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.

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.

Choroidal Disorders provides an overview on various chorioretinal disorders with a special emphasis on choroidal imaging. As our understanding of the choroid has significantly improved with the development of advanced optical coherence tomography (OCT) and its role in posterior segment diseases is gaining new significance, this book focuses on the related improvements, diagnostic capabilities, management and prognosis of various chorioretinal disorders. It covers conventional techniques, such as ultrasonography and indocyanine green angiography as well as the most advanced techniques, including enhanced depth imaging OCT, swept source OCT, and OCT angiography. - Concise overview of various chorioretinal disorders, with special emphasis on choroidal imaging - Written for practitioners and researchers in sensory systems (vision), ophthalmologists, and retina specialists - Covers the most advanced imaging techniques in choroidal disorders, such as enhanced depth imaging OCT, swept source OCT, and OCT angiography

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.

This unique resource is a practical, easy-to-use guide for the non-ophthalmologist healthcare provider as they encounter patients with eye complaints and other concerning ophthalmic conditions. The Columbia Guide to Basic Elements of Eye Care is specifically designed with the non-ophthalmologist in mind, and provides a foundation of basic eye anatomy and physiology, functional analysis, pathology, and concepts in eye care. Each chapter delivers an accessible summary of various ophthalmic diseases and conditions, all of which are frequently encountered in everyday practice. These chapters provide in-depth discussions on a wide range of topics, from testing and examination procedures to management protocols, referral guidelines and expected frequency of follow-up for each disorder. Complete with hundreds of high-quality, descriptive illustrations and clinical photographs, The Columbia Guide to Basic Elements of Eye Care presents clear, understandable explanations of basic eye anatomy, physiology, disease and treatment for non-ophthalmic practitioners and students. In doing so, this guide provides a framework for determining the normal versus the abnormal, helping the reader recognize which patients require referral, and identify which conditions are developing, require urgent treatment, or can be routinely followed. Non-ophthalmologist healthcare providers and students alike will find this book, written by leaders in the field, a practical resource to consult as they encounter patients with treatable but potentially sight-threatening conditions.

​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.

Featuring over 250 illustrations, this detailed full-color textbook provides up-to-date information on the use of fundus autofluorescence imaging in evaluation of retinal disease. Chapters describe the techniques available to image and quantify fundus autofluorescence and the autofluorescence patterns observed in the healthy eye and in various retinal diseases. Emphasis is on the value of fundus autofluorescence as a diagnostic and prognostic tool and its clinical utility in the context of other imaging techniques, such as fluorescein and indocyanine green angiography and optical coherence tomography. Each chapter also discusses the value of fundus autofluorescence in understanding the pathogenesis of the condition, and provides a comprehensive update on all aspects of the condition. A companion Website will offer the fully searchable text and an image bank.

This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare diseases. The chapters are heavily illustrated and provide a good Atlas for the practicing ophthalmologist or geneticist.

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.

The long-awaited second edition of an authoritative reference on electrophysiologic vision testing, including detailed information on techniques and problems, basic physiology and anatomy, theoretical concepts, and clinical findings; with extensive new material. This authoritative text is the only comprehensive reference available on electrophysiologic vision testing, offering both practical information on techniques and problems as well as basic physiology and anatomy, theoretical concepts, and clinical correlations. The second edition, of the widely used text, offers extensive new material and updated information: 65 of the 84 chapters are completely new, with the changes reflecting recent advances in the field. The book will continue to be an essential resource for practitioners and scholars from a range of disciplines within vision science. The contributions not only cover new information—important material that is likely to become more important in the next decade—but also offer a long-range perspective on the field and its remarkable development in the last century. After discussing the history and background of clinical electrophysiology, the book introduces the anatomy of the retina and principles of cell biology in the visual pathways at the molecular, physiological, and biochemical levels. It relates these new findings to the techniques and interpretations of clinical tests, including the electro-oculogram (EOG), electroretinogram (ERG), and visual evoked potentials (VEP), which are discussed in detail, as are equipment, data acquisition and analysis, principles and protocols for clinical testing, diseases and dysfunction, and animal testing. Notable additions for this edition include chapters on the origin of electroretinogram waveforms, multifocal techniques, testing in standard laboratory animals, recent advances in analysis of abnormalities in disease, and the applications of these techniques to the study of genetic abnormalities.