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 | : 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 | : 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 | : 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 | : Jay Chhablani |
| Publisher | : Academic Press |
| Total Pages | : 474 |
| Release | : 2017-05-31 |
| Genre | : Science |
| ISBN | : 0128092238 |
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
| Author | : Cynthia A. Toth |
| Publisher | : Elsevier Health Sciences |
| Total Pages | : 371 |
| Release | : 2019-05-04 |
| Genre | : Medical |
| ISBN | : 0323609856 |
Optical Coherence Tomography (OCT) plays a vital role in pediatric retina diagnosis, often revealing unrecognized retinal disorders and connections to brain injury, disease, and delayed neurodevelopment. Handbook of Pediatric Retinal OCT and the Eye-Brain Connection provides authoritative, up-to-date guidance in this promising area, showing how to optimize imaging in young children and infants, how to accurately interpret these images, and how to identify links between these images and brain and developmental disorders. - Illustrates optimal methods of OCT imaging of children and infants, how to avoid pitfalls, and how to recognize and avoid artifacts - Explains how the OCT image may relate to brain disease and delayed neurodevelopment - Features more than 200 high-quality images and scans that depict the full range of disease in infants and young children - Provides guidance in identifying retinal layers and important abnormalities. - Covers the structural features of the retina and optic nerve head in developmental, acquired, or inherited conditions that affect the eye and visual pathways - Offers practical ways to set up imaging programs in the clinic, operating room, or neonatal nursery
| 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 | : Giuseppe Querques |
| Publisher | : Springer |
| Total Pages | : 128 |
| Release | : 2016-02-15 |
| Genre | : Medical |
| ISBN | : 3319266217 |
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.
| 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 | : Steffen Heegaard |
| Publisher | : Springer |
| Total Pages | : 742 |
| Release | : 2014-11-10 |
| Genre | : Medical |
| ISBN | : 3662433826 |
This book is a comprehensive, in-depth, and up-to-date resource on eye pathology that will be of great practical value for ophthalmic and general pathologists and ophthalmologists. Congenital abnormalities, inflammatory conditions, infections, injuries, degenerative diseases, and tumors are all covered with the aid of more than 700 images. In the case of tumors, the wide variety of neoplasms that occur in the eyelid, conjunctiva, retina, uveal tract, lacrimal gland and sac, orbit, and optic nerve are comprehensively reviewed, and the most recent knowledge on the relation between genetics and prognosis is presented. Entries on specific diseases are organized in a standard way, with information on etiology, epidemiology, clinical presentation, pathological characteristics, differential diagnosis, therapy, and prognosis. The authors are all recognized experts and members of the European and American ophthalmic pathology societies.
