Retinal Dystrophy Gene Atlas

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.

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.

Over 5,000 illustrations of the latest imaging and research findings essential for effective diagnosis of retinal disorders populate this atlas. A unique page layout consisting of optimally positioned panoramic images, magnified photos, and histopathological specimens illustrate key manifestations, giving you the best visual display of each disease. In addition, composite images using different retinal imaging modalities, including the latest in optical coherence tomography (OCT), fluorescein angiography, indocyanine green (ICG), and fundus autofluorescence display how a disease appears in each imaging modality, allowing you to compare imaging methods and gain a better understanding of each disorder.

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.

With more than 5,000 images and comprehensive illustrations of the entire spectrum of vitreous, retina, and macula disorders, The Retinal Atlas, 2nd Edition, is an indispensable reference for retina specialists and comprehensive ophthalmologists as well as residents and fellows in training. For this edition, an expanded author team made up of Drs. K. Bailey Freund, David Sarraf, William F. Mieler, and Lawrence A. Yannuzzi, each an expert in retinal research and imaging, provide definitive up-to-date perspectives in this rapidly advancing field. This award-winning title has been thoroughly updated with new images with multimodal illustrations, new coverage and insight into key topics, and new disorders and classifications making it the most useful and most complete atlas of its kind. Provides a complete visual guide to advanced retinal imaging and diagnosis of the full spectrum of retinal diseases, including early and later stages of disease. Enhances understanding by presenting comparison imaging modalities, composite layouts, high-power views, panoramic disease visuals, and selected magnified areas to hone in on key findings and disease patterns. Features color coding for different imaging techniques, as well as user-friendly arrows, labels, and magnified images that point to key lesions and intricacies. Covers all current retinal imaging methods including: optical coherence tomography (OCT), indocyanine green angiography, fluorescein angiography, and fundus autofluorescence. Depicts and explains expanding OCT uses, including spectral domain and en face OCT, and evolving retinal imaging modalities such as ultra-wide-field fundus photography, angiography and autofluorescence. Presents a select team of experts, all of whom are true international leaders in retinal imaging, and have assisted in contributing to the diverse library of common and rare case illustrations.

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 3 volume set offers a comprehensive compilation which presents detailed information about ophthalmic (retinal, vitreous and macular) diseases. Key features of this set include: o Emphasis on practical features of clinical diagnosis o Concise and didactic presentation of key manifestations of diseases designed for rapid reference and target recall o A vast selection of illustrations to sharpen clinical problem-solving skills o Step by step treatment approaches to enhance the reader’s ability to handle medical cases o Citations or relevant research articles in each chapter for further reading The third volume of this set covers eye infections (bacterial and viral), inflammatory disorders and neoplasms. Written by a group of retina specialists, this book is an excellent resource for knowledge about retinal disorders. The streamlined format and evidence based medicine presented in the volume make this book the perfect reference for medical students, residents, general ophthalmologists and retina specialists.

The Atlas of Intellectual Disability Syndromes presents a concise description of 150 clinically distinctive syndromes caused by genes on the X chromosome. Each entry includes photographs and a differential matrix of similar syndromes. Appendices identify syndromes with common features and provide the location or mapping limits and function of responsible genes.