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.

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.

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.

A lavishly illustrated guide to almost 200 inherited diseases of the skin, hair, and nails. Each entry includes synonyms, age of onset, clinical findings, complications, course, laboratory findings, diagnosis, therapy, and key references, adding up to far more than just a collection of photographs. In addition to being a clinical primer, this is also a work of scientific research and contains the first printed description of two new syndromes. The fast-moving world of genetic research means that the latest genetic correlations, included here, render previous texts out of date. All specialists in Dermatology and Pediatrics should find this an invaluable front-line resource in the clinic.

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.

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 term arthrogryposis describes a range of congenital contractures that lead to childhood deformities. It encompasses a number of syndromes and sporadic deformities that are rare individually but collectively are not uncommon. Yet, the existing medical literature on arthrogryposis is sparse and often confusing. The aim of this book is to provide individuals affected with arthrogryposis, their families, and health care professionals with a helpful guide to better understand the condition and its therapy. With this goal in mind, the editors have taken great care to ensure that the presentation of complex clinical information is at once scientifically accurate, patient oriented, and accessible to readers without a medical background. The book is authored primarily by members of the medical staff of the Arthrogryposis Clinic at Children's Hospital and Medical Center in Seattle, Washington, one of the leading teams in the management of the condition, and will be an invaluable resource for both health care professionals and families of affected individuals.

With almost twice as many chapters, this new edition of Pediatric Retina now includes important information on the development of the eye and retina, basic/translational science of retinal diseases in infants and children, telemedicine using wide-angle imaging for diagnosis and longitudinal management of infants and children, as well as international approaches to care with focus on retinopathy of prematurity.

OCT provided a great advantage over other diagnostic modalities, as it could noninvasively provide tomographic images of the retina of a living eye. As a result, a number of new findings in retinal diseases were made using the time-domain OCT. OCT has now become an essential medical equipment OCT has now become an essential medical equipment in ophthalmic care and quality textbooks describing the functionality of OCT are very important in the education of young ophthalmologists and eye care personnel. In this book are chosen high quality OCT images of rather common diseases as well as images of several rare diseases.