Atlas Of Inherited Retinal Diseases

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 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.

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.

A comprehensive understanding of diseases of the peripheral retina is essential to the general ophthalmologist as well as to the vitreoretinal surgeon. Expertise in in direct ophthalmoscopy, scleral depression, and contact lens biomicroscopy serves as a basis for observing the peripheral retina. These observations are then re corded on fundus drawing paper and the Tolentino vitreo-retinal chart. This or derly sequence of skills allows the ophthalmic surgeon to objectively diagnose and evaluate specific peripheral retinal disorders and plan for their therapeutic management. The Clinical Atlas of Peripheral Retinal Disorders is a compilation of fundus paint ings by David A. Tilden based on our observations of a large number of patients over the past 15 years. The atlas is organized along functional and anatomical lines. After a brief introduction to the clinical anatomy of the peripheral retina, the appearance of the fundus as a function of skin color and aging is presented. Many of the diseases of the peripheral retina can be divided into trophic (nutritional), tractional, and a combination of trophic plus tractional etiologies. This classifica tion system, although somewhat simplistic, appears adequate for our present level of understanding of the pathogenetic mechanisms of these disorders. Un doubtedly, once the molecular biology of these conditions is elucidated through future research, the classification will be revised. In addition, there are other con ditions that affect the peripheral retina that do not fit the proposed classification system and are covered under separate headings, i. e.

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 second volume of this set covers several choroid and retinal disorders including, commotio retinae, choroidal rupture and macular trauma, retinal breaks and detachment, and a variety of congenital / genetic eye diseases such as Best’s disease and Stargardt disease. 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.

"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:Emphasis on practical features of clinical diagnosisConcise and didact"

Arguably the most important ancillary test available to ophthalmologists worldwide, optical coherence tomography (OCT) has revolutionized the field, and now includes angiographic evaluations (OCTA) that provide vascular flow data without eye injection. Handbook of Retinal OCT is an easy-to-use, high-yield guide to both OCT and OCTA imaging for practitioners at any stage of their career. Highly templated, concise, and portable, this revised edition helps you master the latest imaging methods used to evaluate retinal disease, uveitis, and optic nerve disorders. Helps all health professionals with an interest in OCT to better and more quickly interpret OCT imaging, offering quick, highly visual guidance for evaluating age-related macular degeneration, diabetic retinopathy, retinal vein occlusion, and much more. Provides quick answers with bulleted, templated chapters, each focused on one specific diagnosis or group of diagnoses with a particular OCT appearance. Demonstrates how the full spectrum of diseases presents through approximately 400 illustrations, including the highest-quality spectral-domain OCT images available and more than 50 new OCTA images. Includes five new chapters covering optic nerve disease with retinal findings, pachychoroid diseases, paracentral acute middle maculopathy (PAMM), auto-immune retinopathies, and primary uveal lymphoma. Offers clear visual guidance on image patterns with multiple arrows and labels throughout to highlight key details of each disease.

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.