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There are more than 300 genes that have been identified which carry mutations that cause various forms of retinal dysfunction and degeneration, making the study of retinal diseases a subject of high relevance. In this compendium of original and review articles, many of the diseases and pathways associated with disorders of the retina are examined using animal models, to provide the reader with a good overview of current retinal research. Within this volume, you will find research reports on many of the most prominent retinal disorders, such as diabetic retinopathy (DR), age-related macular degeneration (AMD), choroidal neovascularization (CNV), and retinitis pigmentosa (RP). We hope that the work presented here will stimulate new ideas and lead to effective treatments for retinal diseases.
There are more than 300 genes that have been identified which carry mutations that cause various forms of retinal dysfunction and degeneration, making the study of retinal diseases a subject of high relevance. In this compendium of original and review articles, many of the diseases and pathways associated with disorders of the retina are examined using animal models, to provide the reader with a good overview of current retinal research. Within this volume, you will find research reports on many of the most prominent retinal disorders, such as diabetic retinopathy (DR), age-related macular degeneration (AMD), choroidal neovascularization (CNV), and retinitis pigmentosa (RP). We hope that the work presented here will stimulate new ideas and lead to effective treatments for retinal diseases.
This book focuses on the physiology and molecular biology of the front and back regions of the eye. Specifically, the chapters of this book cover topics that explain currently less understood aspects of retinal health as well as the use of zebrafish models to understand the molecular pathogenesis of associated diseases. This includes retinitis pigmentosa, diabetic retinopathy ciliopathies in the eye, rhodopsin trafficking and associated disorders, and the biochemistry of cone defects. This book serves as a useful reference for scientists and graduate students seeking to understand protein trafficking mechanisms and metabolic control in retinal diseases.
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.
This important book presents review articles on the cell biology of photoreceptor and RPE cells, as well as the relationship between this cell biology and inherited photoreceptor degeneration. The chapters have been written by leaders in the field. The vision scientist will see this book as a review of photoreceptor and RPE cell biology, and known molecular bases of many forms of retinitis pigmentosa and related retinal degeneration.
This book discusses why specific diseases are being targeted for cell-based retinal therapy, what evidence exists that justifies optimism for this approach, and what challenges must be managed in order to bring this technology from the laboratory into routine clinical practice. There are a number of unanswered questions (e.g., surgical approach to cell delivery, management of immune response, optimum cell type to transplant) that very likely are not going to be answered until human trials are undertaken, but there is a certain amount of “de-risking” that can be done with preclinical experimentation. This book is essential reading for scientists, clinicians, and advanced students in stem cell research, cell biology, and ophthalmology.
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.
Contains the proceedings of the XVI International Symposium on Retinal Degeneration (RD2014), to be held July 13-18, 2014 at the Asilomar Conference Center in Pacific Grove, California. A majority of those who will speak and present posters at the meeting will contribute to this volume. The Symposium addresses the blinding diseases of inherited retinal degenerations, which have no effective treatments and age-related macular degeneration, which has no cures, despite the fact that it is an epidemic among the elderly, with 1 in 3-4 affected by the age of 75. The RD2014 Symposium will focus on the exciting new developments aimed at understanding these diseases and providing therapies for them. 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; molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy; and several sight restoration approaches, including optogenetics. While advances in these areas of retinal degenerations will be included, several new topics either were in their infancy or did not exist at the time of the last RD Symposium, RD2012. These include many new developments in sight restoration using optogenetics, retinal or RPE cell transplantation, stem cell approaches and visual prosthetic devices. In addition, major advances will be presented in other basic mechanisms in age-related macular degeneration, several new aspects of gene and antioxidant therapy and revolutionary new imaging and functional testing that will have a huge impact on the diagnosis and following the course of retinal degenerations, as well as to provide new quantitative endpoints for clinical trials. The retina is an approachable part of the central nervous system (CNS), and there is a major interest in neuroprotective and gene therapy for CNS diseases and neurodegenerations, in general. It should be noted that with successful and exciting initial clinical trials in neuroprotective and gene therapy, including the restoration of sight in blind children, the retinal degeneration therapies are leading the way towards new therapeutic measures for neurodegenerations of the CNS. Many of the successes recently reported in these areas of retinal degeneration sprang from collaborations established at previous RD Symposia, and many of those will be reported at the RD2014 meeting and included.
Over the past decades, knowledge about the cellular and molecular basis underlying the visual process has remarkably increased. In Retinal Degeneration: Methods and Protocols, expert researchers in the field provide a guide of relevant and state-of-the-art methods for studying retinal homeostasis and disease. These include methods and techniques for addressing cell culture systems and animal models of disease, their generation, their phenotypic and molecular characterization as well as their use in therapeutic approaches to the retina. Written in the highly successful Methods in Molecular BiologyTM series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and key tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Retinal Degeneration: Methods and Protocols aids scientists in continuing to study the cutting-edge techniques of retinal cell biology in health and disease.
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.