Macular Dystrophies
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Macular Dystrophies
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Author : Giuseppe Querques
language : en
Publisher: Springer
Release Date : 2016-02-15
Macular Dystrophies written by Giuseppe Querques and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-02-15 with Medical categories.
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.
Retinal Dystrophies And Degenerations
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Author : David A. Newsome
language : en
Publisher: Lippincott Williams & Wilkins
Release Date : 1988
Retinal Dystrophies And Degenerations written by David A. Newsome and has been published by Lippincott Williams & Wilkins this book supported file pdf, txt, epub, kindle and other format this book has been release on 1988 with Medical categories.
Retinal Dystrophy Gene Atlas
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Author : Sarwar Zahid
language : en
Publisher: Springer
Release Date : 2018-06-25
Retinal Dystrophy Gene Atlas written by Sarwar Zahid and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-06-25 with Medical categories.
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.
The Hereditary Dystrophies Of The Posterior Pole Of The Eye
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Author : August F. Deutman
language : en
Publisher:
Release Date : 1971
The Hereditary Dystrophies Of The Posterior Pole Of The Eye written by August F. Deutman and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1971 with Dystrophy categories.
Retinal Dystrophies
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Author : Gregory R. Bock
language : en
Publisher: John Wiley & Sons
Release Date : 2004-04-02
Retinal Dystrophies written by Gregory R. Bock and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2004-04-02 with Science categories.
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.
Microperimetry And Multimodal Retinal Imaging
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Author : Edoardo Midena
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-12-12
Microperimetry And Multimodal Retinal Imaging written by Edoardo Midena and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-12-12 with Medical categories.
Microperimetry allows precise functional examination of the retina and optic nerve and is especially valuable for evaluation of the macular area. This fully up-to-date textbook on microperimetry, written by leading experts in the field, will also serve as an atlas and diagnostic reference. It is designed for use by both ophthalmologists and optometrists in daily clinical practice and clinical research, and the contents thus range from basic technical information to the most advanced clinical applications. Past and current microperimetry techniques are reviewed, and the role of microperimetry in the context of multimodal imaging scenario is explained. The full range of clinical applications is then discussed, including age-related macular degeneration, diabetes, myopia, retinal dystrophies, disorders of the vitreoretinal interface, inflammatory chorioretinal diseases, toxic retinopathies, glaucoma, and low vision.
Inherited Chorioretinal Dystrophies
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Author : Bernard Puech
language : en
Publisher: Springer
Release Date : 2014-07-19
Inherited Chorioretinal Dystrophies written by Bernard Puech and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-07-19 with Medical categories.
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.
Inherited Retinal Dystrophies A Light At The End Of The Tunnel
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Author : José M. Millan
language : en
Publisher: Frontiers Media SA
Release Date : 2023-10-30
Inherited Retinal Dystrophies A Light At The End Of The Tunnel written by José M. Millan and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-10-30 with Science categories.
Atlas Of Inherited Retinal Diseases
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Author : Stephen H. Tsang
language : en
Publisher: Springer
Release Date : 2018-12-21
Atlas Of Inherited Retinal Diseases written by Stephen H. Tsang and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-12-21 with Medical categories.
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
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Author : Hyeong-Gon Yu
language : en
Publisher: Springer Nature
Release Date : 2022-03-11
Inherited Retinal Disease written by Hyeong-Gon Yu and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-03-11 with Medical categories.
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.