A Compendium of Inherited Disorders and the Eye
Series: American Academy of Ophthalmology Monograph Series; 18;
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Product details:
- Publisher OUP USA
- Date of Publication 26 January 2006
- ISBN 9780195170962
- Binding Hardback
- No. of pages272 pages
- Size 175x257x25 mm
- Weight 1029 g
- Language English
- Illustrations Numerous colour photographs and tables 0
Categories
Short description:
In the first section of A compendium of Inherited Disorders and the Eye Dr Traboulsi describes the two major groups of genetic eye diseases. The author clearly demonstrates the importance of gene identification and mapping for understanding both common and rare disorders of the eye. The second part of this volume is a catalogue of almost 150 genetic diseases and their ocular manifestations. From Albinism to Zellweger Syndrome, the inheritance, epidemiology, clinical presentation, ocular findings and therapeutic approaches relevant to each disorder are outlined. Overall, this unique text-reference provides a major contribution to the practice of ophthalmology today.
MoreLong description:
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.
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!
