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Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations / EYS変異を有する網膜色素変性が日本における遺伝性網膜変性の最も高頻度を占めるOhashi(Arai), Yuuki 24 November 2016 (has links)
京都大学 / 0048 / 新制・課程博士 / 博士(社会健康医学) / 甲第20057号 / 社医博第75号 / 新制||社医||9(附属図書館) / 京都大学大学院医学研究科社会健康医学系専攻 / (主査)教授 山田 亮, 教授 小泉 昭夫, 教授 松田 文彦 / 学位規則第4条第1項該当 / Doctor of Public Health / Kyoto University / DFAM
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Fundus-controlled perimetry (microperimetry): Application as outcome measure in clinical trialsPfau, M., Jolly, J.K., Wu, Z., Denniss, Jonathan, Lad, E.M., Guymer, R.H., Fleckenstein, M., Holz, F.G., Schmitz-Valckenberg, S. 11 October 2021 (has links)
Yes / Fundus-controlled perimetry (FCP, also called 'microperimetry') allows for spatially-resolved mapping of visual sensitivity and measurement of fixation stability, both in clinical practice as well as research. The accurate spatial characterization of visual function enabled by FCP can provide insightful information about disease severity and progression not reflected by best-corrected visual acuity in a large range of disorders. This is especially important for monitoring of retinal diseases that initially spare the central retina in earlier disease stages. Improved intra- and inter-session retest-variability through fundus-tracking and precise point-wise follow-up examinations even in patients with unstable fixation represent key advantages of these technique. The design of disease-specific test patterns and protocols reduces the burden of extensive and time-consuming FCP testing, permitting a more meaningful and focused application. Recent developments also allow for photoreceptor-specific testing through implementation of dark-adapted chromatic and photopic testing. A detailed understanding of the variety of available devices and test settings is a key prerequisite for the design and optimization of FCP protocols in future natural history studies and clinical trials. Accordingly, this review describes the theoretical and technical background of FCP, its prior application in clinical and research settings, data that qualify the application of FCP as an outcome measure in clinical trials as well as ongoing and future developments.
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Assessing Motivations for Genetic Counseling and Testing, and the Impact of Genetic Testing in Individuals with Retinal DystrophiesPillis, Devin Marie 09 August 2022 (has links)
No description available.
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