0.14; left −0.06 ± 0.17) (p = 0.875; p = 0.353) or binocular visual acuity in the morning (−0.11 ± 0.15) and evening (−0.13 ± 0.13) (p = 0.500). Decimal visual acuity ranged monocularly from 0.63 to 2.00 and binocularly from 0.70 to 2.00. This corre- sponds to the threshold value of an ophthalmological as- sessment for visual acuity of the better eye or for a binocular visual acuity of 0.5. There was no statistically significant difference between the quality of contrast vision in the morning (mean We- ber contrast 11.5 ± 3.4 %) and in the evening (15.5 ± 9.3 %) (p = 0.070), and mesopic vision and glare sensitivity in the morning (both 0.27 ± 0.09 logCS) and in the evening (both 0.27 ± 0.09 logCS) (p = 1.000). Conclusion. Visual acuity, contrast sensitivity, mesopic vision and sensitivity to glare were stable throughout the day in this sample for orthokeratology lens wearers. The requirements of the eye test needed to drive were fulfilled by all but one of the participants in the standard eye test, both in the morning and evening examinations. A more comprehensive eye test was also carried out. This was passed by all test subjects, both in the morning and evening examinations. Keywords Orthokeratology, driving licence regulation, ISO 8596, ophthalmological assessment, mesopic vision, sensitivity to glare","PeriodicalId":347784,"journal":{"name":"Optometry &amp; Contact Lenses","volume":"16 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139310486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Klinische Anwendung der Hochdurchsatz-Sequenzierung (next-generation sequencing, NGS) bei der Diagnostik des Usher-Syndroms 高通量测序(新一代测序,NGS)在诊断乌谢尔综合征中的临床应用
Optometry &amp; Contact Lenses Pub Date : 2023-10-30 DOI: 10.54352/dozv.crqo4102
A. Höing, A. Volk, H. Bolz
{"title":"Klinische Anwendung der Hochdurchsatz-Sequenzierung (next-generation sequencing, NGS) bei der Diagnostik des Usher-Syndroms","authors":"A. Höing, A. Volk, H. Bolz","doi":"10.54352/dozv.crqo4102","DOIUrl":"https://doi.org/10.54352/dozv.crqo4102","url":null,"abstract":"Purpose. The aim of this publication is to describe the clinical application of high-throughput sequencing (next-generation sequencing, NGS) and its advantages compared with Sanger sequencing using Usher syndrome as an example. Material and Methods. Genetic diagnostics is subject to rapid progress. The identification of disease-causing genetic alter- ations enables increasingly accurate diagnosis of hereditary diseases, making it possible to give affected individuals more precise information about the nature of the disease (course, treatment options, prognosis). Genetic diagnostics of patients and their relatives enables not only to determine the diagnosis of a disease, but its recurrence risk in the family. Results. Usher syndrome is an autosomal recessively inherited disorder, characterized by sensorineural hearing impairment and vision loss (due to retinitis pigmentosa). Several genes are known to be associated with 3 clinical subtypes of Usher syndrome. Conclusion. Advances in genetic diagnostics, including high-throughput sequencing (next-generation sequencing, NGS), today enable uncomplicated, quick and reliable diagno- sis of genetic eye diseases such as Usher syndrome. Through their own diagnosis (or the diagnosis of their child), patients and families can be informed about the prognosis and use meaningful tools early on. Family members of an affected person can be tested for carriership. Keywords Usher syndrome, next-generation sequencing, genetic testing, genetic counseling, genetic heterogeneity","PeriodicalId":347784,"journal":{"name":"Optometry &amp; Contact Lenses","volume":"43 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139310054","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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