A Compendium of Inherited Disorders and the Eye

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 *
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 *
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, Hôpital 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, Casey Eye Institute, Oregon Health and Science University *