A Compendium of Inherited Disorders and the Eye

Describing the two major groups of genetic eye diseases, this book demonstrates the importance of gene identification and mapping for understanding both common and rare disorders of the eye. It also includes a catalogue of almost 150 genetic diseases and their ocular manifestations.

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.