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Author: Elias I. Traboulsi M.D. Publisher: Oxford University Press ISBN: 0190291060 Category : Medical Languages : en Pages : 272
Book Description
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.
Author: Elias I. Traboulsi M.D. Publisher: Oxford University Press ISBN: 0190291060 Category : Medical Languages : en Pages : 272
Book Description
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.
Author: Xiaoyi Raymond Gao Publisher: Academic Press ISBN: 0128167270 Category : Science Languages : en Pages : 383
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: Elias I. Traboulsi, MD Publisher: Oxford University Press ISBN: 0199716978 Category : Medical Languages : en Pages : 940
Book Description
This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic resource on genetic diseases of the eye. This richly illustrated title covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. The new edition remains grounded in a sound clinical approach to the patient with a genetic disease that affects the eye. Oxford Genetics is a comprehensive, cross-searchable collection of resources offering quick and easy access to Oxford University Press's prestigious genetics texts. Joining Oxford Medicine Online these resources offer students, specialists and clinical researchers the best quality content in an easy-to-access format. Online only benefits include downloading images and figures to PowerPoint and downloading chapters to PDF.
Author: Graeme C.M. Black Publisher: Elsevier ISBN: 0128139447 Category : Medical Languages : en Pages : 490
Book Description
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
Author: Alex V. Levin Publisher: Thieme ISBN: 1638531641 Category : Medical Languages : en Pages : 458
Book Description
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.
Author: Jack J. Kanski Publisher: Butterworth-Heinemann ISBN: 1483164365 Category : Medical Languages : en Pages : 171
Book Description
The Eye in Systemic Disease, Second Edition presents an overview of the relationship of the eye and medicine. The book details the systemic aspects of diseases. The topics discussed include various eye conditions such as conjunctivitis, episcleritis, keratitis, keratoconjunctivitis sicca, and cataract. Endocrine, circulatory, rheumatological, neurological, pulmonary, and blood disorders are covered as well. Physicians and students of medicine and pathology will find the book very useful.
Author: Richard R. Dubielzig Publisher: Elsevier Health Sciences ISBN: 0702044423 Category : Medical Languages : en Pages : 800
Book Description
Veterinary 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. 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
Author: Nicholas Robert Galloway Publisher: Springer Science & Business Media ISBN: 144713625X Category : Medical Languages : en Pages : 281
Book Description
Rich and colorful illustration Problem-oriented approach Technical terms are avoided, when they can be replaced with plain English Book deals with the science of Ophthalmology at a basic level Text concentrates on eye diseases which are likely to be seen by general practitioners and optometrists at the primary care level Ideal for students
Author: Charles R. Scriver Publisher: New York ; Montreal : McGraw-Hill ISBN: 9780071363198 Category : Genetic disorders Languages : en Pages : 6338
Book Description
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.