A Compendium of Inherited Disorders and the Eye

A Compendium of Inherited Disorders and the Eye

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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.show more

Product details

  • Hardback | 528 pages
  • 175.3 x 256.5 x 25.4mm | 975.23g
  • Oxford University Press Inc
  • New York, United States
  • English
  • Numerous colour photographs and tables
  • 0195170962
  • 9780195170962

Review quote

This catalog will be a wonderful addition to the literature on ophthalmic genetics, and I am happy to wholeheartedly endorse its publication. The writing is authoritarian and comprehensive. This book is destined to be a classic, should be available as a reference text for all clinics where patients with eye disease are seen, and should reside in a special place in the personal libraries of all physicians interested in genetic eye disease. * Richard G. Weleber, Casey Eye Institute, Oregon Health and Science University * This illustrated catalogue of inherited eye diseases by Elias Traboulsi is a welcome addition to the rapidly growing field of genetics in ophthalmology, filling a gap between the Mendelian Inheritance in Man (OMIM) and a textbook. Its alphabetical layout makes it straightforward to use, and its content provides clear insight into the relevant genetic, epidemilogic, and clinical features, and also some useful references in the literature. No doubt that this catalogue will meet the needs of professionals in oculogenetics, such as eye specialists, geneticists, genetic counsellors, and should be on the list of all medical librairies. * Francis Munier, Hopital Jules Gonin and Hospital for Sick Children * It is a challenge for a busy clinical ophthalmologist to keep up with this rapidly growing field of knowledge. Elias Traboulsi, an international authority on inherited eye disease, has written a very comprehensive, readable summary of the various genetic disorders that involve the eye. Genetics in Ophthalmology covers both the clinical features and the molecular genetic findings, including information about where to get molecular genetic testing performed. It is an excellent, readily accessible source of information about genetic eye disease that will be of great value to ophthalmologists and geneticists and other health professionals practicing in the field. Certainly a book to have in the consulting room! * Anthony T. Moore, Moorfields Eye Hospital * Where can one find a succinct but thorough reference, handy in its format, but accessible in its style, for the current information about a genetic disorder? This catalogue gives the reader a summary of seemingly innumerable clinical entities, but even more important, a list of diagnostic criteria, tips on management, and information about whether the gene has been mapped or cloned, current and relevant primary sources and references, and parent-or disease-specific support groups. This material is invaluable and should be in the hands of every practitioner! * Richard Alan Lewis, Huffington Center on Aging, Cullen Eye Institute, Baylor College of Medicine *show more

About Elias Traboulsi

Elias I. Traboulsi is Head of the Department of Pediatric Ophthalmology and Strabismus, Director of The Center for Genetic Eye Diseases, The Cole Eye Institute of the Cleveland Clinic Foundation, Professor of Ophthalmology at The Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, President of the International Society for Genetic Eye Disease, Editor-in-Chief of Ophthalmic Genetics and Executive Editor for the genetics section of the American Journal of Ophthalmology. He is also the author and editor of Genetic Diseases of the Eye.show more