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Ординатура / Офтальмология / Английские материалы / Handbook of Pediatric Eye and Systemic Disease_Wright, Spiegel, Thompson_2006

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Handbook 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)

9 8 7 6 5 4 3 2 1

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

v

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

Contributors . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

ix

1

Embryology . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

1

 

Cynthia S. Cook, Kathleen K. Sulik, and

 

 

Kenneth W. Wright

 

2

Breaking the News: The Role of the Physician . . .

62

 

Nancy Chernus-Mansfield

 

3

Chromosomal Anomalies and the Eye . . . . . . . . .

76

 

J. Bronwyn Bateman

 

4

Craniofacial Syndromes and Malformations . . . . .

146

 

Marilyn T. Miller and Anna Newlin

 

5

Connective Tissue, Skin, and Bone Disorders . . . .

227

 

Elias I. Traboulsi

 

6

Neurocutaneous Syndromes . . . . . . . . . . . . . . . . .

291

 

Maria A. Musarella

 

7

Metabolic Diseases . . . . . . . . . . . . . . . . . . . . . . . .

350

 

Lois J. Martyn

 

8

Selected Genetic Syndromes with

 

 

Ophthalmic Features . . . . . . . . . . . . . . . . . . . . . .

430

 

Natalie C. Kerr and Enikö Karman Pivnick

 

 

 

vii

viii

CONTENTS

 

9

Infectious Diseases . . . . . . . . . . . . . . . . . . . . . . . .

483

 

R. Christopher Walton, Roger K. George, and

 

 

Alissa A. Craft

 

10 Ocular Manifestations of Inherited Diseases . . . . .

526

 

Maya Eibschitz-Tsimhoni

 

Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

611

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).

1

2HANDBOOK OF PEDIATRIC EYE AND SYSTEMIC DISEASE

Endometrial stroma

Maternal

sinusoid

Amnioblast

 

Amniotic

 

cavity

Blaminar embryo

Epiblast

 

Hypoblast

 

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

 

Primitive

Primitive

 

streak

 

streak

 

 

 

 

 

Hypoblast

Invaginating

 

 

B

epiblast cells

 

 

 

A

 

Ectoderm

 

 

 

Intraembryonic

Endoderm

 

 

mesoderm

 

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.