Pediatric Retina: Medical and Surgical Approaches

574 Pages·2004·12.057 MB·English

by  Mary Elizabeth Hartnett et al.

Pediatric Retina
Pediatric Retina
EDITOR-IN-CHIEF
Mary Elizabeth Hartnett, MD
Associate Professor of Ophthalmology
Department of Ophthalmology
University of North Carolina School of Medicine
Chapel Hill, North Carolina
SURGERY SECTION EDITORS
Michael Trese, MD Antonio Capone, Jr., MD
Associated Retinal Consultants Clinical Associate Professor
Clinical Professor of Biomedical Sciences Department of Biomedical Sciences
Eye Research Institute Oakland University
Oakland University Auburn Hills, Michigan
Rochester, Michigan Director, Fellowship in Vitreoretinal Diseases
Chief of Adult and Pediatric Vitreoretinal Surgery Department of Ophthalmology
Department of Ophthalmology William Beaumont Hospital
William Beaumont Hospital Royal Oak, Michigan
Royal Oak, Michigan
GENETICS SECTION EDITOR MEDICAL SECTION EDITOR
Bronya J. B. Keats, PhD Scott M. Steidl, MD, DMA
Professor and Chair Associate Professor
Department of Genetics Department of Ophthalmology
Louisiana State University Health Sciences Center University of Maryland School of Medicine
New Orleans, Louisiana Baltimore, Maryland
Director of Vitreoretinal Services
Department of Ophthalmology
University of Maryland Medical System
Baltimore, Maryland
Acquisitions Editor: Jonathan Pine
Developmental Editor: Scott Scheidt
Marketing Manager: Kathy Neely
Production Editor: David Murphy
Compositor: Maryland Composition, Inc.
Printer: Quebecor-Kingsport
©2005 by LIPPINCOTT WILLIAMS & WILKINS
530 Walnut Street
Philadelphia, PA 19106-3780 USA
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Library of Congress Cataloging-in-Publication Data
Pediatric retina:medical and surgical approaches / [edited by] Mary Elizabeth
Hartnett—[et al.].
p. ; cm.
Includes bibliographical references.
ISBN 0-7817-4782-1
1. Pediatric ophthalmology. 2. Retina–Diseases. I. Hartnett, Mary Elizabeth.
[DNLM: 1. Retinal Diseases–Child. 2. Retinal Diseases–Infant. 3. Ophthalmologic
Surgical Procedures–methods–Child. 4. Ophthalmologic Surgical Procedures–methods–
Infant. WW 270 P371 2005]
RE48.2.C5P455 2005
618.92’097735–dc22
Care has been taken to confirm the accuracy of the information presented and to describe generally ac-
cepted practices. However, the author and publisher are not responsible for errors or omissions or for any con-
sequences from application of the information in this book and make no warranty, expressed or implied, with
respect to the currency, completeness, or accuracy of the contents of the publication. Application of this infor-
mation in a particular situation remains the professional responsibility of the practitioner.
The author and publisher have exerted every effort to ensure that drug selection and dosage set forth in
this text are in accordance with current recommendations and practice at the time of publication. However, in
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ommended agent is a new or infrequently employed drug.
Some drugs and medical devices presented in this publication have Food and Drug Administration (FDA)
clearance for limited use in restricted research settings. It is the responsibility of the health care provider to as-
certain the FDA status of each drug or device planned for use in their clinical practice.
10 9 8 7 6 5 4 3 2 1

CONTENTS
Foreword. . . . . . . . . . . . . . . . . . . . . . . . . . xiii
Preface. . . . . . . . . . . . . . . . . . . . . . . . . . . . xv
SECTION I: CLINICAL ASSESS - CHAPTER 6
MENT AND MANAGEMENT OF Albinism, Lysosomal Storage Diseases,
MEDICAL RETINAL DISEASES IN and Other Metabolic Conditions. . . . . . . 77
INFANTS AND CHILDREN Michael Marble
CHAPTER 1
CHAPTER 7
Embryology of the Posterior
Generalized Retinal and Choroidal
Segment and Developmental
Dystrophies . . . . . . . . . . . . . . . . . . . . . . . . 95
Disorders. . . . . . . . . . . . . . . . . . . . . . . . . . 1
Kean T. Oh and Anup Parikh
A. Embryology of the Retina and
DevelopmentalDisorders
Y. Robert Barishak and Abraham Spierer
CHAPTER 8
B. Vitreous Embryology and Vitreo-Retinal
Stargardt Disease/Fundus
Developmental Disorders
Flavimaculatus. . . . . . . . . . . . . . . . . . . . . . 117
Jerry Sebag and Natalie Nguyen
Brian D. Sippy and Thomas A. Aaberg, Sr.
CHAPTER 2
Visual Assessment of the
CHAPTER 9
Infant and Child: Assessment of
Mitochondrial and Peroxisomal
Vision in Infants and Children with
Disorders. . . . . . . . . . . . . . . . . . . . . . . . . . 131
Vision Loss. . . . . . . . . . . . . . . . . . . . . . . . . 29
Itay Chowers and John B. Kerrison
Lea Hyvärinen
CHAPTER 3 CHAPTER 10
Examination of Pediatric Hereditary Retinitis Pigmentosa . . . . . . . 141
Retinal Function. . . . . . . . . . . . . . . . . . . . 45 Raghu C. Murthy and J. Timothy Stout
Anne B. Fulton and Ronald M. Hansen
CHAPTER 11
CHAPTER 4
Usher Disease . . . . . . . . . . . . . . . . . . . . . . 161
Genetic Counseling for
Bronya J. B. Keats
Retinal Diseases. . . . . . . . . . . . . . . . . . . . . 61
Deborah Costakos and J. Bronwyn Bateman
CHAPTER 12
CHAPTER 5 Methods to Restore Vision. . . . . . . . . . . . 169
Posterior Segment Imaging in
A. Visual Prostheses
Infants and Children . . . . . . . . . . . . . . . . 67 John I. Loewenstein, Scott M. Warden, and
Cynthia de A. Carvalho Recchia, Carol L. Shields, Joseph F. Rizzo
Franco M. Recchia, and Antonio Capone, Jr. B. Retinal Transplantation
Sven Crafoord and Peep V. Algvere
v
vi Contents
CHAPTER 13 CHAPTER 21
Gene Therapy for Pediatric General Anesthesia in Premature
Retinal Diseases. . . . . . . . . . . . . . . . . . . . . 189 Infants . . . . . . . . . . . . . . . . . . . . . . . . . . . . 347
Albert M. Maguire and Jean Bennett P. Anthony Meza
CHAPTER 22
CHAPTER 14
Surgical Approaches to Infant and
Retinoblastoma. . . . . . . . . . . . . . . . . . . . . 205
Childhood Retinal Diseases:
R. Max Conway, Thomas M. Aaberg, Jr.,
G. Baker Hubbard III, and Joan M. O’Brien Noninvasive Methods . . . . . . . . . . . . . . . . 355
Michael T. Trese and Antonio Capone, Jr.
CHAPTER 15
Other Tumors in Infants and CHAPTER 23
Surgical Approaches to Infant and
Children . . . . . . . . . . . . . . . . . . . . . . . . . . 225
Childhood Retinal Diseases:
Marsha C. Cheung, Joan M. O’Brien,
Thomas M. Aaberg, Jr., and Invasive Methods. . . . . . . . . . . . . . . . . . . . 359
G. Baker Hubbard III
Michael T. Trese and Antonio Capone, Jr.
CHAPTER 16 CHAPTER 24
Uveitis Affecting Infants and Children: Pediatric Rhegmatogenous Retinal
Infectious Causes. . . . . . . . . . . . . . . . . . . 249 Detachment. . . . . . . . . . . . . . . . . . . . . . . . 365
Albert T. Vitale and C. Stephen Foster Antonio Capone, Jr., and Michael T. Trese
CHAPTER 25
CHAPTER 17
Congenital X-Linked Retinoschisis . . . . . 377
Uveitis Affecting Infants and Children:
Paul A. Sieving, Ian M. MacDonald, and
Noninfectious Causes . . . . . . . . . . . . . . . 291
Michael T. Trese
C. Stephen Foster, Albert T. Vitale, Leila Kump,
and Zein Ghassan
CHAPTER 26
Retinopathy of Prematurity:
CHAPTER 18 Current Understanding Based on
Worldwide Causes of Childhood Clinical Trials and Animal Models . . . . . 387
Blindness. . . . . . . . . . . . . . . . . . . . . . . . . . 315 Janet R. McColm and Mary Elizabeth Hartnett
Clare Gilbert
CHAPTER 27
Retinopathy of Prematurity: Evolution of
SECTION II: CLINICAL ASSESS - Stages 4 and 5 ROP and Management . . 411
MENT AND MANAGEMENT OF A. Evolution to Retinal Detachment and
RETINAL DISEASES REQUIRING Physiologically-Based Management
Michael T. Trese and Antonio Capone, Jr.
SURGERY IN INFANTS AND
B. Treatment of Retinopathy of Prematurity:
CHILDREN
Peripheral Retinal Ablation and Vitreoretinal
Surgery
Antonio Capone, Jr., Mary Elizabeth Hartnett,
CHAPTER 19
andMichael T. Trese
General Surgical Considerations
in Infants and Children . . . . . . . . . . . . . . 331 CHAPTER 28
Michael T. Trese and Antonio Capone, Jr. Familial Exudative Vitreoretinopathy . . . 425
Michael T. Trese and Antonio Capone, Jr.
CHAPTER 20
CHAPTER 29
Preoperative Management of the
Coats’ Disease . . . . . . . . . . . . . . . . . . . . . . 429
Infant and Child. . . . . . . . . . . . . . . . . . . . 337
Franco M. Recchia, Antonio Capone, Jr., and
Scott M. Steidl Michael T. Trese
Contents vii
CHAPTER 30 APPENDIX C
Persistent Fetal Vasculature Syndrome Macular Abnormalities. . . . . . . . . . . . . . . 521
(Persistent Hyperplastic Primary Michael T. Trese, Antonio Capone, Jr., and
Vitreous) . . . . . . . . . . . . . . . . . . . . . . . . . . 437 Mary Elizabeth Hartnett
Michael T. Trese and Antonio Capone, Jr.
APPENDIX D
CHAPTER 31 Pigmentary Abnormalities . . . . . . . . . . . . 525
Surgical Approaches to Uveitis . . . . . . . . 445
Michael T. Trese, Antonio Capone, Jr., and
Melanie H. Erb and Baruch D. Kuppermann Mary Elizabeth Hartnett
CHAPTER 32
APPENDIX E
Trauma . . . . . . . . . . . . . . . . . . . . . . . . . . . 467
Posterior Segment Masses . . . . . . . . . . . . 527
Ferenc Kuhn, Robert Morris, and Viktória Mester
Michael T. Trese, Antonio Capone, Jr., and
Mary Elizabeth Hartnett
SECTION III: VISUAL REHABILITA -
APPENDIX F
TION OF INFANTS AND CHILDREN
Fundus Flecks and White Spot
WITH LOW VISION
Syndromes. . . . . . . . . . . . . . . . . . . . . . . . . 529
Michael T. Trese, Antonio Capone, Jr., and
CHAPTER 33 Mary Elizabeth Hartnett
Visual Rehabilitation of the Infant
and Child. . . . . . . . . . . . . . . . . . . . . . . . . . 491
APPENDIX G
Lea Hyvärinen
Abnormal Vascular Patterns. . . . . . . . . . . 531
Michael T. Trese, Antonio Capone, Jr., and
APPENDICES Mary Elizabeth Hartnett
APPENDIX A
APPENDIX H
Localized and Identified Genes
Retinal Detachment and Retinoschisis . . 535
Associated with Retinal Disorders as
Michael T. Trese, Antonio Capone, Jr., and
Categorized to Inheritance Pattern. . . . . 515 Mary Elizabeth Hartnett
Bronya J.B. Keats, Deborah Costakos, and
J. Bronwyn Bateman
APPENDIX I
Optic Nerve Abnormalities . . . . . . . . . . . 537
APPENDIX B
Hemorrhages . . . . . . . . . . . . . . . . . . . . . . 519 Michael T. Trese, Antonio Capone, Jr., and Mary
Elizabeth Hartnett
Michael T. Trese, Antonio Capone, Jr., and
Mary Elizabeth Hartnett Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 541

CONTRIBUTORS
Thomas A. Aaberg, Sr, MD, MSPH Professor and Chair,
Itay Chowers, MDLecturer in Ophthalmology, Department
Department of Ophthalmology, Emory University; Chief,
of Ophthalmology, Hadassah School of Medicine, Hebrew
Department of Ophthalmology, Emory University Hospital,
University, Jerusalem, Israel
Atlanta, Georgia
R. Max Conway, MD, PhDSenior Lecturer, Save Sight In-
Thomas M. Aaberg, Jr, MDAssistant Clinical Professor, De- stitute, Department of Ophthalmology, University of Syd-
partment of Ophthalmology, Michigan State University, ney; Consultant Ophthalmologist, Department of Ophthal-
Grand Rapids, Michigan mology, Sydney Eye Hospital, Sydney, NSW, Australia
Peep V. Algevere, MD, PhD Department of Ophthalmol- Deborah Costakos, MD, MS Pediatric Ophthalmologist,
ogy, Örebro University Hospital, Örebro, Sweden Department of Ophthalmology, Columbia St. Mary’s,
Milwaukee, Wisconsin
Y. Robert Barishak, MDProfessor, Department of Ophthal-
mology, Tel Aviv University, Tel Aviv, Israel; Professor, Vet- Sven Crafoord, MD, PhD Associate Professor, Department
erinary Faculty, Hebrew University of Jerusalem, University of Ophthalmology, Örebro University Hospital; Senior Vit-
Veterinary Hospital, Jerusalem, Israel reo Retinal Surgeon, Department of Ophthalmology, Örebro
University Hospital, Örebro, Sweden
J. Bronwyn Bateman, MDProfessor and Chair of Ophthal-
mology, University of Colorado; Director, Department of Melanie H. Erb, MDDepartment of Ophthalmology, Uni-
Ophthalmology, Rocky Mountain Lions Eye Institute, Au- versity of California at Irvine, Irvine, California; Department
rora, Colorado of Ophthalmology, UC Irvine Medical Center, Orange,
California
Jean Bennett, MD, PhD Professor, Department of
Ophthalmology, University of Pennsylvania, Philadelphia, C. Stephen Foster MD, FACSProfessor of Ophthalmology,
Pennsylvania Harvard Medical School; Director, Ocular Immunology and
Uveitis, Massachusetts Eye and Ear Infirmary, Boston,
Antonio Capone, Jr, MD Clinical Associate Professor, De- Massachusetts
partment of Biomedical Sciences, Oakland University,
Auburn Hills, Michigan; Director, Fellowship in Vitreoreti- Anne B. Fulton, MD Associate Professor, Ophthalmology,
nal Diseases, Department of Ophthalmology, William Beau- Harvard Medical School; Senior Associate in Ophthalmology,
mont Hospital, Royal Oak, Michigan Ophthalmology, Children’s Hospital, Boston, Massachusetts
Cynthia de Almeida Carvalho Recchia, MDDepartment of Zein Ghassan, MD Senior Ophthalmic Specialist, Head
Ophthalmology and Visual Sciences, Vanderbilt University of the Department of Ophthalmology, Ahmadi Hospital,
Medical Center, Nashville, Tennessee Ahmadi, Kuwait
Marsha C. Cheung, MD Ophthalmology Resident, Depart- Clare Gilbert, MB, ChB, FRCOphth, MD, MScSenior Lec-
ment of Ophthalmology, University of California at San turer, Clinical Research Unit, London School of
Francisco, San Francisco, California Hygiene and Tropical Medicine, London, England
ix
x Hartnett: Pediatric Retina
Ronald M. Hansen, PhDInstructor, Ophthalmology, Har- Michael Marble, MDAssociate Professor of Clinical Pedi-
vard Medical School; Research Associate, Ophthalmology, atrics, Department of Pediatrics, Louisiana State University
Children’s Hospital, Boston, Massachusetts Health Sciences Center; Clinical and Biochemical Geneti-
cist, Division of Clinical Genetics, Children’s Hospital of
Mary Elizabeth Hartnett, MD, FACS Associate Professor New Orleans, New Orleans, Louisiana
of Ophthalmology, Department of Ophthalmology, Uni-
versity of North Carolina School of Medicine, Chapel Hill, Janet R. McColm, PhD Research Associate, Ophthalmol-
North Carolina ogy, University of North Carolina, Chapel Hill, North
Carolina
G. Baker Hubbard, III, MD Assistant Professor of Oph-
thalmology, The Emory Eye Center, Emory University Viktória Mester, MD Consultant Vitreoretinal Surgeon,
School of Medicine, Atlanta, Georgia Mafraq Hospital, Abu Dhabi, United Arab Emirates; Chair-
man, Hungarian Eye Injury Registry
Lea Hyvärinen, MD Apollonkatu 6 A 4, FIN-00100
HELSINKI, Finland P. Anthony Meza, MDHead Section of Pediatric Anesthe-
siology, Department of Anesthesiology, William Beaumont
Bronya J.B. Keats, PhD Professor and Chair, Department Hospital, Royal Oak, Michigan
of Genetics, Louisiana State University Health Sciences
Robert Morris, MDPresident, International Society of Oc-
Center, New Orleans, Louisiana
ular Trauma, Associate Professor of Ophthalmology, Uni-
John B. Kerrison, MDAssistant Professor, Department of versity of Alabama at Birmingham; President, Helen Keller
Ophthalmology, Neurology, and Neurosurgery, Johns Foundation for Research and Education, Birmingham,
Hopkins University School of Medicine, Baltimore, Alabama
Maryland
Raghu C. Murthy, MDClinical Instructor, Retina Service,
Ferenc Kuhn, MD, PhDDirector of Clinical Research, He- Casey Eye Institute, Oregon Health Sciences University;
len Keller Foundation for Research and Education, Presi- Portland, Oregon
dent, United States Eye Injury Registry, Associate Professor
of Clinical Ophthalmology, University of Alabama at Birm- Natalie Nguyen, BA VMR Institute, Huntington Beach,
ingham, Birmingham, Alabama; Visiting Professor, Depart- California
ment of Ophthalmology, University of Pécs, Pécs, Hungary
Joan M. O’Brien, MD Associate Professor, Department
Leila Kump, MD Clinical Fellow, Medical Retina and of Ophthalmology, University of California, San Fran-
Uveitis Service, National Eye Institute, National Institutes cisco; Associate Professor, Director of Ocular Oncology
of Health, Bethesda, Maryland Oph thalmology, UCSF Medical Center, San Francisco,
California
Baruch D. Kuppermann, MD, PhDAssociation Professor
of Ophthalmology, Department of Ophthalmology, Uni-
Kean T. Oh, MD Assistant Professor, Department of
versity of California, Irvine, Irvine, California
Ophthalmology, University of North Carolina, Chapel
Hill, North Carolina; The Retina Eye Center, Augusta,
John I. Loewenstein, MDAssistant Professor, Department
Georgia
of Ophthalmology, Harvard Medical School; Surgeon, De-
partment of Ophthalmology, Massachusetts Eye and Ear
Infirmary, Boston, Massachusetts Anup Parikh BS Doris Duke Medical Resaearch Fellow,
University of North Carolina (Medical Student), Chapel
Ian M. MacDonald, MD, CM Professor and Chairman, Hill, North Carolina
Department of Ophthalmology, University of Alberta;
Chairman, Department of Ophthalmology, Royal Alexan-
Franco M. Recchia, MD Assistant Professor, Vanderbilt
dra Hospital, Edmonton, Canada,
Eye Institute, Vanderbilt University Medical Center,
Nashville, Tennessee
Albert M. Maguire, MD Associate Professor, Department
of Ophthalmology, University of Pennsylvania; Director,
Retina Service, Department of Ophthalmology, Scheie Joseph F. Rizzo, MD Associate Professor of
Eye Institute, University of Pennsylvania, Philadelphia, Ophthalmology, Harvard Medical School; Massachusetts
Pennsylvania Eye and Ear Infirmary, Boston, Massachusetts