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.

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

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Corneal Dystrophies and Degenerations A Molecular Genetics Approach

9780195168815

019516881X

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