Pediatric Neuro-Ophthalmology

499 Pages·1996·16.38 MB·English

by  Michael C. Brodsky MD

Pediatric
Neuro
Ophthalmology
Springer
New York
Berlin
Heidelberg
Barcelona
Budapest
Hong Kong
London
Milan
Paris
Santa Clara
Singapore
Tokyo
Pediatric
Neuro
Ophthalmology
Michael C. Brodsky, MD
Associate Professor of Ophthalmology and Pediatrics
University of Arkansas for Medical Sciences, Jones Eye Institute
Chief of Pediatric Ophthalmology
Arkansas Children's Hospital
Little Rock, Arkansas
Robert S. Baker, MD
Chairman and Professor of Ophthalmology
Professor of Pediatrics, Neurosurgery, and Neurology
University of Kentucky Medical Center
Lexington, Kentucky
Latif M. Hamed, MD, FACS
Associate Professor of Ophthalmology and Pediatrics
Chief, Section of Pediatric Ophthalmology
University of Florida College of Medicine
Gainesville, Florida
Foreword by John Flynn, MD
, Springer
Michael C. Brodsky, MD Robert S. Baker, MD
University of Arkansas for Medical Sciences University of Kentucky
Little Rock, AR 72202-3591 Lexington, KY 40536-0284
USA USA
LatifM. Hamed, MD
University of Florida College of Medicine
Gainesville, FL 32610
USA
With 229 illustrations, 82 in full color
Library of Congress Cataloging-in-Publication Data
Brodsky, Michael c.,
Pediatric neuro-ophthalmology / Michael C. Brodsky, Robert S.
Baker, Latif M. Hamed.
p. cm.
Includes bibliographical references and index.
ISBN 0-387-94464-8 (alk. paper)
1. Pediatric neuro-ophthalmology. I. Baker, Robert S. II. Hamed,
Latif M. III. Title
[DNLM: 1. Eye Diseases-in infancy & childhood. 2. Eye Diseases
etiology 3. Nervous System Diseases-in infancy & childhood.
4. Nervous System Diseases-complications. WW 600 B864p 1995]
RE725.B76 1995
618.92'0977-dc20 95-16249
Printed on acid-free paper.
© 1996 Springer-Verlag New York, Inc.
Softcover reprint of the hardcover 1st edition 1996
All rights reserved. This work may not be translated or copied in whole or in part without
the written permission of the publisher (Springer-Verlag New York, Inc., 175 Fifth Avenue,
New York, NY 10010, USA), except for brief excerpts in connection with reviews or schol
arly analysis. Use in connection with any form of information and retrieval, electronic
adaptation, computer software, or by similar or dissimilar methodology now known or
hereafter developed is forbidden.
The use of general descriptive names, trade names, trademarks, etc., in this publication,
even if the former are not especially identified, is not to be taken as a sign that such names,
as understood by the Trade Marks and Merchandise Marks Act, may accordingly be used
freely by anyone.
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.
Production coordinated by Impressions, a division of Edwards Brothers, Inc. and managed
by Bill Imbornoni; manufacturing supervised by Joe Quatela.
Typeset by Impressions, a division of Edwards Brothers, Inc., Madison, WI.
987654321
ISBN-13: 978-1-4613-8459-5 e-ISBN-13: 978-1-4613-8457-1
DOl: 10.1007/978-1-4613-8457-1
Foreword
In today's world, an increasing number of voices ask, in at times querulous
tones, where is medicine going and why? Perhaps no more succinct statement of
the goal of our art and science can be found than words spoken in 1952 by No
bel laureate MacFarlane Burnet:
The aim of medicine in the broadest sense is to provide for every human being, from
conception to death, the greatest fullness of health and length of life that is allowed by
his genetic constitution and by the accidents of life.
From the standpoint of the reader, this book documents progress in a field of
medical research that indeed fulfills that goal in the sense of Burnet's thoughtful
analysis. Progress in our understanding of the basic mechanisms of human ner
vous system development in its broadest context and its derangements-as well
as our ability to use this information clinically-has been little short of astound
ing. This is nowhere more apparent than in the development of the visual system
on its sensory and motor side. Though this has not always resulted in immediate
therapeutic successes in the treatment of the many maladies that affect the vi
sual system, particularly during its protean developmental phase, it has provided
the ample infrastructure of basic knowledge that necessarily precedes such treat
ment breakthroughs. An apt analogy might be that of our understanding of hu
man cancer, where huge advances are coming in avalanche fashion today. The
groundwork for this progress was laid by painstaking and careful research in
such disparate fields as cell biology and energetics, molecular genetics, pharma
cology, epidemiology and the like, begun decades ago. Today we witness the
coming together of the hard-won knowledge in all these disciplines in a coher
ent story and an enhanced understanding of cancer biology that is revolutionary.
And we are indeed its benefactors. In like fashion, the many fields encompassed
by the generic term neurosciences, from developmental embryology to neural
imaging and neuropharmacology, are laying the groundwork for the break
throughs in understanding, treatment, and, most importantly, prevention sure to
come in the subject areas of this text.
In this work, the authors have more than filled a void long empty at the inter
face between pediatric and neuro-ophthalmology. They have created a new
sense of the essential unity shared by the two disciplines as concerns the visual
development of the child. This book is an expression of esteem, dedication, and,
yes, love for their specialty on the part of the authors. This is not a book for the
v
vi Foreword
beginner. It takes no shortcuts, makes no sacrifices of rigor for simplicity, and
spares us no detail that will illuminate our understanding of the nuance and vari
ety of the entities it covers in its 11 chapters. In contrast to the multi authored
compendia that comprise today's encyclopedic texts in medicine, the work
clearly reflects the distinctive approaches of the three authors to their subject.
This does produce a bit of redundancy but leaves one with the sense of having
viewed the topic from many different perspectives, thereby deepening and ex
panding one's appreciation of its many sides. It was a delight for this reader to
encounter the many facets of optic nerve development and disease in Chapters
2, 3, and 4 and hear again echoes of these discussions in Chapter 1 and again in
Chapter 5. The redundancy I find not at all boring, but enriching. Nor do they
slight the basic sciences and their clinical contributions to our current under
standing of, for example, the metabolic derangements leading to the spectrum of
the storage diseases. On still another level, each author provides for the reader
the algorithms that constitute his clinical approach to a given problem, say vi
sualloss or nystagmus. For the physician, whatever hislher level of skill and ex
pertise, trainee to consultant, this too is an asset. One may differ with the au
thors' approach, but it is there, clearly spelled out in the text together with the
reasons behind their choices. I may not always agree with the intensity of the
workup that they propose for an entity such as a hypoplastic optic nerve in an
otherwise healthy infant, based on my experience with it over the decades, yet
the text makes me fully aware of what I may be overlooking in so choosing.
It is not within the purview of my task to play the role of a reviewer and dis
sect the text chapter by chapter. Others much more astute and knowledgeable
than I will do this. Rather, I see it as my responsibility to put the work in per
spective for the reader-to-be. One can approach this book "cover to cover," as
the small cadre of physicians with the special interest and expertise in the area
will probably do. They will be rewarded for the effort with a truly encyclopedic
coverage of their subject, likely to remain the reference standard for the coming
years. For the physician with a more general background and specific need, the
approach will likely be patient and problem oriented, and the volume serves this
use as well. The bibliography is selective and remarkably up-to-date, reaching
back to cite seminal works from the past as well as current citations in fast
changing fields as neurochemistry and molecular genetics.
In closing, it is both a joy and a privilege to provide a foreword to this book. I
have learned immensely from it.
John T. Flynn, MD
Miami, Florida
February 1995
Preface
The developing brain is at once inherently vulnerable and uniquely resilient in
its response and adaptation to neurological injury. It is for this reason that neu
rological diseases in children differ in their clinical presentation, natural history,
prognosis, and treatment response from similar injuries to the mature brain. This
book was borne out of the recognition that ophthalmologists, neurologists, neu
rosurgeons, pediatricians, and orthoptists frequently encounter children with
complex neuro-ophthalmologic disorders and would be well-served by a book
covering various aspects of the discipline. Readers with an interest in pediatric
neuro-ophthalmology must currently consult an array of textbooks in order to
piece together answers to complex clinical questions. In this book, we have tried
to accomplish the somewhat contradictory task of providing a clinical manual
that is readily applicable to the child who is sitting in the examining chair, while
offering a thoughtful analysis of each condition in light of current information.
In so doing, we hope to provide the clinician with the insight needed to offer an
accurate prognosis and treatment and thereby empower the clinician to provide
appropriate support and guidance to the families of these children.
The evolution of pediatric neuro-ophthalmology as a discipline represents the
confluence of a number of rapidly evolving fields, including neuroimaging, neu
rology, neurosurgery, neuropharmacology, genetics, and pediatrics. The unspo
ken goal of researchers in pediatric neuro-ophthalmology is to someday unite
strabismus, amblyopia, and congenital nystagmus with the myriad other neuro
ophthalmologic disorders discusses in this book into one conceptual framework.
Rapid advances in our understanding of the neuroanatomical and neurocellular
substrates of strabismus and amblyopia will hopefully enable future editions of
this book to accomplish this goal.
In this decade, which has been dubbed the decade of the brain, many of the
disorders discusses in this book that have heretofore been untreatable may be
come treatable as advances occur in genetic therapy, neuron rescue, and preven
tative medicine. Twenty years from now, the analysis contained herein may be
considered as merely an attempt to define the problem.
Michael C. Brodsky, MD
Robert S. Baker, MD
Latif M. Hamed, MD
Vll
Acknow ledgments
The authors express their deep gratitude to the following individuals for their
help and guidance in the preparation of this book: Frederick A. Boop, MD, Ed
ward G. Buckley, MD, James C. Corbett, MD, Lou Dell'Osso, PhD, Gerald M.
Fenichel, MD, Kathleen M. Fitzgerald, PhD, Katherine J. Fritz, CO, Charles M.
Glasier, MD, May Griebel, MD, William V. Good, MD, Creig S. Hoyt, MD,
William F. Hoyt, MD, James E. Jan, MD, Stephen P. Kraft, MD, Mark 1. Kuper
smith, MD, Burton J. Kushner, MD, Scott R. Lambert, MD, Patrick 1. Lavin,
MD, Nancy 1. Newman, MD, Stephen C. Pollock, MD, Valerie Purvin, MD,
Gregory B. Sharp, MD, Richard A. Saunders, MD, Charles Teo, MD, and Rus
sell Walker, MD.
ix
Contents
Foreword by John T. Flynn, MD ............................. v
Preface ............................................... vii
Acknowledgments ....................................... ix
1 The Apparently Blind Infant ............................. 1
2 Congenital Optic Disc Anomalies ........................ 42
3 The Swollen Optic Disc in Childhood ..................... 76
4 Optic Atrophy in Children ............................. 125
5 Transient, Unexplained, and Psychogenic
Visual Loss in Children .............................. 164
6 Ocular Motor Nerve Palsies in Children .................. 201
7 Complex Ocular Motor Disorders in Children .............. 251
8 Nystagmus in Infancy and Childhood .................... 302
9 Torticollis and Head Nodding .......................... 350
10 Neuro-Ophthalmologic Manifestations of
Neurodegenerative Disease in Childhood ................. 369
11 Neuro-Ophthalmologic Manifestations of
Systemic and Intracranial Disease ....................... 399
Index ................................................ 467
xi
1
The Apparently Blind Infant
Introduction grasp of the various clinical entities that may cause
an infant to act blind to formulate a list of differen
Visual unresponsiveness in an otherwise healthy in tial diagnoses. The correct diagnosis may then be
fant is an alarming finding. Parents are understand reached using a thoughtful diagnostic paradigm to
ably anxious and inquisitive about the cause, work up such patients (Figure 1.1).
severity, and prognosis of the condition. Depend Important clues to the cause of blindness in an in
ing upon the underlying cause, the visual outcome fant may be derived from various aspects of the
may range from normal vision to complete blind ophthalmologic evaluation. Congenital nystagmus
ness. The importance of establishing an accurate is absent in children with cortical visual loss but is a
diagnosis in this setting is obvious. common feature in those with congenital ocular or
Decreased vision in infancy is generally due to anterior visual pathway disorders. It is now well
developmental malformations or acquired lesions established that the majority of patients with con
of the eyes, anterior visual pathways, or posterior genital nystagmus have underlying visual sensory
visual pathways. Some causes involving ocular disorders,71,n even when the eyes appear to be
structures will be readily identifiable on careful structurally normaP28 It should be emphasized that
eye examination (e.g., cataracts, corneal opacities, the clinical appearance and the electro-oculographic
refractive errors). However, most congenital reti waveforms of congenital nystagmus are identical
nal dystrophies (e.g., Leber congenital amaurosis whether or not a sensory deficit is detectable. The
(LCA), congenital stationary night blindness term "congenital" nystagmus is a misnomer, since
(CSNB), achromatopsia) lack conspicuous oph the nystagmus is usually first noted between 8 and
thalmoscopic signs in early infancy and necessi 12 weeks of age.112 If damage to ocular or anterior
tate electroretinography to establish the diagnosis. visual pathway structures occurs postnatally, the
Neurological visual impairment (e.g., cortical vi nystagmus appears about 1 month after visual loss
sual impairment (CVI)) can also be suspected and only develops when the visual loss occurs prior
clinically but requires neuroimaging to confirm. to 2 years of age. During the first 2 months of life,
Mentally retarded or autistic children may appear the absence of nystagmus (in infants who will sub
visually unresponsive despite intact visual path sequently acquire it) eliminates an important diag
ways. However, physically or mentally disabled nostic clue in differentiating an anterior visual path
children may also have occult ophthalmologic dis way disorder from lesions of the posterior pathway.
orders that are difficult to diagnose because of their This distinction becomes especially important when
disability.62 The diagnosis of disorders causing vi dealing with ocular conditions that show minimal
sual disability in infants and children depends first ophthalmoscopic signs in early infancy (e.g., LCA)
and foremost on a pertinent clinical history and a or at any age (e.g., achromatopsia, CSNB).
thorough examination. The information thus ob Infants with nystagmus due to anterior visual
tained should enable a clinician with a thorough pathway abnormalities typically have certain