Pediatric Retina

xx
CONTENTS
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
Yomtov Robert Barishak and Abraham Spierer
2 The Hyaloidal Vasculature and its r ole in Development..........................................................12
Charles M. Calvo, Ronald P. Hobbs, and M. Elizabeth Hartnett
3 Vitreous and Developmental Vitreoretinopathies .......................................................................17
Samuel Asanad and J. Sebag
4 Vitreous biochemistry and Pharmacologic Vitreolysis ............................................................32
Sasha Rosen, Matin Khoshnevis, and J. Sebag
5 r etinal Vascular Development ........................................................................................................... 44
Michelle E. LeBlanc, Jinling Yang, and Patricia A. D’Amore
6 Human Choriocapillaris Development .............................................................................................55
Gerard A. Lutty and D. Scott McLeod
7 Development of Cone Photoreceptors and the Fovea Centralis and the impact of
Prematurity .................................................................................................................................................67
Jan M. Provis and Michele C. Madigan
8 r etinal Development...............................................................................................................................76
Thomas A. Reh and Anna La Torre
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
Anne B. Fulton, Ronald M. Hansen, Bridget J. Peterson,
Laura Bagdonaite-Bejarano, and James D. Akula
10 ErG Waveforms in inherited Pediatric r etinal Diseases .......................................................107
Hanna M. De Bruyn, Wanda Pfeifer, Arlene V. Drack,
Ronald M. Hansen, and Anne B. Fulton
11 Amblyopia in Pediatric r etinal Conditions ..................................................................................116
Alina V. Dumitrescu and Pavlina S. Kempxxi ConTEnTS
12 Workup of infantile/Congenital nystagmus ............................................................................... 128
Brittni A. Scruggs and Arlene V. Drack
13 Early intervention and r ehabilitation in infants and Children With
Visual impairment .................................................................................................................................. 142
Lea V. M. Hyvärinen
14 Low Vision Management of Children and Teens With r etinal Disorders ....................... 158
Mark E. Wilkinson and Khadija S. Shahid
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
C. K. Patel and Andrew Blaikie
16 optical Coherence Tomography in infants and Children ...................................................... 189
Lejla Vajzovic, Anand Vinekar, and Cynthia A. Toth
17 Fluorescein Angiography in Pediatric r etinal Diseases .......................................................200
Nikisha Kothari, Niranjan Manoharan, and Irena Tsui
18 ultrasonographic imaging in infants and Children .................................................................. 213
Roger P. Harrie
19 imaging Analysis in infants and Children ..................................................................................... 221
Sang Jin Kim, John Peter Campbell, and Michael F. Chiang
20 image Storage and r etrieval and Telemedicine ....................................................................... 227
Marco H. Ji, Darius M. Moshfeghi, and Antonio Capone Jr
SECTION IV
GENETICS AND DEVELOPMENTAL DISORDERS IN PEDIATRIC RETINA ................241
21 Genetic Counseling for Pediatric r etinal Diseases ................................................................. 243
Karmen M. Trzupek and Briana L. Sawyer
22 Anomalies of the optic nerve ......................................................................................................... 255
Chrysanthi Basdekidou and George Caputo
23 Albinism .....................................................................................................................................................280
Katherine Ann Lee, Sylvia R. Kodsi, Joseph Carroll, and C. Gail Summers
24 neuronal Ceroid Lipofuscinoses and Lysosomal Storage Diseases .................................. 301
Sana Idrees and Mina Chung
25 r etinal Manifestations of Metabolic Disease in Children .....................................................320
Arif O. Khan
26 Generalized r etinal and Choroidal Diseases ............................................................................. 339
Meghan M. Brown and Kean T. Oh
27 Leber Congenital Amaurosis ............................................................................................................ 355
Razek Georges Coussa, Robert K. Koenekoop, and Elias I. Traboulsixxii ConTE nTS
28 Gene Therapy ...........................................................................................................................................372
Tomas S. Aleman, Albert M. Maguire, and Jean Bennett
29 Congenital Stationary night blindness (CSnb)....................................................................... 400
Christina Zeitz, Juliette Varin, and Isabelle Audo
30 Stargardt Macular Dystrophy/Fundus Flavimaculatus: From Disease and Gene
Discovery to identification of Disease Pathways to the Development of
Therapies .....................................................................................................................................................411
Robert K. Koenekoop and Thomas M. Aaberg Sr
31 Mitochondrial, Peroxisomal, Glycosylation Disorders ............................................................430
Samer Khateb, Ann Saada, Patrick Yu-Wai-Man, John B. Kerrison,
and Itay Chowers
32 bardet-biedl Syndrome ...................................................................................................................... 449
Seongjin Seo and Arlene V. Drack
33 usher Syndrome .....................................................................................................................................460
Alaa Koleilat, Raymond Iezzi Jr, and Lisa A. Schimmenti
34 X-Linked r etinoschisis ........................................................................................................................468
Catherine A. Cukras, Laryssa A. Huryn, Michael T. Trese, and Paul A. Sieving
35 norrie Disease .......................................................................................................................................... 481
Kimberly A. Drenser
36 incontinentia Pigmenti ........................................................................................................................ 485
T. Y. Alvin Liu and Morton F. Goldberg
37 High Myopia and Vitreoretinopathies ...........................................................................................494
Sherveen S. Salek and G. Baker Hubbard III
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
M. Elizabeth Hartnett, Haibo Wang, Aaron B. Simmons, Colin A. Bretz,
Eric Kunz, and Aniket Ramshekar
39 Weight Gain and r etinopathy of Prematurity ........................................................................... 515
Ann Hellström, Lois E. H. Smith, and Anna-Lena Hård
40 o xygen as a Pathogenic Factor in r etinopathy of Prematurity (roP) .......................... 527
Dolly A. Padovani-Claudio, Megan E. Capozzi, Colin A. Bretz, and John S. Penn
41 o xidative Mechanisms and Signaling Pathways r elated to Pathogenesis of
r etinopathy of Prematurity ...............................................................................................................541
Haibo Wang and M. Elizabeth Hartnett
42 Signaling Pathways in Wnt and Effects on Disease ................................................................554
Eric Nudleman, Geoffrey Weiner, and Kimberly A. Drenser
43 Hypoxia-inducible Factors and Prevention of roP ................................................................ 563
Jonathan E. Sears and George Hoppexxiii ConTEnTS
SECTION VI
TUMORS ...............................................................................................................................................571
44 retinoblastoma .......................................................................................................................................573
Jesse L. Berry and Joan Marie O'Brien
45 Treatment of r etinoblastoma ..........................................................................................................599
Lauren A. Dalvin, David Ancona-Lezama, and Carol L. Shields
46 Tumors in infants and Children.........................................................................................................619
Victor M. Villegas and Timothy G. Murray
SECTION VII
UVEITIS IN INFANTS AND CHILDREN ...................................................................................647
47 uveitis and Endophthalmitis Affecting infants and Children ............................................. 649
Christopher D. Conrady, Stephen D. Anesi, C. Stephen Foster, and Albert T. Vitale
48 Surgical Approaches to uveitis ........................................................................................................722
Stavros N. Moysidis, Edward H. Wood, Baruch D. Kuppermann, and Lisa J. Faia
49 uveitis Masquerade Syndromes ....................................................................................................... 747
Mikel Mikhail and Lisa J. Faia
SECTION VIII
RETINOPATHY OF PREMATURITY ............................................................................................761
50 Worldwide Causes of Childhood blindness ............................................................................... 763
Clare E. Gilbert and Nathalie Lepvrier-Chomette
51 Education and Management of r etinopathy of Prematurity Worldwide ...................... 784
Tala Al-Khaled, Samir N. Patel, and R. V. Paul Chan
52 Clinical Trials and Management of r etinopathy of Prematurity ....................................... 796
Julia P. Shulman and M. Elizabeth Hartnett
53 Anti-VEGF Treatment in r etinopathy of Prematurity ............................................................. 821
Anna L. Ells, Wei-Chi Wu, and Darius M. Moshfeghi
54 Evolution of Stage 4 r etinopathy of Prematurity ................................................................... 832
Antonio Capone Jr and Michael T. Trese
55 Treatment of Stages 4 and 5 r etinopathy of Prematurity .................................................. 838
Antonio Capone Jr, Michael T. Trese, and M. Elizabeth Hartnett
SECTION IX
PRINCIPLES OF SURGERY FOR PEDIATRIC RETINAL CONDITIONS .......................847
56 General Surgical Considerations and Preoperative Management in infants
and Children ............................................................................................................................................849
Michael T. Trese and Antonio Capone Jr
57 Anesthesia for infants and Children .............................................................................................. 852
P. Anthony Mezaxxiv ConTE nTS
58 External and Minor Surgical Procedures .....................................................................................860
Emmanuel Y. Chang, Antonio Capone Jr, and Michael T. Trese
59 Anterior Segment Surgery Combinations With Posterior Segment Diseases .............868
Mark K. Walsh
60 Surgical Approaches to infant and Childhood r etinal Diseases: Scleral buckles ......875
Jessica G. Lee and Philip J. Ferrone
61 Surgical Approaches to infant and Childhood r etinal Diseases:
intravitreal Surgery ............................................................................................................................... 884
Jonathan E. Sears
62 Endoscopic Vitreous Surgery in infants and Children ............................................................ 891
Sui Chien Wong and Thomas C. Lee
SECTION X
MANAGEMENT OF VITREORETINAL CONDITIONS OF INFANTS
AND CHILDREN ...............................................................................................................................897
63 Pediatric rhegmatogenous r etinal Detachment .....................................................................899
Lejla Vajzovic
64 Coats Disease ...........................................................................................................................................910
J. Michael Jumper
65 Persistent Fetal Vasculature Syndrome ........................................................................................ 921
Supalert Prakhunhungsit and Audina M. Berrocal
66 Pediatric Vitreoretinopathies: Familial Exudative Vitreoretinopathy,
norrie Disease, and incontinentia Pigmenti ............................................................................... 934
Lauren M. Wright and Yoshihiro Yonekawa
67 Epiretinal Membrane and Combined Hamartoma of the r etina
and r etinal Pigment Epithelium .....................................................................................................949
Cynthia A. Toth
68 Surgery for Gene Therapy ................................................................................................................. 958
Jonathan F. Russell, Albert M. Maguire, and Stephen R. Russell
69 Childhood ocular Trauma ................................................................................................................... 971
Mrinali P. Gupta and Philip J. Ferrone
70 nonaccidental Head Trauma ............................................................................................................. 990
George Caputo and Wei-Chi Wu
ATLAS
ATLAS A Hemorrhages .............................................................................................................................999
George Caputo
ATLAS b Macula ........................................................................................................................................1003
George Caputo
ATLAS C Pigmentary Changes ............................................................................................................ 1022
George Caputoxxv Con TEnTS
ATLAS D Posterior Segment Masses ................................................................................................. 1031
George Caputo
ATLAS E Flecks and Spots ................................................................................................................... 1036
Michael T. Trese, Antonio Capone Jr, and M. Elizabeth Hartnett
ATLAS F Abnormal r etinal Vasculature ......................................................................................... 1038
George Caputo
ATLAS G r etinal Detachment and Schisis .....................................................................................1045
George Caputo
ATLAS H optic nerve ..............................................................................................................................1050
George Caputo
Index ...............................................................................................................................................................................1059
APPENDIX OF PROCEDURAL VIDEOS ........................................................1083
George Caputo
EBOOK CHAPTERS
e1 basics of Genetic Testing and Methodology
Virginia Miraldi Utz and Diana Schorry Brightman
e2 Selected Pediatric r etinal Differential Diagnosis based on Clinical
Symptoms and Signs Virginia
Virginia Miraldi Utz and Elias I. Traboulsi
e3 online r esources for Pediatric r etinal Disorders
Arlene V. Drack
e4 Genetic Mutations and r elated Proteins Associated
With inherited r etinal Diseases
Robert S. Molday
e5 Extracellular Matrix r egulation of Vascular Development in the r etina
Saptarshi Biswas, William J. Brunken, and Dale D. Hunter
e6 Visual Anomalies Associated With r educed r etinal Pigmentation
Donnell J. Creel
e7 Applications for Human Pluripotent Stem Cell-Derived r etinal Cells
in Development, Disease and Cellular r eplacement
Kirstin B. VanderWall, Clarisse M. Fligor, Sailee S. Lavekar,
Kang-Chieh Huang, and Jason S. Meyer
e8 Human pluripotent stem cell-derived retinal organoids as in vitro models of
retinogenesis and therapeutic tools for retinal degeneration
Clarisse M. Fligor, Kang-Chieh Huang, Kirstin B. VanderWall,
Sailee S. Lavekar, and Jason S. Meyer
e9 r egenerative Medicine
Michael T. Trese, Edward H. Wood, Antonio Capone Jr, and Kimberly A. Drenserxxvi ConTE nTS
e10 international roP: r etinopathy of Prematurity in Chile
Andrés Kychenthal Bab and Paola Dorta Salfate
e11 international roP: r etinopathy of Prematurity in Mexico
María Ana Martínez-Castellanos, Ana González H. León, and Estephania Feria Anzaldo
e12 international roP: r etinopathy of Prematurity in india
Anand Vinekar