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Genetic Diseases Of The Eye
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Book Synopsis Genetic Diseases of the Eye by : Elias I. Traboulsi
Download or read book Genetic Diseases of the Eye written by Elias I. Traboulsi and published by OUP USA. This book was released on 2012-01-12 with total page 940 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Ophthalmic Genetic Diseases by : Natario L. Couser
Download or read book Ophthalmic Genetic Diseases written by Natario L. Couser and published by . This book was released on 2018-09-24 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides current, clinically focused information on more than 400 genetic eye diseases.
Book Synopsis Genetics and Genomics of Eye Disease by : Xiaoyi Raymond Gao
Download or read book Genetics and Genomics of Eye Disease written by Xiaoyi Raymond Gao and published by Academic Press. This book was released on 2019-09-12 with total page 383 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Book Synopsis A Compendium of Inherited Disorders and the Eye by : Elias I. Traboulsi M.D.
Download or read book A Compendium of Inherited Disorders and the Eye written by Elias I. Traboulsi M.D. and published by Oxford University Press. This book was released on 2005-12-01 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: During the past two decades, our understanding of the molecular genetics of inherited eye diseases, their classification, and management has undergone a huge expansion as the field of human genetics has benefited from technological advances and increased interest by physicians and scientists in all fields. As a result, the amount of clinical and basic-science information on inherited systemic and eye diseases has become so large that general ophthalmologists, ophthalmic subspecialists, and physicians in other fields have found it difficult to keep up. This volume will act as a guide because it catalogues all the latest information about genetic diseases that involve the eye and presents it in a practical and accessible format. After an introductory chapter that reviews basic clinical and molecular-genetic principles, individual diseases and groups of diseases are listed alphabetically in order to make it as easy as possible to search for an entry. The material in each entry is a synthesis of numerous articles and reviews on the topic, accompanied by at least one high-quality illustration, at least one webpage of a patient support group or other organization related to the disease, and references that provide the original description of the disease, an excellent review, or useful illustrations. There is also a companion website containing electronic copies of all the illustrations to make it easy to use them in lectures. Health-care professionals who need immediate access to clinical and basic-science information on inherited systemic and eye diseases will find this volume indispensable.
Book Synopsis Ophthalmic Genetic Disease by : Natario L. Couser
Download or read book Ophthalmic Genetic Disease written by Natario L. Couser and published by Elsevier Health Sciences. This book was released on 2018-09-22 with total page 198 pages. Available in PDF, EPUB and Kindle. Book excerpt: Comprehensive yet concise, Ophthalmic Genetic Diseases: A Quick Reference Guide to the Eye and External Ocular Adnexa Abnormalities, by Dr. Natario L. Couser, provides current, clinically focused information on more than 400 genetic eye diseases. This first-of-its-kind title is a useful resource for busy medical students, residents, or fellows, and is a handy quick reference for practicing ophthalmologists, geneticists, genetic counselors, pediatricians, optometrists, and other healthcare professionals who evaluate and manage patients with genetic eye diseases. Groups genetic abnormalities by anatomical location most often affected for easy reference. Synthesizes complex genetic data and research into digestible and practical guidance for understanding the genetic aspects of eye disease. Presents relevant clinical information in a concise and organized manner to help you make a diagnosis or assist in guiding referrals. Includes an appendix covering genetic eye disorders by clinical sign. Consolidates today’s available information and guidance into a single, convenient resource.
Book Synopsis Atlas of Inherited Retinal Diseases by : Stephen H. Tsang
Download or read book Atlas of Inherited Retinal Diseases written by Stephen H. Tsang and published by Springer. This book was released on 2018-12-21 with total page 274 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Retinal Degenerative Diseases by : Matthew M. LaVail
Download or read book Retinal Degenerative Diseases written by Matthew M. LaVail and published by Springer Science & Business Media. This book was released on 2011-12-21 with total page 867 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Inherited Eye Diseases by : Saul Merin
Download or read book Inherited Eye Diseases written by Saul Merin and published by . This book was released on 2005 with total page 798 pages. Available in PDF, EPUB and Kindle. Book excerpt: Covering the entire spectrum of inherited eye diseases, including retinal degenerative disorders that lead to vision loss, this guide devotes entire chapters to specific diseases such as glaucoma and strabismus-offering clinical descriptions, laboratory tests, methods to confirm diagnoses, and insights into disease pathology, epidemiology, and genetics; studies recently identified genes and the identification and management of new eye disorders; reviews the clinical evaluation, prognostic assessment, and management of inherited eye diseases; and presents chapters according to the affected tissue or disease entity-serving as a quick and easily-accessible guide for busy practitioners and optometrists.
Book Synopsis Recent Advances In Retinal Degeneration by : Robert E. Anderson
Download or read book Recent Advances In Retinal Degeneration written by Robert E. Anderson and published by Springer Science & Business Media. This book was released on 2007-12-03 with total page 424 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Genetics of Ocular Diseases by : H. V. Nema
Download or read book Genetics of Ocular Diseases written by H. V. Nema and published by Springer Nature. This book was released on 2022-03-11 with total page 210 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book focuses on describing the importance of genetics in eye diseases in a comprehensive and concise manner. Mutations in different set of genes have been detected and incriminated in complex mechanisms of causing leading eye diseases such as cataract and glaucoma. This book written by well-established ophthalmologists and geneticists presents a complicated subject in simple and easy to understand manner. Chapters cover the concept of gene therapy which is an emerging subject with high potential. The book includes a separate chapter on genetic counseling, which has become an integral component of ophthalmology. The book will assist the practicing ophthalmologists in early diagnosis of genetic eye diseases as well as help the geneticists in understaning the basic concepts. It will also be useful for students who are preparing for MD, MS, DNB and FRCS examinations.
Book Synopsis Genetics in Ophthalmology by : B. Wissinger
Download or read book Genetics in Ophthalmology written by B. Wissinger and published by Karger Medical and Scientific Publishers. This book was released on 2003-01-01 with total page 230 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Genetic Mutations Associated with Ocular Diseases by : Minzhong Yu
Download or read book Genetic Mutations Associated with Ocular Diseases written by Minzhong Yu and published by Frontiers Media SA. This book was released on 2022-02-04 with total page 212 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Wills Eye Handbook of Ocular Genetics by : Alex V. Levin
Download or read book Wills Eye Handbook of Ocular Genetics written by Alex V. Levin and published by Thieme. This book was released on 2016-10-01 with total page 458 pages. Available in PDF, EPUB and Kindle. Book excerpt: Highly Commended by the BMA Medical Book Awards for Surgical Specialties! Many serious, potentially blinding eye disorders have a genetic basis. Currently, there are relatively few ocular geneticists in the world, yet inherited eye disease is one of the leading causes of blindness worldwide. Significant strides have been made in gene identification and acquisition of knowledge on the underlying mechanisms of hereditary eye disease. The field of ocular genetics is becoming an increasingly relevant part of ophthalmologists' purview. This has resulted in a dire need for a comprehensive textbook ophthalmologists and other professionals who work with patients with genetic disorders can utilize to gain a better understanding of inherited eye disorders. The Wills Eye Handbook of Ocular Genetics, by Alex Levin, Mario Zanolli, and Jenina Capasso of Wills Eye Hospital, is a practical, reader-friendly guide on the diagnosis and management of ophthalmic genetic conditions. Every chapter begins with a disease overview, followed by relevant modern genetic concepts, pathways to attaining the correct diagnosis, and pitfalls and pearls gleaned from years of hands-on expertise. At the end of each chapter, questions and answers enable readers to test their knowledge in real-life scenarios they might face in everyday practice. The ultimate goal of this clinically robust handbook is to facilitate optimal patient management and outcomes. Key Features Fundamentals, including basic genetics, inheritance patterns, genetic testing, and ethical issues Patient-centered genetic counseling issues such as reproduction, dealing with emotional reactions, prognosis, and future options Anterior segment disorders - from corneal dystrophies and aniridia - to childhood cataract and microphthalmia A broad spectrum of vitreoretinopathies and retinal diseases including incontinentia pigmenti, retinitis pigmentosa, Bardet-Biedl syndrome, choroideremia, Stargardt disease, achromatopsia, and juvenile X-linked retinoschisis This textbook is essential reading for practitioners at all levels and in all subspecialties including ophthalmology and genetics. They will find it an excellent resource for navigating the complexities of genetic eye disease.
Book Synopsis Atlas of X-Linked Intellectual Disability Syndromes by : Roger E. Stevenson
Download or read book Atlas of X-Linked Intellectual Disability Syndromes written by Roger E. Stevenson and published by Oxford University Press. This book was released on 2012-07-12 with total page 363 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Molecular Genetics of Inherited Eye Disorders by : Alan F. Wright
Download or read book Molecular Genetics of Inherited Eye Disorders written by Alan F. Wright and published by CRC Press. This book was released on 1994-12-01 with total page 554 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular Genetics of Inherited Eye Disorders provides an authoritative and up-to-date account of molecular genetic advances in a wide spectrum of genetic eye disorders, and forms the second volume in the Modern Genetics book series. The field has produced some dramatic and often unexpected findings in recent years ranging from the elegant unravelling of the molecular basis of colour vision defects to the subtle complexity of the retinoblastoma gene. The role of crystallins in congenital cataract and of the rhodopsin molecule in retinitis pigmentosa are discussed, illustrating the importance of the candidate gene approach to genetic eye disease. Reverse genetic approaches to the cloning of genes responsible for aniridia and choroideremia exemplify the power of the new genetic techniques and signal the start of the next experimental phase, in which the functional characterization of identified genes begins.
Book Synopsis Inherited Eye Diseases by : Saul Merin
Download or read book Inherited Eye Diseases written by Saul Merin and published by CRC Press. This book was released on 1991-03-29 with total page 528 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Book Synopsis Control of Canine Genetic Diseases by : George A. Padgett
Download or read book Control of Canine Genetic Diseases written by George A. Padgett and published by Turner Publishing Company. This book was released on 2008-05-05 with total page 266 pages. Available in PDF, EPUB and Kindle. Book excerpt: If you breed dogs for any reason, you must own this book. Genetic diseases are among the most serious hazards on the landscape of modern dog breeding and one of the most vexing challenges facing today's dog breeders. Is it appropriate to open the gene pool to unwanted conditions in the pursuit of physical perfection, or must breeding to the Standard take a back seat to producing healthy animals? In Control of Canine Genetic Diseases, renowned authority George A. Padgett, DVM, provides an expert road map to help dog breeders everywhere avoid the pitfalls they are almost destined to encounter. For anyone whose goal is to produce healthy, functional and beautiful dogs, this is the book they need. Dr. Padgett provides clear explanations of modes of inheritance, how to conduct and analyze test matings and how to lower the chances of producing affected animals. Numerous tables, diagrams and graphs further enhance the text to facilitate the breeder's understanding. A Howell Dog Book of Distinction
