PEDIATRIC RETINA. 3RD EDITION

Contributors ..vii
Foreword . xvii
Preface . xviii
Acknowledgments . xix
• SECTION I DEVELOPMENT OF THE EYE AND RETINA .1
1 Embryology of the r etina and Developmental Disorders 3
2 The Hyaloidal Vasculature and its r ole in Development12
3 Vitreous and Developmental Vitreoretinopathies .17
4 Vitreous biochemistry and Pharmacologic Vitreolysis 32
5 r etinal Vascular Development . 44
6 Human Choriocapillaris Development .55
7 Development of Cone Photoreceptors and the Fovea Centralis and the impact of Prematurity .67
8 Retinal Development.76
• SECTION II ASSESSMENT AND REHABILITATION OF VISUAL FUNCTION IN PEDIATRIC RETINAL CONDITIONS . 89
9 Assessment of Vision and r etinal Function in infants and Children .91
10 ErG Waveforms in inherited Pediatric r etinal Diseases .107
11 Amblyopia in Pediatric r etinal Conditions 116
12 Workup of infantile/Congenital nystagmus . 128
13 Early intervention and r ehabilitation in infants and Children With Visual impairment 142
14 Low Vision Management of Children and Teens With r etinal Disorders . 158
SECTION III. IMAGING OF THE INFANT AND CHILD EYE AND RETINA .171
15 r etinal Photography and Multi-Wavelength imaging in infants and Children . 173
16 optical Coherence Tomography in infants and Children 189
17 Fluorescein Angiography in Pediatric r etinal Diseases .200
18 ultrasonographic imaging in infants and Children 213
19 imaging Analysis in infants and Children . 221
20 image Storage and r etrieval and Telemedicine . 227
• SECTION IV. GENETICS AND DEVELOPMENTAL DISORDERS IN PEDIATRIC RETINA 241
21 Genetic Counseling for Pediatric r etinal Diseases . 243
22 Anomalies of the optic nerve . 255
23 Albinism .280
24 neuronal Ceroid Lipofuscinoses and Lysosomal Storage Diseases 301
25 r etinal Manifestations of Metabolic Disease in Children .320
26 Generalized r etinal and Choroidal Diseases . 339
27 Leber Congenital Amaurosis 355
28 Gene Therapy .372
29 Congenital Stationary night blindness (CSnb). 400
30 Stargardt Macular Dystrophy/Fundus Flavimaculatus: From Disease and Gene Discovery to identification of Disease Pathways to the Development of Therapies .411
31 Mitochondrial, Peroxisomal, Glycosylation Disorders 430
32 bardet-biedl Syndrome 449
33 usher Syndrome .460
34 X-Linked r etinoschisis 468
35 norrie Disease 481
36 incontinentia Pigmenti 485
37 High Myopia and Vitreoretinopathies .494
• SECTION V. PATHOPHYSIOLOGY IN RETINAL DISEASES 503
38 Mechanisms of VEGF Signaling in Developmental and Pathologic Angiogenesis r elated to r etinopathy of Prematurity.505
39 Weight Gain and r etinopathy of Prematurity . 515
40 o xygen as a Pathogenic Factor in r etinopathy of Prematurity (roP) 527
41 o xidative Mechanisms and Signaling Pathways r elated to Pathogenesis of retinopathy of Prematurity .541
42 Signaling Pathways in Wnt and Effects on Disease 554
43 Hypoxia-inducible Factors and Prevention of roP 563
• SECTION VI. TUMORS .571
44 retinoblastoma .573
45 Treatment of r etinoblastoma 599
46 Tumors in infants and Children.619
• SECTION VII. UVEITIS IN INFANTS AND CHILDREN .647
47 uveitis and Endophthalmitis Affecting infants and Children . 649
48 Surgical Approaches to uveitis 722
49 uveitis Masquerade Syndromes . 747
• SECTION VIII. RETINOPATHY OF PREMATURITY 761
50 Worldwide Causes of Childhood blindness . 763
51 Education and Management of r etinopathy of Prematurity Worldwide 784
52 Clinical Trials and Management of r etinopathy of Prematurity . 796
53 Anti-VEGF Treatment in r etinopathy of Prematurity . 821
54 Evolution of Stage 4 r etinopathy of Prematurity . 832
55 Treatment of Stages 4 and 5 r etinopathy of Prematurity 838
• SECTION IX. PRINCIPLES OF SURGERY FOR PEDIATRIC RETINAL CONDITIONS .847
56 General Surgical Considerations and Preoperative Management in infants and Children 849
57 Anesthesia for infants and Children 852
58 External and Minor Surgical Procedures .860
59 Anterior Segment Surgery Combinations With Posterior Segment Diseases .868
60 Surgical Approaches to infant and Childhood r etinal Diseases: Scleral buckles 875
61 Surgical Approaches to infant and Childhood r etinal Diseases: intravitreal Surgery . 884
62 Endoscopic Vitreous Surgery in infants and Children 891
• SECTION X. MANAGEMENT OF VITREORETINAL CONDITIONS OF INFANTS AND CHILDREN .897
63 Pediatric rhegmatogenous r etinal Detachment .899
64 Coats Disease .910
65 Persistent Fetal Vasculature Syndrome 921
66 Pediatric Vitreoretinopathies: Familial Exudative Vitreoretinopathy, norrie Disease, and incontinentia Pigmenti . 934
67 Epiretinal Membrane and Combined Hamartoma of the retina and retinal Pigment Epithelium .949
68 Surgery for Gene Therapy . 958
69 Childhood ocular Trauma . 971
70 nonaccidental Head Trauma . 990
• ATLAS
ATLAS A Hemorrhages .999
ATLAS b Macula 1003
ATLAS C Pigmentary Changes 1022
ATLAS D Posterior Segment Masses . 1031
ATLAS E Flecks and Spots . 1036
ATLAS F Abnormal r etinal Vasculature . 1038
ATLAS G r etinal Detachment and Schisis .1045
ATLAS H optic nerve 1050
Index .1059
APPENDIX OF PROCEDURAL VIDEOS 1083
• EBOOK CHAPTERS
e1 basics of Genetic Testing and Methodology
e2 Selected Pediatric r etinal Differential Diagnosis based on Clinical
e3 online r esources for Pediatric r etinal Disorders
e4 Genetic Mutations and r elated Proteins Associated
e5 Extracellular Matrix r egulation of Vascular Development in the r etina
e6 Visual Anomalies Associated With r educed r etinal Pigmentation
e7 Applications for Human Pluripotent Stem Cell-Derived r etinal Cells in Development, Disease and Cellular replacement
e8 Human pluripotent stem cell-derived retinal organoids as in vitro models of retinogenesis and therapeutic tools for retinal degeneration
e9 r egenerative Medicine
e10 international roP: r etinopathy of Prematurity in Chile
e11 international roP: r etinopathy of Prematurity in Mexico
e12 international roP: r etinopathy of Prematurity in india

An essential resource for both general ophthalmologists and pediatric and retina specialists, Pediatric Retina, Third Edition, offers a comprehensive overview of all aspects of diagnosis and treatment of major medical and surgical diseases in this challenging field. Dr. Mary Elizabeth Hartnett, along with internationally acclaimed physicians, surgeons, and scientists, guides you through today’s best practices for retinal diseases in infants and children. Hundreds of superb, full-color images (many new to this edition), as well as clinical videos online, provide clear visual support.

• Covers the development of the eye and retina, relevant basic/translational science, telemedicine, international ophthalmology, and international approaches to care with focus on retinopathy of prematurity.
• Includes new and expanded information on pediatric retinal imaging, genetics, pathophysiology of disease, clinical diagnostics, and care including surgery, gene therapy, and methods to restore vision.
• Features an atlas of retinal images grouped by fundus appearance to aid in diagnosis.
• Discusses advances in posterior segment imaging with spectral domain hand-held OCT, along with endoscope in vitreoretinal surgery.

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