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Genetic Diseases of the Eye: Oxford Monographs on Medical Genetics, cartea 13

Editat de Elias I Traboulsi, MD
en Limba Engleză Hardback – 11 ian 2012
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.
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Specificații

ISBN-13: 9780195326147
ISBN-10: 0195326148
Pagini: 994
Ilustrații: 600 color and black & white halftones; 55 line illustrations
Dimensiuni: 282 x 229 x 53 mm
Greutate: 3.18 kg
Ediția:Second Edition
Editura: Oxford University Press
Colecția OUP USA
Seria Oxford Monographs on Medical Genetics

Locul publicării:New York, United States

Recenzii

With the rapidly evolving identification of both the genes and the mechanisms of genetic disorders of the brain and visual system, with the close approach of targeted genetic diagnostics, and, even more exciting, the appearance of gene replacement therapy for selected genetic eye disorders, we have waited patiently for the next generation of Genetic Diseases of the Eye. This liberally illustrated text covers both basic mechanisms and clinical spectrums with ample supplements of current references. As we move quickly toward whole exome sequencing for both disease phenotypes with multiple causal genes and the malformation syndromes with no apparent single causal gene, this text is an essential companion for every practitioner in genetics and ophthalmology!"
Dr. Traboulsi manages to flawlessly integrate the expanding knowledge of individual genes and their molecular functions with the evolving understanding of the clinical syndromes to which they are linked.
The new edition of Genetic Diseases of the Eye is an essential reference book for ophthalmologists and clinical geneticists who have an interest in inherited eye disorders. The book covers all the major genetic disorders of the eye, including developmental eye anomalies and those eye abnormalities that occur as part of multisystem disorders. Each of the chapters is written by leading experts in the field which ensures that each subject is covered in depth and the information is completely up to date. In addition there is sound practical advice about diagnosis and clinical management. It is an outstanding book that should take pride of place on the bookshelf of all clinicians working with patients with genetic eye disease.

Notă biografică

Head of the Department of Pediatric Ophthalmology and the Director of the Center for Genetic Eye Diseases at The Cleveland Clinic Cole Eye Institute. He is Professor of Ophthalmology at the Cleveland Clinic Lerner College of Medicine of Case University and Director of the Ophthalmology Residency Program at the Cleveland Clinic Foundation. He also serves as Vice-Chairman for Education at the Cole Eye Institute and Chairman of Graduate Medical Education at the Cleveland Clinic. He is Past President of The International Society for Genetic Eye Diseases and Retinoblastoma and its current executive vice-president. He has been the Editor-In-Chief of Ophthalmic Genetics sine 1992. He has authored more than 300 scientific articles and book chapters.