Download or read book Retinal Dystrophy Gene Atlas written by Sarwar Zahid and published by Springer. This book was released on 2018-06-25 with total page 250 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Atlas of Inherited Retinal Diseases written by Stephen H. Tsang and published by Springer. This book was released on 2018-12-21 with total page 274 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Retinal Dystrophies written by Gregory R. Bock and published by John Wiley & Sons. This book was released on 2004-04-02 with total page 226 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book The Retinal Atlas E Book written by Lawrence A. Yannuzzi and published by Elsevier Health Sciences. This book was released on 2010-06-01 with total page 929 pages. Available in PDF, EPUB and Kindle. Book excerpt: 2010 PROSE Awards Winner, Clinical Medicine! Dr. Lawrence A. Yannuzzi brings together the most complete retinal atlas ever. Over 5,000 illustrations of the latest imaging and research findings essential for effective diagnosis of retinal disorders populate The Retinal Atlas. A unique 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. The Atlas is the ideal resource for all retinal specialists, comprehensive ophthalmologists, and other eye care personnel. • Features complete, comprehensive coverage of all vitreous, retina, and macula diseases, assimilating old and new photos for effective diagnosis at early and later stages of each disorder. • Covers all new imaging methods used to present and illustrate retinal diseases, including the latest on ophthalmic coherence tomography, indocyanine green angiography, fluorescein angiography, and fundus autofluorescence, keeping you up to date with new, developing, and cutting edge imaging techniques to match evolving diagnosis and treatment methods. • Incorporates arrows and guides into the images that point to key lesions for a more accurate identification of disorders. • Provides a unique design using composite layouts that incorporate various forms of disease presentation, including high-power views and the latest panoramic photos, offering an enhanced understanding of the full spectrum of disorders. • Offers concise coverage of key histopathology findings, providing an improved understanding of the clinico-pathological relationships and selected references for additional readings. • Presents a select team of industry experts, all of whom are true international leaders in their sub-specialty areas, and have assisted in contributing to the diverse library of common and rare case photos.
Download or read book The Retinal Atlas E Book written by K. Bailey Freund and published by Elsevier Health Sciences. This book was released on 2016-11-14 with total page 928 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Inherited Chorioretinal Dystrophies written by Bernard Puech and published by Springer. This book was released on 2014-07-19 with total page 501 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Inherited Retinal Disease written by Hyeong-Gon Yu and published by Springer Nature. This book was released on 2022-03-11 with total page 237 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Hereditary Chorioretinal Disorders written by Gemmy Cheung and published by Springer Nature. This book was released on 2020-01-29 with total page 152 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume of the retina atlas focuses on hereditary chorioretinal disorders. The topics covered include retinitis pigmentosa, Best disease, congenital X-linked retinoschisis, cone dystrophy, Stargardt’s disease, pattern dystrophy, North Carolina macular dystrophy, choroideremia, Mallattia Leventinese, Bietti’s crystalline dystrophy, and albinism. All clinical features are clearly illustrated with multimodal imaging techniques. The utility of some of the latest imaging tools such as OCT angiography, adaptive optics-scanning laser ophthalmoscopy, and microperimetery is discussed. Readers will gain valuable new insights into pathogenesis at the molecular level, which have been facilitated by recent genetic discoveries. The use of genetic testing and the latest advances in and challenges of gene therapy and cell-based therapy are also covered in detail. Hereditary Chorioretinal Disorders atlas is one of nine volumes in the series Retina Atlas. The series provides validated and comprehensive information on vitreoretinal diseases, covering imaging basics, retinal vascular diseases, macular disorders, ocular inflammatory and infectious disorders, retinal degeneration, the surgical retina, ocular oncology, pediatric retina and trauma.
Download or read book Practical Atlas of Retinal Disease and Therapy written by William R. Freeman and published by Lippincott Williams & Wilkins. This book was released on 1993 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: Contains over 600 colour retinal photographs and text to enable clinicians to diagnose specific disease entitites and determine the most appropriate medical or surgical therapy. The most common diseases are grouped into 18 chapters and there are reviews of the key isues and major pifalls.
Download or read book Atlas of Fundus Autofluorescence Imaging written by Frank G. Holz and published by Springer Science & Business Media. This book was released on 2007-09-04 with total page 334 pages. Available in PDF, EPUB and Kindle. Book excerpt: This lavishly illustrated unique atlas provides a comprehensive and up-to-date overview of FAF imaging in retinal diseases. It also compares FAF findings with other imaging techniques such as fundus photograph, fluorescein- and ICG angiography as well as optical coherence tomography. General ophthalmologists as well as retina specialists will find this a very useful guide which illustrates typical FAF characteristics of various retinal diseases.
Download or read book Diagnostic Atlas of Retinal Diseases written by Mitzy E. Torres Soriano and published by Bentham Science Publishers. This book was released on 2017-04-12 with total page 274 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Atlas of Genodermatoses written by Ruggero Caputo and published by CRC Press. This book was released on 2005-12-12 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genetic Diseases of the Eye written by Elias I. Traboulsi and published by OUP USA. This book was released on 2012-01-12 with total page 940 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Atlas of X Linked Intellectual Disability Syndromes written by Roger E. Stevenson and published by Oxford University Press. This book was released on 2012-07-12 with total page 363 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Pediatric Retina written by Mary Elizabeth Hartnett and published by Lippincott Williams & Wilkins. This book was released on 2013-09-05 with total page 57 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Arthrogryposis written by Lynn T. Staheli and published by Cambridge University Press. This book was released on 1998-04-28 with total page 302 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book OCT Atlas written by Nagahisa Yoshimura and published by Springer. This book was released on 2014-06-24 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
