About the Book
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.
About 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.
Review :
"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 catalog 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 M.D., M. S., Huffington Center on Aging, Cullen Eye Institute, Baylor College of
Medicine
"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!" --Professor Anthony T Moore, Moorfields Eye Hospital
"This illustrated catalog 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, epidemiologic, and clinical features, and also some useful references in the literature. No doubt that
this catalog will meet the needs of professionals in oculogenetics, such as eye specialists, geneticists, genetic counsellors, and should be on the list of all medical libraries." --Francis Munier, M.D.,
Hospital Jules Gonin and Hospital for Sick Children
"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, M.D., Casey Eye Institute, Oregon Health & Science University
"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 M.D., M. S., Professor, Departments of Ophthalmology, Medicine, Pediatrics, and
Molecular and Human Genetics, Faculty Associate, Huffington Center on Aging, Cullen Eye Institute, Baylor College of Medicine
"Advances in molecular biology are having a major impact in many areas of medicine including clinical ophthalmology. 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, Professor of Ophthalmology, Institute of Ophthalmology and Moorfields Eye Hospital, London
"The book clearly meets the objective of being a comprehensive reference for the many genetic diseases of the eye."--Doody's
"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. 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 . . . This book offers ophthalmologists and other healthcare providers a comprehensive and easy-to-use reference of the many genetic diseases that affect the eye." --Doody's, Robert S. Weinberg, MD, Johns Hopkins Bayview Medical Center
"This is an extremely valuable resource for the clinician and their patients."--American Orthoptic Journal, vol. 56
"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!" --Professor 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 catalog 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 M.D., M. S., Huffington Center on Aging, Cullen Eye Institute, Baylor College of
Medicine
"This illustrated catalog 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, epidemiologic, and clinical features, and also some useful references in the literature. No doubt that
this catalog will meet the needs of professionals in oculogenetics, such as eye specialists, geneticists, genetic counselors, and should be on the list of all medical libraries." --Francis Munier, M.D.,
Hospital Jules Gonin and Hospital for Sick Children
"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, M.D., Casey Eye Institute, Oregon Health & Science University
"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 M.D., M. S., Professor, Departments of Ophthalmology, Medicine, Pediatrics, and
Molecular and Human Genetics, Faculty Associate, Huffington Center on Aging, Cullen Eye Institute, Baylor College of Medicine
"Advances in molecular biology are having a major impact in many areas of medicine including clinical ophthalmology. 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, Professor of Ophthalmology, Institute of Ophthalmology and Moorfields Eye Hospital, London
"The book clearly meets the objective of being a comprehensive reference for the many genetic diseases of the eye."--Doody's
"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. 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 . . . This book offers ophthalmologists and other healthcare providers a comprehensive and easy-to-use reference of the many genetic diseases that affect the eye." --Doody's, Robert S. Weinberg, MD, Johns Hopkins Bayview Medical Center
"This is an extremely valuable resource for the clinician and their patients."--American Orthoptic Journal, vol. 56
