Inherited Retinal Diseases
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| Author | : Stephen H. Tsang |
| Publisher | : Springer |
| Total Pages | : 262 |
| Release | : 2018-12-21 |
| Genre | : Medical |
| ISBN | : 3319950460 |
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.
| Author | : Hyeong-Gon Yu |
| Publisher | : Springer Nature |
| Total Pages | : 237 |
| Release | : 2022-03-11 |
| Genre | : Medical |
| ISBN | : 9811673373 |
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.
| Author | : Matthew M. LaVail |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 867 |
| Release | : 2011-12-21 |
| Genre | : Medical |
| ISBN | : 1461406315 |
This book will contain the proceedings of the XIV International Symposium on Retinal Degeneration (RD2010), held July 13-17, 2010, in Mont-Tremblant, Quebec, Canada. The volume will present representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy.
| Author | : Astha Jain |
| Publisher | : |
| Total Pages | : |
| Release | : 2021 |
| Genre | : Electronic books |
| ISBN | : 9789813341708 |
This book covers the entire range of vitreoretinal surgeries. The first section covers essential information about the anatomy and the appropriate diagnostic techniques which helps in preoperative evaluation. The second section is on surgical instrumentation, and includes adjuncts used in VR surgery. Advanced instrumentation such as 3D visualization system, endoscopic vitrectomy and robotic surgeries are well described in the chapters. The later sections deal with the surgical technique for different disease entities. Management of posterior segment complication of anterior segment surgeries such as cataract and keratoprosthesis are reviewed in detail. A section on gene therapy has been incorporated. This book will help the reader to gather a detailed round-up of basics of and advances made in the field of vitreoretinal surgery. It is supplemented with videos. This book is meant for practicing retinal surgeons, those in training as well as students with interest in vitreoretinal surgery.
| Author | : Bernard Puech |
| Publisher | : Springer |
| Total Pages | : 501 |
| Release | : 2014-07-19 |
| Genre | : Medical |
| ISBN | : 3540694668 |
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.
| Author | : Elias I. Traboulsi |
| Publisher | : OUP USA |
| Total Pages | : 940 |
| Release | : 2012-01-12 |
| Genre | : Medical |
| ISBN | : 0195326148 |
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.
| Author | : Frank G Holz |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 232 |
| Release | : 2010-03-18 |
| Genre | : Medical |
| ISBN | : 3540855408 |
Recent advances in ophthalmic imaging technology have revolutionized fundus examination and contributed significantly in elucidating the pathophysiology of retinal diseases and improving their diagnosis and treatment. It is therefore fitting that this detailed full-color textbook in the Medical Retina series is devoted to ocular imaging. The volume reviews in detail the role of both established and novel forms of imaging, and is designed to be of benefit to clinicians and researchers alike. All of the chapters have been written by internationally recognized experts at the forefront of their fields. The result is a comprehensive, state-of-the-art overview of retinal imaging that should prove informative and useful for everyone interested in the retina. Topics include: •Spectral domain optical coherence tomography (SD-OCT) of macular diseases •Comparison of OCT equipment •Simultaneous SD-OCT and confocal SLO imaging •Ultra-widefield imaging °Autofluorescence imaging •Near-infrared imaging •Macular pigment imaging •Metabolic mapping •Imaging of the choroid •Imaging the vitreous and the vitreoretinal interface with SD-OCT •New developments in OCT technology •Molecular imaging
| Author | : Xiaoyi Raymond Gao |
| Publisher | : Academic Press |
| Total Pages | : 386 |
| Release | : 2019-09-12 |
| Genre | : Science |
| ISBN | : 0128167270 |
Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research. - Offers thorough guidance on conducting genetic and genomic studies of eye disease - Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders - Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling
| Author | : Saul Merin |
| Publisher | : CRC Press |
| Total Pages | : 528 |
| Release | : 1991-03-29 |
| Genre | : Medical |
| ISBN | : 9780824774103 |
A standard textbook of the practicing ophthalmologist and the resident-in-training to consult when dealing with an inherited eye disease, enabling them to find the most likely diagnosis within the context of the various types and subtypes of genetic diseases, to obtain an in-depth understanding of t
| Author | : Mitzy E. Torres Soriano |
| Publisher | : Bentham Science Publishers |
| Total Pages | : 274 |
| Release | : 2017-04-12 |
| Genre | : Medical |
| ISBN | : 1681084155 |
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.
