Ординатура / Офтальмология / Английские материалы / Handbook of Pediatric Eye and Systemic Disease_Wright, Spiegel, Thompson_2006
.pdfHandbook of Pediatric
Eye and Systemic
Disease
Handbook of Pediatric
Eye and Systemic
Disease
Edited by
Kenneth W. Wright, MD
Director, Wright Foundation for Pediatric Ophthalmology Director, Pediatric Ophthalmology, Cedars-Sinai Medical Center, Clinical Professor of Ophthalmology, University of Southern California—Keck School of Medicine, Los Angeles, California
Peter H. Spiegel, MD
Focus On You, Inc., Palm Desert, California
Inland Eye Clinic, Murrieta, California
Children’s Eye Institute, Upland, California
Lisa S. Thompson, MD
Attending Physician, Stroger Hospital of Cook County,
Chicago, Illinois
Illustrators
Timothy C. Hengst, CMI
Susan Gilbert, CMI
Faith Cogswell
Kenneth W. Wright, MD |
Peter H. Spiegel, MD |
Director, Wright Foundation for |
Focus On You, Inc. |
Pediatric Ophthalmology |
Palm Desert, CA |
Director, Pediatric Ophthalmology, |
Inland Eye Clinic, |
Cedars-Sinai Medical Center, |
Murrieta, CA |
Clinical Professor of |
Children’s Eye |
Ophthalmology, University of |
Institute |
Southern California—Keck School |
Upland, CA |
of Medicine |
USA |
Los Angeles, CA |
|
USA |
|
Lisa S. Thompson, MD |
|
Attending Physician |
|
Stroger Hospital of Cook County |
|
Chicago, IL |
|
USA |
|
Library of Congress Control Number: 2005932934
ISBN 10: |
0-387-27927-X |
e-ISBN 0-387-27928-8 |
ISBN 13: |
978-0387-27927-5 |
|
Printed on acid-free paper.
© 2006 Springer Science+Business Media, Inc.
Reprinted from Wright and Spiegel: Pediatric Ophthalmology and Strabismus, second edition, copyright 2003 Springer Science+Business Media.
All rights reserved. This work may not be translated or copied in whole or in part without the written permission of the publisher (Springer Science+Business Media, Inc., 233 Spring Street, New York, NY 10013, USA), except for brief excerpts in connection with reviews or scholarly analysis. Use in connection with any form of information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed is forbidden. The use in this publication of trade names, trademarks, service marks, and similar terms, even if they are not identified as such, is not to be taken as an expression of opinion as to whether or not they are subject to proprietary rights.
While the advice and information in this book are believed to be true and accurate at the date of going to press, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein.
Printed in the United States of America. |
(BS/EVB) |
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springer.com
Preface
Pediatric ophthalmology is a broad field encompassing many diverse topics including embryology, chromosomal abnormalities, neurology, crainio-facial abnormalities, systemic diseases, retina disease, and strabismus. This variety makes pediatric ophthalmology interesting and intellectually stimulating, but at the time somewhat daunting. The handbook series is designed to give the practitioner an easy to understand, succinct yet detailed reference on various subjects related to pediatric ophthalmology.
The Handbook of Pediatric Eye and Systemic Disease is a practical resource on the diagnosis and management of eye disorders associated with pediatric systemic disease. A concise but comprehensive description of ocular manifestations of pediatric systemic disease is presented. These chapters are designed to be reader-friendly. They are organized with clear sub-headings that allow the readers to quickly find their area of interest such as systemic characteristics, ocular findings, or treatment. Excellent color photographs and diagrams illustrate the clinical points and help with disease recognition. Extensive use of tables and information boxes simplify and summarize complex topics. Each chapter is fully referenced to provide evidence-based practice guidelines and further in-depth reading. The last chapter is a compendium of hundreds of systemic diseases and chromosomal abnormalities that affect the eye. In this compendium are thorough lists of both systemic and ocular findings for each disease. This is an excellent aid to diagnosing syndromes based on the characteristics of the eye abnormality.
Another important use of the Handbook of Pediatric Eye and Systemic Disease is patient and family education. Parents are rightfully concerned about the effects of systemic disease on their child’s eyes. Information, including diagrams and photographs from the handbook about the eye manifestations of
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vi |
PREFACE |
systemic disease, can be shared with the families. This important information is often lacking in general texts on ophthalmology and pediatrics.
I hope you will find the Handbook of Pediatric Eye and Systemic Disease to be an invaluable adjunct to your pediatric practice.
Kenneth W. Wright, MD
Contents
Preface . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . |
v |
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Contributors . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . |
ix |
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1 |
Embryology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . |
1 |
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Cynthia S. Cook, Kathleen K. Sulik, and |
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Kenneth W. Wright |
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2 |
Breaking the News: The Role of the Physician . . . |
62 |
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Nancy Chernus-Mansfield |
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3 |
Chromosomal Anomalies and the Eye . . . . . . . . . |
76 |
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J. Bronwyn Bateman |
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4 |
Craniofacial Syndromes and Malformations . . . . . |
146 |
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Marilyn T. Miller and Anna Newlin |
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5 |
Connective Tissue, Skin, and Bone Disorders . . . . |
227 |
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Elias I. Traboulsi |
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6 |
Neurocutaneous Syndromes . . . . . . . . . . . . . . . . . |
291 |
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Maria A. Musarella |
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7 |
Metabolic Diseases . . . . . . . . . . . . . . . . . . . . . . . . |
350 |
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Lois J. Martyn |
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8 |
Selected Genetic Syndromes with |
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Ophthalmic Features . . . . . . . . . . . . . . . . . . . . . . |
430 |
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Natalie C. Kerr and Enikö Karman Pivnick |
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vii |
viii |
CONTENTS |
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9 |
Infectious Diseases . . . . . . . . . . . . . . . . . . . . . . . . |
483 |
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R. Christopher Walton, Roger K. George, and |
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Alissa A. Craft |
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10 Ocular Manifestations of Inherited Diseases . . . . . |
526 |
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Maya Eibschitz-Tsimhoni |
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Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . |
611 |
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Contributors
J. Bronwyn Bateman, MD
Nancy Chernus-Mansfield, MA
Cynthia S. Cook, DVM, PhD
Alissa A. Craft, MD
Maya Eibschitz-Tsimhoni
Roger K. George, MD
Natalie C. Kerr, MD, FACS, FAAP
Lois J. Martyn, MD
Marilyn T. Miller, MD
Maria A. Musarella, MD
Anna Newlin, MS, CGC
Enikö Karman Pivnick, MD
Kathleen K. Sulik, PhD
Elias I. Traboulsi, MD
R. Christopher Walton, MD
Kenneth W. Wright, MD
ix
1
Embryology
Cynthia S. Cook, Kathleen K. Sulik, and
Kenneth W. Wright
DIFFERENTIATION OF GERM LAYERS AND EMBRYOGENESIS
After fertilization of the ovum within the uterine tube, cellular mitosis results in formation of a ball of 12 to 16 cells, the morula. A fluid-filled cavity within this embryonic cell mass forms, resulting in a transformation into a blastocyst that begins to penetrate the uterine mucosa on approximately the sixth day postfertilization. The cells of the blastocyst continue to divide with the cells of the future embryo proper (embryoblast) accumulating at one pole. The cells of the primitive embryoblast differentiate into two layers, the epiblast and the hypoblast. These two cellular layers bridge the central cavity of the blastocyst, thus dividing the blastocyst into the amniotic cavity and the yolk sac (Fig. 1-1).
During the third week of gestation, the two-layered embryoblast transforms into a trilaminar embryo as central epiblast cells invaginate between the epiblast and hypoblast layers. Invagination of central epiblast cells creates a longitudinal groove through the midline of the caudal half of the epiblast, the primitive streak. This invagination of epiblast cells is termed gastrulation (Fig. 1-2A,B). Invaginating epiblast cells differentiate to form the mesodermal germ layer, which spreads out to fill the space between the epiblast and hypoblast. Gastrulation proceeds in a cranial to caudal progression and continues through the fourth week of human gestation. These invaginating epiblast cells displace the hypoblast cells to form the endoderm. The epiblast cells therefore give rise to all three definitive germ layers: ectoderm, mesoderm, and endoderm (Fig. 1-2C).
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2HANDBOOK OF PEDIATRIC EYE AND SYSTEMIC DISEASE
Endometrial stroma
Maternal
sinusoid
Amnioblast |
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Amniotic |
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cavity |
Blaminar embryo |
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Epiblast |
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Hypoblast |
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Endoderm
Extraembryonic coelom
Exocoelomic Extraembryonic membrane
somatopleuric mesoderm
FIGURE 1-1. Drawing of a human blastocyst (12 days gestation) that has penetrated the maternal endometrium. An embryoblast has formed that consists of two cell layers: the epiblast above and the hypoblast below.
Amniotic cavity
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Primitive |
Primitive |
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streak |
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streak |
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Hypoblast |
Invaginating |
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B |
epiblast cells |
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A |
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Ectoderm |
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Intraembryonic |
Endoderm |
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mesoderm |
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C
FIGURE 1-2A–C. (A) Drawing of a 17-day-old embryo in gastrulation stage (dorsal view) with the amnion removed. (B) Cross section of a 17-day-old embryo through the primitive streak. The primitive streak represents invagination of epiblast cells between the epiblast and hypoblast layers. Note the epiblast cells filling the middle area to form the mesodermal layer. (C) Cross section of the embryo at the end of the third week shows the three definitive germ layers: ectoderm, mesoderm, and endoderm.
