Inherited Eye Diseases: Diagnosis and Management PDF

Preface to Second Edition

Since the publication of the first edition of this book, genetics has remained in the forefront of human medical research. The Human Genome Project is, in fact, almost complete, with the entire human DNA sequence documented. A large number of human disease-bearing genes, were located, identified and even cloned. Many genes with thousands of mutations are now recognized. The old and accepted view that one gene causes one disease is no longer valid. The advent of molecular genetics has revolutionized all clinical subjects related to genetics including, of course, clinical ophthalmology, a discipline heavily dependent on genetics. Many human diseases have been found to be polygenic (caused by more than one gene), while in other cases, one gene may be responsible for several, sometimes very different, diseases. These were surprising and unexpected findings. As a result, we can not use the name of the gene in place of the name of the disease. They are, rather, supplementary terms. The name of a disease, which represents the clinical findings of this particular disease (or ‘‘phenotype''), will remain the nomenclature for the clinician. The name and chromosomal location of the disease-causative gene, as well as the involved mutation or mutations, will all become part of the accepted clinical terminology.

This book will continue to be based on tissues and diseases as in the first edition. However, it will be enormously expanded to include all the new developments in this field of genetics and ophthalmology. New chapters have been added, such as my introductory chapter on the changing face of genetics in ophthalmology, a chapter on molecular genetics written by Dror Sharon, a chapter on thrombophilia and genetically triggered retinal vascular diseases, and others. In addition, multiple new sub-chapters have been added to the first edition. Some are devoted to important genes, recently identified, and others to new diseases and their management. The rapid expansion of genetics research makes it extremely difficult to currently record all genes and mutations in a single book. I have decided to keep the book as a practical handbook for the clinician. It may be possible to find some of the rare genes and mutations online at the National Center for Biotechnology Information's OMIM Online Mendelian Inheritance in Man website (http://www.ncbi.nlm.nih.gov/ Omim/) and other related sites.

In the preparation of this second edition, I was assisted by several people. I would like to acknowledge the help of Jose Pulido, MD and Margaret Chervinko from the University of Illinois at Chicago College of Medicine; Dana Bigelow from Taylor & Francis in New York; Sandra Beberman and her colleagues from Taylor & Francis, the publisher of this edition; Sara Katineri, and Israel Barzel from Hadassah University Medical Center in Jerusalem. Financial support was given by a grant from the University of Illinois Nelson Sisters Fund.