Growth Factor Rescue Of Photoreceptor Degeneration In Animal Models Of Retinitis Pigmentosa

This book presents new and noteworthy research into retinal diseases. It focuses on what we currently know about the environment, genetics and mechanisms that lead to retinal degenerations, new diagnostics, and innovative therapeutic modalities to preserve vision. Written by renowned scientific investigators, this innovative collection of treatment strategies and technological discoveries allows for the realistic translation of research into practice.

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 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.

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.

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 book focuses on the emerging non-invasive imaging technique of Fluorescence Lifetime Imaging Ophthalmoscopy (FLIO). FLIO reveals unique information on retinal diseases, ranging from age-related macular degeneration and vascular diseases to hereditary retinal dystrophies. Fluorescence lifetimes enable the evaluation of disease progression before irreversible structural changes occur. The image acquisition is suitable for diagnostic purposes and follow-up examinations to investigate the natural course of disease, and to monitor the effects of possible therapies. This book fills the gap between available literature and gives state-of-the-art guidance on the principles of the FLIO technique, image acquisition, and data analysis. Written by a team of expert leaders within this field, this book will be relevant for scientists and clinicians with an interest in ophthalmoscopy.