Inherited Eye Diseases PDF Download
Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download Inherited Eye Diseases PDF full book. Access full book title Inherited Eye Diseases by Saul Merin. Download full books in PDF and EPUB format.
Author: Saul Merin
Publisher: CRC Press
ISBN: 9780824774103
Category : Medical
Languages : en
Pages : 528
Get Book Here
Book Description
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: Xiaoyi Raymond Gao
Publisher: Academic Press
ISBN: 0128167270
Category : Science
Languages : en
Pages : 386
Get Book Here
Book Description
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
ISBN: 9780824774103
Category : Medical
Languages : en
Pages : 528
Get Book Here
Book Description
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: Stephen H. Tsang
Publisher: Springer
ISBN: 3319950460
Category : Medical
Languages : en
Pages : 262
Get Book Here
Book Description
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: Elias I. Traboulsi
Publisher: OUP USA
ISBN: 0195326148
Category : Medical
Languages : en
Pages : 940
Get Book Here
Book Description
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: Natario L. Couser
Publisher:
ISBN: 9780323654142
Category : Medical
Languages : en
Pages : 0
Get Book Here
Book Description
This book provides current, clinically focused information on more than 400 genetic eye diseases.
Author: Matthew M. LaVail
Publisher: Springer Science & Business Media
ISBN: 1461406315
Category : Medical
Languages : en
Pages : 867
Get Book Here
Book Description
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: B. Wissinger
Publisher: Karger Medical and Scientific Publishers
ISBN: 3805575785
Category : Medical
Languages : en
Pages : 230
Get Book Here
Book Description
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.
Author: Robert E. Anderson
Publisher: Springer Science & Business Media
ISBN: 0387749047
Category : Medical
Languages : en
Pages : 422
Get Book Here
Book Description
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: Roger E. Stevenson
Publisher: Oxford University Press
ISBN: 0199811792
Category : Medical
Languages : en
Pages : 363
Get Book Here
Book Description
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.
Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
ISBN: 0309439981
Category : Medical
Languages : en
Pages : 587
Get Book Here
Book Description
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.
