Retinal Dystrophy Gene Atlas

Author : Sarwar Zahid
Publisher : Springer
ISBN 13 : 3319108670
Total Pages : 279 pages
Book Rating : 4.74/5 ( download)

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Download or read book Retinal Dystrophy Gene Atlas written by Sarwar Zahid and published by Springer. This book was released on 2018-06-25 with total page 279 pages. Available in PDF, EPUB and Kindle. Book excerpt: Classically, photo atlases of retinal dystrophies have been divided into sections that describe and depict a particular retinal finding or disease, after which a differential diagnosis of potential diseases or mutated genes is provided. However, given the rapid improvement in molecular diagnostics, and the exponential increase in our understanding of the phenotypes caused by each mutated gene, the paradigm has changed. Physicians are now more interested in the variable expressivity associated with mutations in each individual gene. Therefore, Retinal Dystrophy Gene Atlas catalogs the different phenotypes that have been reported with each mutated gene. Each section describes a gene and its known clinical phenotypes and features of disease, along with retinal photos of affected patients. Written by prominent retinal dystrophy specialists from the largest dystrophy centers worldwide, Retinal Dystrophy Gene Atlas contains more than 80 chapters, each of which describes the clinical and photographic manifestations of a specific gene. The chapters include stunning clinical color photographs of the retina, autofluorescence imaging, electrophysiologic findings, and cross-sectional imaging. Retinal Dystrophy Gene Atlas serves as a resource to aid genetic diagnosis in patients with retinal dystrophies.

Author : Stephen H. Tsang
Publisher : Springer
ISBN 13 : 3319950460
Total Pages : 274 pages
Book Rating : 4.64/5 ( download)

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Download or read book Atlas of Inherited Retinal Diseases written by Stephen H. Tsang and published by Springer. This book was released on 2018-12-21 with total page 274 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.

Author : Lawrence A. Yannuzzi
Publisher : Elsevier Health Sciences
ISBN 13 : 0702033200
Total Pages : 929 pages
Book Rating : 4.09/5 ( download)

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Download or read book The Retinal Atlas written by Lawrence A. Yannuzzi and published by Elsevier Health Sciences. This book was released on 2010-01-01 with total page 929 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over 5,000 illustrations of the latest imaging and research findings essential for effective diagnosis of retinal disorders populate this atlas. A unique page layout consisting of optimally positioned panoramic images, magnified photos, and histopathological specimens illustrate key manifestations, giving you the best visual display of each disease. In addition, composite images using different retinal imaging modalities, including the latest in optical coherence tomography (OCT), fluorescein angiography, indocyanine green (ICG), and fundus autofluorescence display how a disease appears in each imaging modality, allowing you to compare imaging methods and gain a better understanding of each disorder.

Author : Bernard Puech
Publisher : Springer
ISBN 13 : 3540694668
Total Pages : 488 pages
Book Rating : 4.63/5 ( download)

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Download or read book Inherited Chorioretinal Dystrophies written by Bernard Puech and published by Springer. This book was released on 2014-07-19 with total page 488 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : K. Bailey Freund
Publisher : Elsevier Health Sciences
ISBN 13 : 032328793X
Total Pages : 928 pages
Book Rating : 4.37/5 ( download)

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Download or read book The Retinal Atlas E-Book written by K. Bailey Freund and published by Elsevier Health Sciences. This book was released on 2016-11-14 with total page 928 pages. Available in PDF, EPUB and Kindle. Book excerpt: With more than 5,000 images and comprehensive illustrations of the entire spectrum of vitreous, retina, and macula disorders, The Retinal Atlas, 2nd Edition, is an indispensable reference for retina specialists and comprehensive ophthalmologists as well as residents and fellows in training. For this edition, an expanded author team made up of Drs. K. Bailey Freund, David Sarraf, William F. Mieler, and Lawrence A. Yannuzzi, each an expert in retinal research and imaging, provide definitive up-to-date perspectives in this rapidly advancing field. This award-winning title has been thoroughly updated with new images with multimodal illustrations, new coverage and insight into key topics, and new disorders and classifications making it the most useful and most complete atlas of its kind. Provides a complete visual guide to advanced retinal imaging and diagnosis of the full spectrum of retinal diseases, including early and later stages of disease. Enhances understanding by presenting comparison imaging modalities, composite layouts, high-power views, panoramic disease visuals, and selected magnified areas to hone in on key findings and disease patterns. Features color coding for different imaging techniques, as well as user-friendly arrows, labels, and magnified images that point to key lesions and intricacies. Covers all current retinal imaging methods including: optical coherence tomography (OCT), indocyanine green angiography, fluorescein angiography, and fundus autofluorescence. Depicts and explains expanding OCT uses, including spectral domain and en face OCT, and evolving retinal imaging modalities such as ultra-wide-field fundus photography, angiography and autofluorescence. Presents a select team of experts, all of whom are true international leaders in retinal imaging, and have assisted in contributing to the diverse library of common and rare case illustrations.

Author : Elias I. Traboulsi
Publisher : OUP USA
ISBN 13 : 0195326148
Total Pages : 940 pages
Book Rating : 4.47/5 ( download)

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Download or read book Genetic Diseases of the Eye written by Elias I. Traboulsi and published by OUP USA. This book was released on 2012-01-12 with total page 940 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare diseases. The chapters are heavily illustrated and provide a good Atlas for the practicing ophthalmologist or geneticist.

Author : Roger E. Stevenson
Publisher : Oxford University Press
ISBN 13 : 0199811792
Total Pages : 363 pages
Book Rating : 4.93/5 ( download)

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Download or read book Atlas of X-Linked Intellectual Disability Syndromes written by Roger E. Stevenson and published by Oxford University Press. This book was released on 2012-07-12 with total page 363 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Atlas of Intellectual Disability Syndromes presents a concise description of 150 clinically distinctive syndromes caused by genes on the X chromosome. Each entry includes photographs and a differential matrix of similar syndromes. Appendices identify syndromes with common features and provide the location or mapping limits and function of responsible genes.

Author : Gregory R. Bock
Publisher : John Wiley & Sons
ISBN 13 : 0470092637
Total Pages : 226 pages
Book Rating : 4.37/5 ( download)

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Download or read book Retinal Dystrophies written by Gregory R. Bock and published by John Wiley & Sons. This book was released on 2004-04-02 with total page 226 pages. Available in PDF, EPUB and Kindle. Book excerpt: Retinal dystrophies are the major causes of incurable blindness in the Western world. Our insight into their aetiology has improved remarkably over the past decade and a number of key genes have been identified. Together with a more detailed understanding of disease processes, this knowledge is stimulating new approaches to therapeutic strategies involving gene therapy, growth factors and retinal cell transplantation. Molecular genetic studies have provided detailed information on the pathogenesis of retinal dystrophies. An important proof of principle that gene therapy holds great promise for the treatment of these conditions was demonstrated in the rds mouse: introduction of a functional copy of the peripherin gene subretinally resulted in complete rescue of rod outer segment structure. Novel approaches are being developed based on the manipulation of biochemical pathways that previously were not considered relevant to these diseases. For example, renewed interest in retinal dystrophy pathogenesis led to the successful use of high dose vitamin A treatment in Sorsby fundus dystrophy. This important new book covers all aspects of retinal dystrophies from the molecular and developmental biology of these disorders to possible therapeutic approaches, with special reference to gene therapy. Specific chapters deal with the molecular genetics of gene therapies, clinical genetic studies, molecular and cellular mechanisms of the development of the disease, functional genomics of retinal diseases, animal models of retinal dystrophies, and finally with studies on gene therapeutic approaches to correcting the disorder. With contributions by many of the leading researchers worldwide, this book is likely to be an important milestone in this rapidly developing field.

Author : Mitzy E. Torres Soriano
Publisher : Bentham Science Publishers
ISBN 13 : 1681084155
Total Pages : 274 pages
Book Rating : 4.52/5 ( download)

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Download or read book Diagnostic Atlas of Retinal Diseases written by Mitzy E. Torres Soriano and published by Bentham Science Publishers. This book was released on 2017-04-12 with total page 274 pages. Available in PDF, EPUB and Kindle. Book excerpt: This 3 volume set offers a comprehensive compilation which presents detailed information about ophthalmic (retinal, vitreous and macular) diseases. Key features of this set include: o Emphasis on practical features of clinical diagnosis o Concise and didactic presentation of key manifestations of diseases designed for rapid reference and target recall o A vast selection of illustrations to sharpen clinical problem-solving skills o Step by step treatment approaches to enhance the reader’s ability to handle medical cases o Citations or relevant research articles in each chapter for further reading The third volume of this set covers eye infections (bacterial and viral), inflammatory disorders and neoplasms. Written by a group of retina specialists, this book is an excellent resource for knowledge about retinal disorders. The streamlined format and evidence based medicine presented in the volume make this book the perfect reference for medical students, residents, general ophthalmologists and retina specialists.

Author : Ruggero Caputo
Publisher : CRC Press
ISBN 13 : 1841842516
Total Pages : 448 pages
Book Rating : 4.16/5 ( download)

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Download or read book Atlas of Genodermatoses written by Ruggero Caputo and published by CRC Press. This book was released on 2005-12-12 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt: A lavishly illustrated guide to almost 200 inherited diseases of the skin, hair, and nails. Each entry includes synonyms, age of onset, clinical findings, complications, course, laboratory findings, diagnosis, therapy, and key references, adding up to far more than just a collection of photographs. In addition to being a clinical primer, this is also a work of scientific research and contains the first printed description of two new syndromes. The fast-moving world of genetic research means that the latest genetic correlations, included here, render previous texts out of date. All specialists in Dermatology and Pediatrics should find this an invaluable front-line resource in the clinic.