Inherited Retinal Diseases
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Inherited Retinal Diseases
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Author : Juan M. Jiménez-Sierra
language : en
Publisher:
Release Date : 1989
Inherited Retinal Diseases written by Juan M. Jiménez-Sierra and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1989 with Medical 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.
Insights Into Genetic Retinal Diseases
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Author : Saber Imani
language : en
Publisher: Cambridge Scholars Publishing
Release Date : 2024-02-07
Insights Into Genetic Retinal Diseases written by Saber Imani and has been published by Cambridge Scholars Publishing this book supported file pdf, txt, epub, kindle and other format this book has been release on 2024-02-07 with Medical categories.
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.
Molecular Therapies For Inherited Retinal Diseases
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Author : Rob W J Collin
language : en
Publisher:
Release Date : 2020-10-07
Molecular Therapies For Inherited Retinal Diseases written by Rob W J Collin and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-10-07 with categories.
Following the implementation of next-generation sequencing technologies (e.g., exome and genome sequencing) in molecular diagnostics, the majority of genetic defects underlying inherited retinal disease (IRD) can readily be identified. In parallel, opportunities to counteract the molecular consequences of these defects are rapidly emerging, providing hope for personalized medicine. 'Classical' gene augmentation therapy has been under study for several genetic subtypes of IRD and can be considered a safe and sometimes effective therapeutic strategy. The recent market approval of the first retinal gene augmentation therapy product (LuxturnaTM, for individuals with bi-allelic RPE65 mutations) by the FDA has not only demonstrated the potential of this specific approach, but also opened avenues for the development of other strategies. However, every gene-or even every mutation-may need a tailor-made therapeutic approach, in order to obtain the most efficacious strategy with minimal risks associated. In addition to gene augmentation therapy, other subtypes of molecular therapy are currently being designed and/or implemented, including splice modulation, DNA or RNA editing, optogenetics and pharmacological modulation. In addition, the development of proper delivery vectors has gained strong attention, and should not be overlooked when designing and testing a novel therapeutic approach. In this Special Issue, we aim to describe the current state of the art of molecular therapeutics for IRD, and discuss existing and novel therapeutic strategies, from idea to implementation, and from bench to bedside.
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.
Degenerative Retinal Diseases
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Author : Matthew M. LaVail
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Degenerative Retinal Diseases written by Matthew M. LaVail 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 2012-12-06 with Medical categories.
Since 1984, we have organized Satellite Symposia on Retinal Degenerations that are held in conjunction with the biennial International Congress of Eye Research. The timing and location of our Retinal Degeneration Symposia have all owed scientists and clinicians from around the world to convene and present their exciting new findings. The symposia have been arranged to allow ample time for discussions and one-on-one interactions in a relaxed atmos phere, where international friendships and collaborations could be established. The II International Symposium (also known as the Sendai Symposium on Retinal Degeneration) was held in 1986 in Sendai, Japan, on the occasion of the retirement of Kat suyoshi Mizuno as Professor and Chairman of Ophthalmology at Tohoku Medical SchooL On October 5-9, 1996, we returned to Sendai, where the VII International Symposium was held at the Miyagi Zao resort hotel in the beautiful Mt. Zao region of northern Japan. This meeting was held on the occasion of the tenth anniversary of Makoto Tarnai as Pro fessor and Chairman of Ophthalmology at Tohoku Medical School. One afternoon of the meeting contained a special symposium in honor of Professor Tarnai, who has signifi cantly elevated the level and intensity of research on retinal degenerations at his university and in Japan during this past decade.
Retina Basic Science And Inherited Retinal Disease Tumors
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Author : Stephen J. Ryan
language : en
Publisher:
Release Date : 1994
Retina Basic Science And Inherited Retinal Disease Tumors written by Stephen J. Ryan and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1994 with Retina categories.
Inherited Eye Diseases
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Author : Saul Merin
language : en
Publisher:
Release Date : 2005
Inherited Eye Diseases written by Saul Merin and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2005 with Eye categories.
Covering the entire spectrum of inherited eye diseases, including retinal degenerative disorders that lead to vision loss, this guide devotes entire chapters to specific diseases such as glaucoma and strabismus-offering clinical descriptions, laboratory tests, methods to confirm diagnoses, and insights into disease pathology, epidemiology, and genetics; studies recently identified genes and the identification and management of new eye disorders; reviews the clinical evaluation, prognostic assessment, and management of inherited eye diseases; and presents chapters according to the affected tissue or disease entity-serving as a quick and easily-accessible guide for busy practitioners and optometrists.
Retinal Degenerative Diseases
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Author : Matthew M. LaVail
language : en
Publisher: Springer Science & Business Media
Release Date : 2011-12-21
Retinal Degenerative Diseases written by Matthew M. LaVail 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 2011-12-21 with Medical categories.
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.