A Compendium of Inherited Disorders and the Eye

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Overview

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.

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Editorial Reviews

Doody's Review Service
Reviewer: Robert S. Weinberg, MD (Johns Hopkins Bayview Medical Center)
Description: This is an extensive catalog of genetic diseases that affect the eye.
Purpose: The purpose is to provide general ophthalmologists, specialists, and other healthcare providers with clinical information on inherited eye diseases. This book does indeed provide useful clinical information and illustrative photographs of the many inherited eye diseases, making it a valuable resource to healthcare providers caring for such patients. The book clearly meets the objective of being a comprehensive reference for the many genetic diseases of the eye.
Audience: It is intended as a reference for ophthalmologists, but it is also a terrific resource for all healthcare providers, including family physicians, pediatricians, geneticists, and counselors who care for patients with genetic disorders. Furthermore, the book is a very useful reference for medical students and residents. It is authored by an expert in the field, and has contributions from other authorities in the field of genetic eye diseases.
Features: The book provides information on the many genetic diseases that have ocular manifestations. The information includes inheritance patterns, gene location, epidemiology, clinical findings, ocular findings, and therapeutic aspects. High quality photographs illustrate ocular findings as well as other clinical manifestations of the disease. Unique to this book is the information on support groups for almost all of the genetic diseases. Such information is useful to the healthcare provider counseling these patients on their disease.
Assessment: This book offers ophthalmologists and other healthcare providers a comprehensive and easy-to-use reference of the many genetic diseases that affect the eye.
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Product Details

Meet the Author

Elias I. Traboulsi, M.D. 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 Mediocine, 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.

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