Clinical Ophthalmic Genetics and Genomics

Clinical Ophthalmic Genetics and Genomics

Author: Graeme C.M. Black

Publisher: Elsevier

Published: 2022-01-20

Total Pages: 490

ISBN-13: 0128139447

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Practical 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


Ophthalmic Genetic Diseases

Ophthalmic Genetic Diseases

Author: Natario L. Couser

Publisher:

Published: 2018-09-24

Total Pages: 0

ISBN-13: 9780323654142

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This book provides current, clinically focused information on more than 400 genetic eye diseases.


Genetics and Genomics of Eye Disease

Genetics and Genomics of Eye Disease

Author: Xiaoyi Raymond Gao

Publisher: Academic Press

Published: 2019-09-12

Total Pages: 386

ISBN-13: 0128167270

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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


Genetic Diseases of the Eye

Genetic Diseases of the Eye

Author: Elias I. Traboulsi

Publisher: OUP USA

Published: 2012-01-12

Total Pages: 940

ISBN-13: 0195326148

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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.


Genetics in Ophthalmology

Genetics in Ophthalmology

Author: B. Wissinger

Publisher: Karger Medical and Scientific Publishers

Published: 2003-01-01

Total Pages: 230

ISBN-13: 3805575785

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The 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

Retinal Degenerative Diseases

Author: Matthew M. LaVail

Publisher: Springer Science & Business Media

Published: 2011-12-21

Total Pages: 867

ISBN-13: 1461406315

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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.


Making Eye Health a Population Health Imperative

Making Eye Health a Population Health Imperative

Author: National Academies of Sciences, Engineering, and Medicine

Publisher: National Academies Press

Published: 2017-01-15

Total Pages: 587

ISBN-13: 0309439981

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The ability to see deeply affects how human beings perceive and interpret the world around them. For most people, eyesight is part of everyday communication, social activities, educational and professional pursuits, the care of others, and the maintenance of personal health, independence, and mobility. Functioning eyes and vision system can reduce an adult's risk of chronic health conditions, death, falls and injuries, social isolation, depression, and other psychological problems. In children, properly maintained eye and vision health contributes to a child's social development, academic achievement, and better health across the lifespan. The public generally recognizes its reliance on sight and fears its loss, but emphasis on eye and vision health, in general, has not been integrated into daily life to the same extent as other health promotion activities, such as teeth brushing; hand washing; physical and mental exercise; and various injury prevention behaviors. A larger population health approach is needed to engage a wide range of stakeholders in coordinated efforts that can sustain the scope of behavior change. The shaping of socioeconomic environments can eventually lead to new social norms that promote eye and vision health. Making Eye Health a Population Health Imperative: Vision for Tomorrow proposes a new population-centered framework to guide action and coordination among various, and sometimes competing, stakeholders in pursuit of improved eye and vision health and health equity in the United States. Building on the momentum of previous public health efforts, this report also introduces a model for action that highlights different levels of prevention activities across a range of stakeholders and provides specific examples of how population health strategies can be translated into cohesive areas for action at federal, state, and local levels.


Recent Advances In Retinal Degeneration

Recent Advances In Retinal Degeneration

Author: Robert E. Anderson

Publisher: Springer Science & Business Media

Published: 2007-12-03

Total Pages: 422

ISBN-13: 0387749047

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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.


Atlas of X-Linked Intellectual Disability Syndromes

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

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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.


Epidemiology Of Eye Disease, The (Third Edition)

Epidemiology Of Eye Disease, The (Third Edition)

Author: Gordon J Johnson

Publisher: World Scientific

Published: 2012-03-13

Total Pages: 686

ISBN-13: 1911299514

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This 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.