Elias I. Traboulsi M.D. – författare
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E-bok
Engelska, 20051 150 kr
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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.
Del 13 - Oxford Monographs on Medical Genetics
Genetic Diseases of the Eye
Inbunden, Engelska, 2012
5 274 kr
Skickas inom 7-10 vardagar
This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic sourcebook on genetic diseases of the eye. This richly illustrated, full color text 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.Each chapter emphasizes the clinical aspects of disease, tying them to the underlying molecular mechanisms and outlining current therapy. While the molecular underpinnings, testing methods and therapy of genetic disorders continues to evolve, the clinical aspects are well established and are emphasized in this book. A large number of color figures are utilized to illustrate the various chapters and provide an essential Atlas aspect to this publication. This book is a 'must have' for pediatric ophthalmologists, retina specialists, and geneticists.New to this edition:- Several chapters have been dedicated to individual disorders, especially the retinal dystrophies, whose molecular genetic basis has been elucidated in the last decade or so.- A large chapter on genetic counseling has been added to the book that is case and family-based and provides a practical approach to counseling patients and families with inherited eye diseases.- A new chapter on the genetics of age-related macular degeneration and on proteomics as applies to age-related macular degeneration adds a new dimension to this book.- A new chapter on teratogens and ocular malformations by Kirstin Stromland, one of the world leaders in this field.- A new section on cancer genetics and the eye- New chapters on ocular imaging and gene therapy for inherited eye diseases.