Handbook of Pediatric Eye and Systemic Disease PDF
Preview Handbook of Pediatric Eye and Systemic Disease
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 dis- similar 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 abnormali- ties, 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. TheHandbook of Pediatric Eye and Systemic Diseaseis a practical resource on the diagnosis and management of eye dis- orders 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 chromoso- mal 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 Diseaseis patient and family education. Parents are rightfully concerned about the effects of systemic disease on their child’s eyes. Information, including diagrams and photo- graphs from the handbook about the eye manifestations of v vi preface systemic disease, can be shared with the families. This impor- tant information is often lacking in general texts on ophthal- mology and pediatrics. I hope you will find the Handbook of Pediatric Eye and Systemic Diseaseto 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) accu- mulating at one pole. The cells of the primitive embryoblast dif- ferentiate into two layers, the epiblastand 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 embry- oblast 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 differenti- ate 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 invaginat- ing epiblast cells displace the hypoblast cells to form the endo- derm. The epiblast cells therefore give rise to all three definitive germ layers: ectoderm,mesoderm, andendoderm(Fig. 1-2C). 1
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