Corneal Dystrophies and Degenerations: A Molecular Genetics Approach

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The recent discovery of specific gene mutations for corneal dystrophies has ushered in a new era for the study of these inherited corneal diseases. This concise and well-illustrated monograph captures the essential information needed by today's opthalmologists in this rapidly developing field. From summarizing the key aspects of the molecular genetics of corneal dystrophies to describing the use of the excimer laser to treat corneal diseases, this up-to date guide provides valuable information about the diagnosis...

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Overview

The recent discovery of specific gene mutations for corneal dystrophies has ushered in a new era for the study of these inherited corneal diseases. This concise and well-illustrated monograph captures the essential information needed by today's opthalmologists in this rapidly developing field. From summarizing the key aspects of the molecular genetics of corneal dystrophies to describing the use of the excimer laser to treat corneal diseases, this up-to date guide provides valuable information about the diagnosis and treatment of these disorders.

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Product Details

Table of Contents

Preface xv
Chapter 1 Molecular Genetics of Corneal Dystrophies 1
1-1 Inheritance of Corneal Dystrophies 2
1-2 5q-Linked Corneal Dystrophies 6
1-2-1 TGFBI Gene 6
1-2-2 Proposed Pathogenesis 6
1-3 Non-5q-Linked Corneal Dystrophies 8
1-3-1 Meesmann Corneal Dystrophy 9
1-3-2 Lattice Corneal Dystrophy Type II 9
1-3-3 Gelatinous Drop-like Corneal Dystrophy 10
1-3-4 Macular Corneal Dystrophy 10
1-4 Conclusion 10
References 11
Chapter 2 Epithelial, Basement Membrane, and Bowman's Layer Dystrophies 19
2-1 Epithelial Basement Membrane Dystrophy 20
2-1-1 Definition and Clinical Features 20
2-1-2 Histopathology 22
2-1-3 Ultrastructure 22
2-1-4 Molecular Genetics 22
2-2 Meesmann Epithelial Dystrophy 23
2-2-1 Definition and Clinical Features 23
2-2-2 Histopathology 24
2-2-3 Ultrastructure 24
2-2-4 Molecular Genetics 26
2-2-5 Putative Mechanism of Disease 27
2-3 Stocker-Holt Hereditary Epithelial Dystrophy 28
2-4 Lisch Corneal Dystrophy 29
2-4-1 Definition and Clinical Features 29
2-4-2 Histopathology 30
2-4-3 Ultrastructure 30
2-4-4 Molecular Genetics 31
2-5 Grayson-Wilbrandt Corneal Dystrophy 31
2-6 Reis-Bucklers and Honeycomb Corneal Dystrophy of Thiel-Behnke 31
2-6-1 Definition and Clinical Features 31
2-6-2 Histopathology 32
2-6-3 Ultrastructure 32
2-6-4 Molecular Genetics 33
2-7 Corneal Epithelial Dystrophies Associated With Genetic Disease 34
2-7-1 Anderson-Fabry Disease 34
2-7-2 Keratosis Follicularis Spinulosa Decalvans 34
2-7-3 Epidermolysis Bullosa 35
2-7-4 Corneodermato-osseus Syndrome 36
2-7-5 Darier Disease 36
2-7-6 Hereditary Mucoepithelial Dysplasia 36
2-7-7 Richner-Hanhart Syndrome 36
2-8 General Principles of Management 37
2-8-1 Supportive Treatment 37
2-8-2 Anterior Stromal Puncture and Phototherapeutic Keratoplasty 37
2-8-3 Possibilities for Gene Therapy 37
2-9 Conclusion 38
References 39
Chapter 3 Stromal Corneal Dystrophies 45
3-1 Lattice Corneal Dystrophies 46
3-1-1 Type I 46
3-1-2 Type II 46
3-1-3 Types III and IIIA 47
3-1-4 Treatment 47
3-2 Granular Corneal Dystrophies 48
3-2-1 Classical Form 48
3-2-2 Superficial Form 48
3-2-3 Molecular Genetics 48
3-3 Avellino Corneal Dystrophy 49
3-4 Macular Corneal Dystrophy 50
3-5 Central Cloudy Dystrophy of Francois 52
3-6 Fleck Dystrophy 53
3-7 Schnyder Crystalline Dystrophy 53
3-8 Gelatinous Drop-like Corneal Dystrophy 55
3-9 Keratoconus 56
3-10 Conclusion 58
References 59
Chapter 4 Endothelial Corneal Dystrophies 65
4-1 Endothelial Physiology 65
4-2 Fuchs Endothelial Dystrophy 66
4-2-1 Genetics and Causation 66
4-2-2 Histopathology 67
4-2-3 Clinical Manifestations 68
4-2-4 Management 70
4-3 Congenital Hereditary Endothelial Dystrophy 73
4-3-1 Genetics and Causation 73
4-3-2 Histopathology 74
4-3-3 Clinical Manifestations 75
4-3-4 Management 76
4-4 Posterior Polymorphous Dystrophy 76
4-4-1 Genetics and Causation 76
4-4-2 Histopathology 77
4-4-3 Clinical Manifestations 78
4-4-4 Management 80
4-5 Iridocorneal Endothelial Syndrome 82
4-5-1 Genetics and Causation 82
4-5-2 Histopathology 83
4-5-3 Clinical Manifestations 83
4-5-4 Management 84
4-6 Conclusion 86
References 86
Chapter 5 Corneal and Conjunctival Degenerations 95
5-1 Age-Related Corneal Degenerations 95
5-1-1 Arcus Senilis 95
5-1-2 Hassall-Henle Bodies 97
5-1-3 Limbal Girdle of Vogt 97
5-1-4 Crocodile Shagreen 98
5-1-5 Cornea Farinata 98
5-1-6 Polymorphic Amyloid Degeneration 99
5-2 Non-Age-Related Corneal Degenerations 99
5-2-1 Band Keratopathy 99
5-2-2 Terrien Marginal Degeneration 102
5-2-3 Spheroidal Degeneration 103
5-2-4 Salzmann Nodular Degeneration 104
5-2-5 Pellucid Marginal Degeneration 106
5-2-6 Coats White Ring 107
5-2-7 Lipid Keratopathy 108
5-2-8 Pigmentary Iron Lines 109
5-2-9 Corneal Deposits 110
5-2-9-1 Copper 110
5-2-9-2 Gold 110
5-2-9-3 Silver 111
5-3 Conjunctival Degenerations 111
5-3-1 Pinguecula 111
5-3-2 Pterygium 112
5-4 Conclusion 113
References 113
Chapter 6 Excimer Laser Surgery for Corneal Dystrophies 115
6-1 Patient Selection 116
6-2 Preoperative Assessment 117
6-3 Surgical Technique 117
6-4 Postoperative Care 118
6-5 Side Effects and Complications 118
6-5-1 Pain 118
6-5-2 Refractive Shifts 119
6-5-3 Induced Haze and Scarring 119
6-5-4 Infectious Keratitis 120
6-5-5 Corneal Graft Rejection 120
6-6 Clinical Outcomes 120
6-7 Conclusion 122
References 122
CME Credit 125
Reader's Responses 126
Answer Sheet 127
Product Evaluation 128
Self-Study Examination 129
Index 137
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