Inherited Retinal Disease
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Atlas of Inherited Retinal Diseases
Author | : Stephen H. Tsang,Tarun Sharma |
Publsiher | : Springer |
Total Pages | : 274 |
Release | : 2018-12-21 |
Genre | : Medical |
ISBN | : 9783319950464 |
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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.
Inherited Retinal Disease
Author | : Hyeong-Gon Yu |
Publsiher | : Springer Nature |
Total Pages | : 237 |
Release | : 2022-03-11 |
Genre | : Medical |
ISBN | : 9789811673375 |
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This book presents the latest knowledge and expert guidance on all aspects of inherited retinal diseases, including molecular genetics, diagnosis, clinical features, general principles of treatment, novel treatment methods, and genetic counseling. Recent years have witnessed great advances in understanding of the genetic and cytological background of these diseases. Genetic analysis methods such as next generation sequencing have remarkably reduced the cost and time required for massive analysis of patients’ samples. Studies on gene therapy and stem cell therapy have been successfully carried out in animal models, and gene therapy is now available for Leber congenital amaurosis caused by RPE65 mutations. Against this background, Inherited Retinal Disease will be an invaluable up-to-date resource for ophthalmologists, medical students, and researchers in ocular inflammation. In addition to supplying essential information on each individual disorder, it features many interesting cases contributed by global leaders in the field as well as clinical photographs obtained with newer imaging techniques and numerous images of rare but clinically important diseases.
Inherited Retinal Diseases
Author | : Juan M. Jiménez-Sierra,Thomas E. Ogden,Gretchen B. Van Boemel |
Publsiher | : Unknown |
Total Pages | : 312 |
Release | : 1989 |
Genre | : Medical |
ISBN | : UOM:39015014485109 |
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Medical Retina
Author | : Frank G Holz,Richard F. Spaide |
Publsiher | : Springer Science & Business Media |
Total Pages | : 227 |
Release | : 2010-03-18 |
Genre | : Medical |
ISBN | : 9783540855408 |
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Recent advances in ophthalmic imaging technology have revolutionized fundus examination and contributed significantly in elucidating the pathophysiology of retinal diseases and improving their diagnosis and treatment. It is therefore fitting that this detailed full-color textbook in the Medical Retina series is devoted to ocular imaging. The volume reviews in detail the role of both established and novel forms of imaging, and is designed to be of benefit to clinicians and researchers alike. All of the chapters have been written by internationally recognized experts at the forefront of their fields. The result is a comprehensive, state-of-the-art overview of retinal imaging that should prove informative and useful for everyone interested in the retina. Topics include: •Spectral domain optical coherence tomography (SD-OCT) of macular diseases •Comparison of OCT equipment •Simultaneous SD-OCT and confocal SLO imaging •Ultra-widefield imaging °Autofluorescence imaging •Near-infrared imaging •Macular pigment imaging •Metabolic mapping •Imaging of the choroid •Imaging the vitreous and the vitreoretinal interface with SD-OCT •New developments in OCT technology •Molecular imaging
Retinal Degenerative Diseases
Author | : Matthew M. LaVail,John Ash,Robert E. Anderson,Joe G. Hollyfield,Christian Grimm |
Publsiher | : Springer Science & Business Media |
Total Pages | : 867 |
Release | : 2011-12-21 |
Genre | : Medical |
ISBN | : 9781461406310 |
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This book will contain the proceedings of the XIV International Symposium on Retinal Degeneration (RD2010), held July 13-17, 2010, in Mont-Tremblant, Quebec, Canada. The volume will present representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy.
Insights into Genetic Retinal Diseases
Author | : Saber Imani,Junjiang Fu |
Publsiher | : Cambridge Scholars Publishing |
Total Pages | : 388 |
Release | : 2024-02-07 |
Genre | : Medical |
ISBN | : 9781527577367 |
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This book is the definitive guide to cutting-edge research in genetic retinal diseases. This compilation brings together the collective wisdom of leading experts in the field, offering a comprehensive and up-to-date resource that is as enlightening as it is invaluable. The book focuses on next-generation sequencing, a revolutionary technology that has transformed our understanding of retinal diseases, and it delves deep into the intricacies of this rapidly evolving field, unearthing unknown genetic mutations that underlie these conditions and unveiling innovative diagnostic tools and treatments that hold the promise of transforming lives, as well as sharing the latest developments in a field that holds the key to preserving and restoring one of our most precious senses—vision. With a clear writing style, this book is accessible to researchers, clinicians, and anyone with a curiosity for unraveling the mysteries of genetic retinal diseases.
Macular Dystrophies
Author | : Giuseppe Querques,Eric Souied |
Publsiher | : Springer |
Total Pages | : 120 |
Release | : 2016-02-15 |
Genre | : Medical |
ISBN | : 9783319266213 |
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This book provides the ophthalmologist with the most recently available data on the macular dystrophies, a group of many different inherited or sporadic eye conditions linked by a problem with photoreceptors or other structures of the central retina. Internationally recognized experts in the field present the latest evidence and discuss their own personal experiences with regard to each of the principal dystrophies as well as some very rare entities. Topics covered include molecular biology, state-of-the-art diagnostic techniques, and the newest treatment options, including still experimental therapies. Attention is also devoted to a range of issues that continue to be debated. The editors have taken care to ensure that chapters are of a uniformly high standard while not sacrificing the originality of the individual authors. Macular Dystrophies will fully acquaint the reader with both the latest research findings and the current and emerging approaches to diagnosis and treatment.
Inherited Chorioretinal Dystrophies
Author | : Bernard Puech,Jean-Jacques De Laey,Graham E. Holder |
Publsiher | : Springer |
Total Pages | : 488 |
Release | : 2014-07-19 |
Genre | : Medical |
ISBN | : 9783540694663 |
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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.