Hereditary Retinopathies
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| Author | : Pete Humphries |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 52 |
| Release | : 2012-08-07 |
| Genre | : Medical |
| ISBN | : 1461444993 |
The hereditary retinopathy, retinitis pigmentosa (RP), which affects 1 in 3,500 people worldwide, is the most common cause of registered visual handicap among those of the working age in developed countries. RP is a highly variable disorder where patients may develop symptomatic visual loss in early childhood, while others may remain asymptomatic until mid-adulthood. Most cases of RP segregate in autosomal dominant, recessive or X-linked recessive modes, with approximately 41 genes being implicated in disease pathology to date (RetNet). The extensive genetic heterogeneity associated with autosomal dominant RP (adRP) is an undisputed hindrance to the development of genetically based therapeutics.
| 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 | : Juan M. Jiménez-Sierra |
| Publisher | : |
| Total Pages | : 312 |
| Release | : 1989 |
| Genre | : Medical |
| ISBN | : |
| Author | : Peter Humphries |
| Publisher | : CRC Press |
| Total Pages | : 202 |
| Release | : 1991-05-06 |
| Genre | : Medical |
| ISBN | : 9780849301872 |
This book represents the proceedings of the Sixth World Congress of the International Retinitis Pigmentosa Association (IRPA), Dublin, Ireland, July 20-22, 1990. It is intended for all research workers and ophthalmologists interested in the etiologies and diagnosis of inherited degenerative retinopathies. The book contains 22 original papers, many of which are genetically oriented. The genetic focus is due to the fact that highly significant progress in genetic research has been made over the last few years. Topics addressed in the book include proteins of the visual transduction cycle and their effect in the etiologies of RP, identification of more mutations, and new technologies for genetic analysis. The new technologies, in particular, will interest specialists in molecular genetics and researchers seeking information about more clinical applications and the implications of research of inherited retinopathies.
| Author | : Robert E. Anderson |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 422 |
| Release | : 2007-12-03 |
| Genre | : Medical |
| ISBN | : 0387749047 |
The product of perhaps the most important research meeting in the field, this essential text outlines all the latest research in retinal degeneration. Culled from the proceedings of the International Symposium on the subject, the topics in this volume explore the etiology, cellular mechanisms, epidemiology, models and potential therapeutic measures for the blinding diseases of retinitis pigmentosa and age-related macular degeneration. A must-read for researchers in the field.
| 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 | : 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 | : Camiel J.F. Boon |
| Publisher | : Humana Press |
| Total Pages | : 380 |
| Release | : 2017-11-29 |
| Genre | : Medical |
| ISBN | : 9781493975211 |
This detailed volume describes a spectrum of methods and protocols that can be used for the bench-to-bedside development and evaluation of retinal gene therapy. Methods for the successful delivery of these gene therapy vector systems to the retina are examined, as well as assays to test the efficacy in vitro in cell cultures, for gene augmentation and gene editing in vivo on rodents, pigs, and monkey retinas, and on human retinal explants as well as in human clinical studies. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Retinal Gene Therapy: Methods and Protocols provides a wide range of readers from students to research experts with vital information on ocular gene therapy vector technology, in vitro and in vivo biological assays, and clinical protocols, to promote further studies for the benefit of children and adults with inherited retinal disease.
| 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 | : Wei-Chi Wu |
| Publisher | : Springer Nature |
| Total Pages | : 302 |
| Release | : 2021-01-18 |
| Genre | : Medical |
| ISBN | : 981156552X |
This book is intended to provide a quick guide to the field of pediatric retina. It has been long accepted that retinal disorders in children differ from those in adults. Although there are plenty of published books on retinal diseases, most of them only cover adult retinal disorders. Therefore, information on pediatric retinal diseases is urgently needed. The book combines comprehensive information with rich illustrations to offer readers an in-depth understanding of the two main themes: retinopathy of prematurity (ROP) and other pediatric vitreoretinal disorders. World-renowned pediatric retina experts share their insights and research findings in areas such as ROP, familiar exudative vitreoretinopathy, Coats disease, retinoblastoma, congenital x-linked retinoschisis and hereditary retinal diseases. Topics concerning modern and future medicine such as tele-screening for ROP, E-learning for ROP, and deep learning for ROP are also included. Designed to help readers understand the contents as quickly as possible, the book includes many useful tips and pearls, as well as easy-to-follow figures. It covers the majority of pediatric retinal diseases and offers essential information on their diagnosis and management. In addition, relevant and up-to-date references are provided for those who want to explore the topics in more depth. As such, the book offers an excellent reference guide to caring for these young patients.
