Ophthalmic Genetic Diseases
Author: Natario L. Couser
Publisher:
Published: 2018-09-24
Total Pages: 0
ISBN-13: 9780323654142
DOWNLOAD EBOOKThis book provides current, clinically focused information on more than 400 genetic eye diseases.
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Clinical Ophthalmic Genetics and Genomics
Author: Graeme C.M. Black
Publisher: Elsevier
Published: 2022-01-20
Total Pages: 490
ISBN-13: 0128139447
DOWNLOAD EBOOKPractical Genomics for Clinical Ophthalmology provides in-depth coverage of the clinical applications of genomics in eye disease, with a key emphasis on case-study based instruction in patient care and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways. The book presents the latest information on genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics, with specific chapters covering non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, developmental eye abnormalities, nystagmus, ocular motility disorders, optic neuropathies, phacomatoses, and retinoblastoma, and more. In addition, clinical case studies illustrate examples of common genetic eye disorders and highlight vital learning points for the reader. Presents the work of leading international researchers and clinicians who speak in-depth on the clinical applications of genomics in diagnosis and treatment of eye disease Provides full-color, richly illustrated chapters that cover current genetic and genomic testing methods employed in ophthalmology Includes instructions on the diagnosis and treatment of a wide range of conditions, including non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, and more Contains case studies that illustrate common genetic eye disorders and highlight vital learning points for the reader
Genetic Diseases of the Eye
Author: Elias I. Traboulsi
Publisher: OUP USA
Published: 2012-01-12
Total Pages: 940
ISBN-13: 0195326148
DOWNLOAD EBOOKThis 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.
Genetics and Genomics of Eye Disease
Author: Xiaoyi Raymond Gao
Publisher: Academic Press
Published: 2019-09-12
Total Pages: 386
ISBN-13: 0128167270
DOWNLOAD EBOOKGenetics 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
Genetics in Ophthalmology
Author: B. Wissinger
Publisher: Karger Medical and Scientific Publishers
Published: 2003-01-01
Total Pages: 230
ISBN-13: 3805575785
DOWNLOAD EBOOKThe objective of this publication is to enhance mutual understanding and communication between ophthalmologists, molecular geneticists, genetic counselors and biomedical researchers. In the introductory chapter, current genetic paradigms and experimental genetic approaches relevant to the nature of hereditary disorders are discussed. The following contribution on the epidemiology of hereditary ocular disorders provides an excellent reference to geneticists as well as clinicians. Myopia is presented as an example of a complex clinical phenotype where genes and environment interact. Further molecular ophthalmogenetic topics, such as corneal dystrophies, cataract, glaucoma, opticus neuropathy, non-syndromic and syndromic pigmentary retinopathies, defects of vitamin A metabolism and macular dystrophies including age-related macular degeneration, are investigated in depth. The volume concludes with a survey of color vision deficiencies, a discussion of animal models and gene therapy, and a useful description of technical devices supporting patients who are losing sight.
Retinal Degenerative Diseases
Author: Matthew M. LaVail
Publisher: Springer Science & Business Media
Published: 2011-12-21
Total Pages: 867
ISBN-13: 1461406315
DOWNLOAD EBOOKThis 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.
Veterinary Ocular Pathology
Author: Richard R. Dubielzig
Publisher: Elsevier Health Sciences
Published: 2010-05-04
Total Pages: 467
ISBN-13: 0702044423
DOWNLOAD EBOOKVeterinary Ocular Pathology: A Comparative Review links the clinical features of ocular disease with gross and microscopic pathology to demonstrate the essential features observable during diagnosis. It is designed to be kept next to the microscope as an invaluable guide to accurate diagnosis in ocular pathology. The book presents a wide range of images of the highest quality. A unique and distinctive feature is the juxtaposition of clinical and pathological images while offering detailed enumeration of the diagnostic features. Expert comparative comments by Dr Daniel Albert and contextual information on relative incidence are provided throughout. The authors address spontaneous disease of the eye in all animal species, with a particular emphasis on companion species. In addition, specific, common or interesting conditions of exotic species are included. - The first text devoted to the pathology of spontaneous diseases of the eyes and periocular tissues of domestic animal species - Exceptionally high quality illustrations are presented throughout, demonstrating clinical features, gross pathology and histopathology - Written by pathologists and clinicians - Includes a chapter devoted to the pathology of conditions associated with glaucoma in domestic animals A convenient, comprehensive and easy-to-use reference for veterinary pathologists, veterinary ophthalmologists, students and comparative vision scientists. - The first text devoted to the pathology of spontaneous diseases of the eyes and periocular tissues of domestic animal species - Exceptionally high quality illustrations are presented throughout, demonstrating clinical features, gross pathology and histopathology - Written by pathologists and clinicians - Includes a chapter devoted to the pathology of conditions associated with glaucoma in domestic animals
Atlas of X-Linked Intellectual Disability Syndromes
Author: Roger E. Stevenson
Publisher: Oxford University Press
Published: 2012-07-12
Total Pages: 363
ISBN-13: 0199811792
DOWNLOAD EBOOKThe 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.
Recent Advances In Retinal Degeneration
Author: Robert E. Anderson
Publisher: Springer Science & Business Media
Published: 2007-12-03
Total Pages: 422
ISBN-13: 0387749047
DOWNLOAD EBOOKThe 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.
Epidemiology Of Eye Disease, The (Third Edition)
Author: Gordon J Johnson
Publisher: World Scientific
Published: 2012-03-13
Total Pages: 686
ISBN-13: 1911299514
DOWNLOAD EBOOKThis unique book is a comprehensive coverage of the epidemiology of the world's major blinding eye diseases, written by internationally acclaimed experts in each field. Edited by world-renowned epidemiologists and ophthalmologists, the chapters on each leading cause of blindness describe its biology, epidemiology, risk factors, clinical trials, possibilities for prevention, and new research avenues. New chapters include Research Synthesis, Epidemiology of Dry Eye Disease, and Epidemiology of Uveitis, as well as programme issues for reaching the goal of eliminating avoidable blindness by 2020.This book is essential for any eye care practitioner interested in the causation or prevention of disease, and should be part of any public health discipline's library with a focus on improving eye health worldwide.
