Wills Eye Handbook of Ocular Genetics

by Alex V. Levin, Mario Zanolli, Jenina Capasso

Overview

Highly Commended by the BMA Medical Book Awards for Surgical Specialties!

Many serious, potentially blinding eye disorders have a genetic basis. Currently, there are relatively few ocular geneticists in the world, yet inherited eye disease is one of the leading causes of blindness worldwide. Significant strides have been made in gene identification and acquisition of knowledge on the underlying mechanisms of hereditary eye disease. The field of ocular genetics is becoming an increasingly relevant part of ophthalmologists' purview. This has resulted in a dire need for a comprehensive textbook ophthalmologists and other professionals who work with patients with genetic disorders can utilize to gain a better understanding of inherited eye disorders.

The Wills Eye Handbook of Ocular Genetics, by Alex Levin, Mario Zanolli, and Jenina Capasso of Wills Eye Hospital, is a practical, reader-friendly guide on the diagnosis and management of ophthalmic genetic conditions. Every chapter begins with a disease overview, followed by relevant modern genetic concepts, pathways to attaining the correct diagnosis, and pitfalls and pearls gleaned from years of hands-on expertise. At the end of each chapter, questions and answers enable readers to test their knowledge in real-life scenarios they might face in everyday practice. The ultimate goal of this clinically robust handbook is to facilitate optimal patient management and outcomes.

Key Features

• Fundamentals, including basic genetics, inheritance patterns, genetic testing, and ethical issues
• Patient-centered genetic counseling issues such as reproduction, dealing with emotional reactions, prognosis, and future options
• Anterior segment disorders - from corneal dystrophies and aniridia - to childhood cataract and microphthalmia
• A broad spectrum of vitreoretinopathies and retinal diseases including incontinentia pigmenti, retinitis pigmentosa, Bardet-Biedl syndrome, choroideremia, Stargardt disease, achromatopsia, and juvenile X-linked retinoschisis

This textbook is essential reading for practitioners at all levels and in all subspecialties including ophthalmology and genetics. They will find it an excellent resource for navigating the complexities of genetic eye disease.

Product Details

ISBN-13:	9781638531647
Publisher:	Thieme Publishers New York
Publication date:	10/01/2016
Sold by:	Barnes & Noble
Format:	eBook
Pages:	308
File size:	5 MB

Table of Contents

1 Basic Genetics
2 Inheritance Patterns
3 Genetic Testing
4 Ethical Issues
5 Corneal Dystrophies
6 Aniridia
7 Peters Anomaly
8 Axenfeld–Rieger Syndrome
9 Primary Congenital Glaucoma and Juvenile Open Angle Glaucoma
10 Childhood Cataract
11 Microphthalmia
12 Marfan Syndrome and Other Causes of Ectopia Lentis
13 Familial Exudative Vitreoretinopathy
14 Stickler Syndrome
15 VCAN Vitreoretinopathies (Erosive Vitreoretinopathy and Wagner Syndrome)
16 Incontinentia Pigmenti
17 Retinitis Pigmentosa
18 Usher Syndrome
19 Bardet–Biedl Syndrome
20 Cone–Rod Dystrophy
21 Choroideremia
22 Enhanced S-Cone Syndrome and Other NR2E3-Related Retinal Dystrophies
23 Stargardt Disease and Other ABCA4 Retinopathies
24 Best Vitelliform Macular Dystrophy (Best Disease)
25 Leber Congenital Amaurosis
26 Achromatopsia
27 Congenital Stationary Night Blindness
28 Juvenile X-Linked Retinoschisis
29 Retinoblastoma
30 Optic Nerve Hypoplasia
31 Leber Hereditary Optic Neuropathy
32 Complex Ocular Disorders
33 Albinism

Editorial Reviews

Reviewer: Luis F Escobar, MD, MS (Peyton Manning Children's Hospital)
Description: Genetic blindness is currently the most common cause of visual loss in the world, and it is extremely important that ophthalmologists continue to learn about the advances occurring in ocular genetics. This consultation resource is unique in the way it presents the information on ocular genetics: every entry starts with a simple definition, followed by an overview, molecular principles, a fascinating section with a differential diagnosis, and ends with available molecular testing and a series of vignettes with clinical cases.
Purpose: This purpose is to emphasize the importance of understanding genetic patterns in ocular disorders for which the etiology was not previously understood. The authors have documented well the most common clinical situations at the ocular level that nonspecialists may encounter. Their book is intended to update all ocular specialists and to provide them with an easy-to-use resource to help manage their patients.
Audience: This is an invaluable handbook for all ophthalmologists and ophthalmology residents, but it also is an extremely useful consultation book for general clinical geneticists. Perhaps optometry professionals will find it helpful as well. Dr. Levin is a professor at the Wills Eye Hospital in Philadelphia; Dr. Zanolli, currently on faculty at the University of Chile, is a former trainee at the Wills Eye Hospital; and Ms. Capasso is a genetic counselor at the Wills Eye Hospital. They have coordinated a group of experts in the field of ocular genetics to contribute to the book.
Features: The book is well organized, providing basic concepts of medical genetics in the early chapters before delving into specific clinical conditions that are likely to be seen by all practitioners involved in the care of patients with ocular disorders. Each entry begins with a definition, followed by an early description of the points to learn, a general overview with molecular key concepts, a unique section on differential diagnosis and the possible need for genetic testing. At the end of each entry, clinical scenarios reaffirm the information previously provided. The illustrations are well selected and reproduce well. The authors and contributors have done a good job keeping the information concise and direct; they avoid highly technical genetics terms. This is a clinical guide, and the authors have done an excellent job keeping that in mind.
Assessment: I have not seen such an effective and succinct clinical resource for a highly specialized field such as ocular genetics. This is a very attractive and easy-to-read book. Because of its unique format, there are no comparisons. The genetics community and the ocular medicine community will clearly expect future updates of this wonderful book.

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