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.
Author(s): Alex Levin, Mario Zanolli, Jenina Capasso
Edition: 1st Edition
Publisher: Thieme
Year: 2018
Language: English
Commentary: ORIGINAL PUBLISHER PDF
Pages: 310
Tags: Ophthalmology; Genetics; Ophthalmology General; Genetics General
The Wills Eye Handbook of Ocular Genetics......Page 1
Title Page......Page 5
Copyright......Page 6
Dedication......Page 7
Contents......Page 9
Preface......Page 11
Contributors......Page 13
1 Basic Genetics......Page 15
2 Inheritance Patterns......Page 28
3 Genetic Testing......Page 38
4 Ethical Issues......Page 48
5 Corneal Dystrophies......Page 53
6 Aniridia......Page 64
7 Peters Anomaly......Page 72
8 Axenfeld–Rieger Syndrome......Page 79
9 Primary Congenital Glaucoma and Juvenile Open Angle Glaucoma......Page 86
10 Childhood Cataract......Page 95
11 Microphthalmia......Page 109
12 Marfan Syndrome and Other Causes of Ectopia Lentis......Page 120
13 Familial Exudative Vitreoretinopathy......Page 130
14 Stickler Syndrome......Page 137
15 VCAN Vitreoretinopathies (Erosive Vitreoretinopathy and Wagner Syndrome)......Page 145
16 Incontinentia Pigmenti......Page 151
17 Retinitis Pigmentosa......Page 161
18 Usher Syndrome......Page 171
19 Bardet–Biedl Syndrome......Page 177
20 Cone–Rod Dystrophy......Page 185
21 Choroideremia......Page 195
22 Enhanced S-Cone Syndrome and Other NR2E3-Related Retinal Dystrophies......Page 202
23 Stargardt Disease and Other ABCA4 Retinopathies......Page 209
24 Best Vitelliform Macular Dystrophy (Best Disease)......Page 223
25 Leber Congenital Amaurosis......Page 234
26 Achromatopsia......Page 244
27 Congenital Stationary Night Blindness......Page 249
28 Juvenile X-Linked Retinoschisis......Page 255
29 Retinoblastoma......Page 262
30 Optic Nerve Hypoplasia......Page 269
31 Leber Hereditary Optic Neuropathy......Page 277
32 Complex Ocular Disorders......Page 285
33 Albinism......Page 292
Index......Page 303
