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Titlebook: Inherited Chorioretinal Dystrophies; A Textbook and Atlas Bernard Puech,Jean-Jacques De Laey,Graham E. Holde Book 2014 The Editor(s) (if ap

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书目名称Inherited Chorioretinal Dystrophies
副标题A Textbook and Atlas
编辑Bernard Puech,Jean-Jacques De Laey,Graham E. Holde
视频video
概述Provides clear clinical descriptions of the inherited chorioretinal dystrophies.Describes the functional repercussions of these diseases.Presents up-to-date information on their genetic basis.Written
图书封面Titlebook: Inherited Chorioretinal Dystrophies; A Textbook and Atlas Bernard Puech,Jean-Jacques De Laey,Graham E. Holde Book 2014 The Editor(s) (if ap
描述This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorder have been summarised in an accessible, reader-friendly format for easy reference. The illustrations include colour fundus photographs, fluorescein angiograms, OCT scans, electrophysiological studies and pedigrees. The editors and authors are well-known experts in the field and have drawn upon their extensive experience to produce this unique atlas.
出版日期Book 2014
关键词Fluorescein Angiography; Genetics; Ophthalmoscopy; Retinal dystrophies; Visual functions
版次1
doihttps://doi.org/10.1007/978-3-540-69466-3
isbn_softcover978-3-662-51801-4
isbn_ebook978-3-540-69466-3
copyrightThe Editor(s) (if applicable) and The Author(s), under exclusive license to Springer-Verlag GmbH, DE
The information of publication is updating

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Dark AdaptationThis test is no more frequently used as it is time-consuming and not always easy to realize. Also the diagnostic information it provides is more easily obtained with electroretinography. Dark adaptation however has a theoretical importance to assess the quality of night vision.
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Retinitis Pigmentosa and Allied DisordersThere are more than 250 entries with the term retinitis pigmentosa in OMIM. More than half of them describe a systemic disease associated with retinal dystrophy, whether central, peripheral or mixed.
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Enhanced S-Cone SyndromeEnhanced S-cone syndrome (ESCS) is a rare autosomally recessively inherited disorder usually characterised by nummular pigmentary deposition in the region of the vascular arcades at the level of the RPE. The disorder was first so described in 1990.
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https://doi.org/10.1007/978-3-540-69466-3Fluorescein Angiography; Genetics; Ophthalmoscopy; Retinal dystrophies; Visual functions
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Late-Onset Retinal Dystrophy (LORD)e fundus. This progresses to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy. It was first recognised in the mid-1990s and is usually consequent upon mutation in ., but some patients have been reported who lack mutation in that gene.
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Stargardt Diseasen OMIM other diseases are identified under the name Stargardt disease (60010, 603786, 612948). These have a phenotype that resembles Stargardt disease but differ genetically and clinically. They should be named Stargardt-like disorders and will be considered separately.
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sents up-to-date information on their genetic basis.Written This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehen
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