Genetic Diseases of the Eye, 2nd Edition

ISBN: 9780195326147
ISBN-10: 0195326148
Copyright: 2012
Edition: 2nd
Editor: Traboulsi, Elias I.
Doody's Expert Review    Score: 87
Reviewer: Jordana Smith,  MD  (Children's Memorial Hospital)
This review was written by Jordana Smith, MD, and Marilyn Mets, MD (Children's Memorial Hospital).

This is the second edition of a comprehensive review of ophthalmic genetic disorders and their associated clinical findings, including their genetic foundation, diagnostic workup, and management options. The varied individual genetic causes of ocular manifestations and diagnoses are reviewed and correlated with OMIM data and updated basic science data. This a needed update of the 1999 edition.
The purpose is to provide an update on the exponentially increasing field of genetics as it relates to ophthalmic approach to, diagnosis, and management of the patient with a genetic disorder. This field is rapidly growing and deserves to be readdressed because of the substantial increase in knowledge of both the genetic basis for disease and the molecular function of the genes themselves as they relate to the field of ophthalmology.
Edited by an authority on ocular genetics, this book is targeted at ophthalmic physicians for whom genetic basis of disease is a particular interest. It also serves as a resource for residents and fellows.
The book reviews the spectrum of ophthalmic manifestations of genetic disease, covering malformations, anterior and posterior segment disorders, eye movement abnormalities, and systemic associations. There is also a section on cancer genetics. The portion on retinal and optic nerve disease is exceptionally comprehensive, providing a review of clinical syndromes with a discussion of separate causative genes, clinical diagnosis including electrophysiology, and outstanding photography. Fundus photos, intravenous fluorescein angiography, ocular coherence tomography, electrophysiology testing, and molecular diagrams are integrated into the text with extraordinary ease.
Dr. Traboulsi manages to flawlessly integrate the expanding knowledge of individual genes and their molecular functions with the evolving understanding of the clinical syndromes to which they are linked.
Review Questionnaire
Range Question Score
1-10 Are the author's objectives met? 8
1-10 Rate the worthiness of those objectives. 8
1-5 Is this written at an appropriate level? 5
1-5 Is there significant duplication? (1=significant, 5=insignificant) 4
1-5 Are there significant omissions? (1=significant, 5=insignificant) 4
1-5 Rate the authority of the authors. 5
1-5 Are there sufficient illustrations? 5
1-5 Rate the pedagogic value of the illustrations. 4
1-5 Rate the print quality of the illustrations. 4
1-5 Are there sufficient references? 5
1-5 Rate the currency of the references. 4
1-5 Rate the pertinence of the references. 4
1-5 Rate the helpfulness of the index. 5
1-5 If important in this specialty, rate the physical appearance of the book 4
1-10 Is this a worthwhile contribution to the field? 8
1-10 If this is a 2nd or later edition, is this new edition needed? 10