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COLOR ATLAS & SYNOPSIS OF Clinical Ophthalmology Pediatric Ophthalmology Wills Eye Hospital THIRD EDITION Christopher J. Rapuano SERIES EDITOR

EDITOR Leonard B. Nelson

SECTION EDITORS Michael J. Bartiss Caroline DeBenedictis Kammi B. Gunton Kara C. LaMattina Judith B. Lavrich Karen E. Lee Jade M. Minor Scott E. Olitsky Bruce M. Schnall Aldo Vagge Barry N. Wasserman Alison Watson

Wills Eye Hospital COLOR ATLAS & SYNOPSIS OF Clinical Ophthalmology Pediatric Ophthalmology THIRD EDITION

EDITOR Leonard B. Nelson, MD, MBA Director, Strabismus Center Co-Director, Pediatric Ophthalmology and Ocular Genetics Wills Eye Hospital Associate Professor of Ophthalmology and Pediatrics Jefferson Medical College of Thomas Jefferson University Philadelphia, Pennsylvania

SECTION EDITORS Michael J. Bartiss, OD, MD Caroline DeBenedictis, MD Kammi B. Gunton, MD Kara C. LaMattina, MD Judith B. Lavrich, MD Karen E. Lee, MD Jade M. Minor, MD Scott E. Olitsky, MD Bruce M. Schnall, MD Aldo Vagge, MD, PhD Barry N. Wasserman, MD Alison Watson, MD

SERIES EDITOR Christopher J. Rapuano, MD

Director and Attending Surgeon, Cornea Service Co-Director, Refractive Surgery Department Wills Eye Hospital Professor of Ophthalmology Sidney Kimmel Medical College at Thomas Jefferson University Philadelphia, Pennsylvania Copyright © 2024 Wolters Kluwer, Inc. Unauthorized reproduction of the content is prohibited.

Wills Eye Hospital COLOR ATLAS & SYNOPSIS OF Clinical Ophthalmology Pediatric Ophthalmology THIRD EDITION

Acquisitions Editor: Chris Teja Development Editor: Eric McDermott Editorial Coordinator: Preethi Krishnan Marketing Manager: Kirsten Watrud Production Project Manager: Alicia Jackson Manager, Graphic Arts & Design: Stephen Druding Manufacturing Coordinator: Lisa Bowling Prepress Vendor: S4Carlisle Publishing Services Third Edition Copyright © 2025 Wolters Kluwer.

Copyright © 2019 Wolters Kluwer. Copyright © 2012 by Lippincott Williams & Wilkins, A Wolters Kluwer business. All rights reserved. This book is protected by copyright. No part of this book may be reproduced or transmitted in any form or by any means, including as photocopies or scanned-in or other electronic copies, or utilized by any information storage and retrieval system without written permission from the copyright owner, except for brief quotations embodied in critical articles and reviews. Materials appearing in this book prepared by individuals as part of their official duties as U.S. government employees are not covered by the above-mentioned copyright. To request permission, please contact Wolters Kluwer at Two Commerce Square, 2001 Market Street, Philadelphia, PA 19103, via email at permissions@lww.com, or via our website at shop.lww.com (products and services). 9 8 7 6 5 4 3 2 1 Printed in the United States of America

Library of Congress Cataloging-in-Publication Data ISBN-13: 978-1-975214-90-6 ISBN-10: 1-975214-90-0 Library of Congress Control Number: 2024934236

This work is provided “as is,” and the publisher disclaims any and all warranties, express or implied, including any warranties as to accuracy, comprehensiveness, or currency of the content of this work. This work is no substitute for individual patient assessment based upon healthcare professionals’ examination of each patient and consideration of, among other things, age, weight, gender, current or prior medical conditions, medication history, laboratory data and other factors unique to the patient. The publisher does not provide med ical advice or guidance and this work is merely a reference tool. Healthcare professionals, and not the publisher, are solely responsible for the use of this work including all medical judgments and for any resulting diagnosis and treatments.

Given continuous, rapid advances in medical science and health information, independent professional verifica tion of medical diagnoses, indications, appropriate pharmaceutical selections and dosages, and treatment options should be made and healthcare professionals should consult a variety of sources. When prescribing medication, healthcare professionals are advised to consult the product information sheet (the manufacturer’s package insert) accompanying each drug to verify, among other things, conditions of use, warnings and side effects and identify any changes in dosage schedule or contraindications, particularly if the medication to be administered is new, infrequently used or has a narrow therapeutic range. To the maximum extent permitted under applicable law, no responsibility is assumed by the publisher for any injury and/or damage to persons or property, as a matter of products liability, negligence law or otherwise, or from any reference to or use by any person of this work. shop.lww.com Copyright © 2024 Wolters Kluwer, Inc. Unauthorized reproduction of the content is prohibited.

To my wife, Helene, for her understanding, patience, and support. To my children, Jen, Kim, and Brad, who have taught me what is important in life. To my sons-in-law, Josh and Justin, and daughter-in-law, Julie, who all embody the meaning of family. To my grandsons, Jake, Ryan, Brandon, Joey, and Jordan, and granddaughters, Lily, Chloe, and Rosie, who never cease to amaze me. And to the memory of several individuals who passed away recently and who had a profound effect on my personal and professional life: Dean Henry S. Coleman, whose extraordinary guidance through my college years at Columbia University fine-tuned my future goals. A. Stone Freedberg, MD, who was instrumental in my matriculating and succeeding as a medical student at Harvard Medical School. Marshall M. Parks, MD, who taught me pediatric ophthalmology and whose skills in all aspects of the subspecialty I have always tried to emulate.

Editors

SERIES EDITOR Christopher J. Rapuano, MD Director and Attending Surgeon, Cornea Service Co-Director, Refractive Surgery Department Wills Eye Hospital Professor of Ophthalmology Sidney Kimmel Medical College at Thomas Jefferson University Philadelphia, Pennsylvania

Contributors

Michael J. Bartiss, OD, MD Private Practice Family Eye Care of the Carolinas Aberdeen, North Carolina Director of NICU Eye Services FirstHealth of the Carolinas Pinehurst, North Carolina Caroline DeBenedictis, MD Attending Department of Pediatric Ophthalmology Wills Eye Hospital Clinical Instructor Department of Ophthalmology Thomas Jefferson University Hospital Philadelphia, Pennsylvania Anuradha Ganesh, MD Senior Consultant Department of Ophthalmology Sultan Qaboos University Hospital Muscat, Oman Debra A. Goldstein, MD, FRCSC Professor of Ophthalmology Department of Ophthalmology Northwestern University Feinberg School of Medicine Chicago, Illinois Kammi B. Gunton, MD Chief Pediatric Ophthalmology Department of Pediatric Ophthalmology Wills Eye Hospital Philadelphia, Pennsylvania

Kara C. LaMattina, MD Assistant Professor Department of Ophthalmology Chobanian and Avedisian School of Medicine Boston, Massachusetts

Judith B. Lavrich, MD Assistant Clinical Professor

Department of Pediatric Ophthalmology and Adult Thomas Jefferson University, Wills Eye Hospital Philadelphia, Pennsylvania Karen E. Lee, MD Resident Physician Department of Ophthalmology University of North Carolina Kittner Eye Center Chapel Hill, North Carolina Alex V. Levin, MD, MHSc Chief, Pediatric Ophthalmology and Ocular Genetics; Chief, Clinical Genetics Flaum Eye Institute, Golisano Children’s Hospital University of Rochester Rochester, New York Maureen Lloyd, MD Physician Pediatric Ophthalmology Wills Eye Hospital Philadelphia, Pennsylvania Jade M. Minor, MD Physician Pediatric Ophthalmology and Adult Strabismus Wills Eye Hospital Philadelphia, Pennsylvania

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viii Contributors

Leonard B. Nelson, MD, MBA Director, Strabismus Center Co-Director, Pediatric Ophthalmology and Ocular Genetics Wills Eye Hospital Associate Professor of Ophthalmology and Pediatrics Jefferson Medical College of Thomas Jefferson University Philadelphia, Pennsylvania Scott E. Olitsky, MD, MBA Professor Emeritus Ophthalmology University of Missouri—Kansas City School of Medicine Kansas City, Missouri Rebecca Procopio, MS, CGC Philadelphia, Pennsylvania Bruce M. Schnall, MD Associate Surgeon Pediatric Ophthalmology and Strabismus Wills Eye Hospital Philadelphia, Pennsylvania Emily Schnall Graphic Artist Voorhees, New Jersey Carol L. Shields, MD Director, Ocular Oncology Service Wills Eye Hospital Genetic Counselor Wills Eye Hospital

Jake A. Sussberg Student Research Intern

Tobin B. T. Thuma, DO Resident Physician

Department of Ophthalmology Weill Cornell Medical College New York, New York Anya Trumler-Sebring, MD Doctor of Medicine Pediatric Ophthalmologist Charlotte Eye Ear Nose and Throat

Mooresville, North Carolina Aldo Vagge, MD, PhD Ophthalmologist, Professor at University of Genoa Department of DiNOGMI IRCCS Ospedale Policlinico San Martino Genova, Italy Barry N. Wasserman, MD Associate Professor of Ophthalmology Pediatric Ophthalmology and Strabismus Wills Eye Hospital Pennsylvania, Pennsylvania Alison Watson, MD, FACS Attending Surgeon Oculoplastic and Orbital Surgery Wills Eye Hospital Philadelphia, Pennsylvania

About the Series

T he beauty of the atlas/synopsis concept is the powerful combination of illustrative photographs and a summary approach to the text. Ophthalmology is a very visual discipline that lends itself wonderfully to clinical photographs. Whereas the seven ophthalmic subspecialties in this series—Cornea, Retina, Glaucoma, Oc uloplastics, Neuro-ophthalmology, Uveitis, and Pediatrics—employ varying levels of visual rec ognition, a relatively standard format for the text is used for all volumes.

The goal of the series is to provide an up-to-date clinical overview of the major areas of ophthalmology for students, residents, and practitioners in all the health care professions. I am confident that the abundance of large, excellent-quality photographs (both in print and online) and concise, outline-form text will help achieve that objective.

Christopher J. Rapuano, MD Series Editor

Preface

W ills Eye Hospital has been my “ac ademic home” for over 40 years. During that time, I have witnessed remark able changes in pediatric ophthalmology as it has become a more established and rapidly expanding subspecialty. Although many changes have occurred at Wills over those years, certain things have remained constant, including the outstanding fac ulty, fellows, residents, and staff, as well as the commitment to excellent patient care and academic endeavors. Wills is a rich storehouse of clinical material and has pro vided the major background for this book. In particular, the Pediatric Ophthalmology and Ocular Genetics Department at Wills, which cares for thousands of children each year, provides a rare opportunity for the study of an extremely wide variety of pediat ric ocular disorders. It has been a pleasure to oversee the production of this book because

each contributor has been part of the “Wills family.” The advances that have occurred in the understanding of pediatric ocular disease and newer modalities of treatment require a constant updating of knowledge about these conditions. This text was written in an effort to provide practicing ophthalmologists, pediat ric ophthalmologists, and residents in training with a concise update of the clinical findings and the most recent treatment available for a wide spectrum of childhood ocular diseases. The disorders are grouped according to the specific ocular structure involved. The atlas format should provide readers with a clear and succinct outline of the disease entities and stimulate a more detailed pursuit of the spe cific ocular disorders. Leonard B. Nelson Editor

Acknowledgments

I t is with pleasure and gratitude that I ac knowledge a number of individuals who helped make this publication possible. I ap preciate the members of the Audio-Visual De partment at Wills Eye Hospital, Roger Barone and Jack Scully, who helped in the prepara tion of many of the photographs. I am grate ful to Katurrah Hayman for her exceptional

secretarial skills. I am indebted to Eric McDermott, the developmental editor, for his continuous suggestions and help throughout the prepara tion of this book, as well as the editorial coor dinators, Venugopal Loganathan and Preethi Krishnan. Finally, I wish to thank all the au thors who gave of their time, unselfishly, in the writing of this book.

Contents

Editors vi Contributors vii About the Series ix Preface x Acknowledgments xi

Chapter 1 The Economic and Workforce Issues in Pediatric Ophthalmology and Its Significant Effect on Access to Eye Care 2 Karen E. Lee, Tobin B. T. Thuma, Jake A. Sussberg, and Leonard B. Nelson Where the Economic and Workforce Issues In Pediatric Ophthalmology Began 2 Access to Eye Care 3

Enhancing Ophthalmology Residents’ Interest In the Field 3 The Inundation of Academic Eye Centers/Children’s Hospitals 4 The Medicaid Dilemma 4 Potential Solutions 5 Chapter 2 Abnormalities Affecting the Eye as a Whole 8 Judith B. Lavrich and Karen E. Lee Anophthalmia 8

Microphthalmia 14 Nanophthalmia 18 Typical Coloboma 20 Chapter 3 Congenital Corneal Opacity 24

Bruce M. Schnall, Rebecca Procopio, and Maureen Loyd Sclerocornea 24 Birth Trauma: Tears in Descemet Membrane 26 Ulcer or Infection 28 Mucopolysaccharidosis 30 Peters Anomaly 32 Congenital Hereditary Endothelial Dystrophy 34 Corneal Dermoid 36 Anterior Staphyloma 38 Wilson Disease (Hepatolenticular Degeneration) 40 Herpes Simplex Infection 42 Herpes Simplex Virus Epithelial Dendrite or Ulceration 44

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Contents xiii

Herpes Simplex Virus Corneal Stromal Disease 46 Herpes Zoster Ophthalmicus 48 Chickenpox 50 Limbal Vernal Keratoconjunctivitis 52

Chapter 4 Glaucoma 54

Jade M. Minor, Anya Trumler-Sebring, and Alex V. Levin Primary Congenital Glaucoma 54 Juvenile Open-Angle Glaucoma 58 Glaucoma Following Cataract Surgery 60 Uveitic Glaucoma 62 Sturge-Weber Syndrome 66 Congenital Ectropion Uveae 70 Aniridia 72 Posterior Embryotoxon 74 Maureen Lloyd and Bruce M. Schnall Central Pupillary Cysts (Pupillary Margin Epithelial Cysts) 76 Aniridia 78 Brushfield Spots 80 Ectopia Lentis Et Pupillae 82 Heterochromia Iridis 84 Iris Coloboma 86 Iris Stromal Cysts 88 Juvenile Xanthogranuloma 90 Lisch Nodules 92 Melanosis Oculi (Ocular Melanocytosis) 94 Persistent Pupillary Membrane 96 Posterior Synechiae 98 Axenfeld-Rieger Anomaly 100 Iris Flocculi 102 Iris Mammillations 104

Chapter 5 Iris Anomalies 76

Chapter 6 Lens Anomalies 106 Caroline DeBenedictis

Congenital and Developmental Cataracts 106 Ectopia Lentis 110

xiv Contents

Chapter 7 Pediatric Uveitis 118

Kara C. LaMattina and Debra A. Goldstein Introduction 118 Juvenile Idiopathic Arthritis 118 Tubulointerstitial Nephritis and Uveitis 124 Blau Syndrome/Early-Onset Sarcoidosis 126 Postinfectious Autoimmune Uveitis 130 Traumatic Uveitis 130 Herpesviridae 132 Pars Planitis 134 Toxoplasmosis 136

Toxocariasis 140 Tuberculosis 142 Idiopathic Uveitis 142 Masquerades 143 Chapter 8 Congenital Abnormalities of the Optic Nerve 144

Aldo Vagge and Leonard B. Nelson Optic Nerve Hypoplasia 144 Morning Glory Disc Anomaly 148 Optic Disc Coloboma 150 Optic Disc Pits 152 Tilted Disc Syndrome 154 Peripapillary Staphyloma 156 Optic Disc Drusen (Pseudopapilledema) 156

Chapter 9 Retinal Anomalies 160 Best Disease 160 Barry N. Wasserman and Alex V. Levin Choroideremia 164 Barry N. Wasserman and Alex V. Levin Gyrate Atrophy 166 Barry N. Wasserman

Leber Congenital Amaurosis 168 Barry N. Wasserman and Alex V. Levin Astrocytic Hamartoma 170 Anuradha Ganesh and Alex V. Levin Incontinentia Pigmenti 172 Anuradha Ganesh and Alex V. Levin Coats Disease 176 Barry N. Wasserman and Carol L. Shields Retinoblastoma 180 Carol L. Shields Copyright © 2024 Wolters Kluwer, Inc. Unauthorized reproduction of the content is prohibited.

Contents xv

Congenital Hypertrophy of the Retinal Pigment Epithelium 186 Anuradha Ganesh and Alex V. Levin Familial Exudative Vitreoretinopathy 188

Anuradha Ganesh and Alex V. Levin Persistent Fetal Vasculature 192 Barry N. Wasserman and Alex V. Levin Juvenile Retinoschisis 196 Barry N. Wasserman and Alev V. Levin Retinopathy of Prematurity 198 Anuradha Ganesh and Barry N. Wasserman Retinitis Pigmentosa 202 Barry N. Wasserman and Alex V. Levin Myelinated Nerve Fibers 204 Barry N. Wasserman Stargardt Disease/Fundus Flavimaculata 206 Barry N. Wasserman and Alex V. Levin 206

Chapter 10 Eyelid Anomalies 210 Kammi B. Gunton and Alison Watson

Ankyloblepharon Filiforme Adnatum 210 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome 212

Childhood Ectropion 214 Childhood Entropion 216

Congenital Ptosis 218 Eyelid Colobomas 220 Epiblepharon 222 Epicanthus 224 Capillary Hemangiomas 226 Chapter 11 Lacrimal Anomalies 228

Bruce M. Schnall, Leonard B. Nelson, and Emily Schnall Congenital Nasolacrimal Duct Obstruction 228 Dacryocele 234 Lacrimal Fistula 238

Chapter 12 Strabismus Disorders 240 Scott E. Olitsky and Leonard B. Nelson Pseudoesotropia 240

Congenital (Infantile) Esotropia 241 Inferior Oblique Overaction 244 Dissociated Vertical Deviation 246

Refractive Accommodative Esotropia 248 Nonrefractive Accommodative Esotropia 250

xvi Contents

Nonaccommodative or Partially Accommodative Esotropia 250 Congenital Exotropia 251 Intermittent Exotropia 252 A- and V-Pattern Strabismus 254

Third Nerve Palsy 258 Fourth Nerve Palsy 260 Sixth Nerve Palsy 262 Duane Syndrome 264 Brown Syndrome 266 Möbius Syndrome 268 Monocular Elevation Deficiency 270 Congenital Fibrosis of the Extraocular Muscles 272

Index 274

Wills Eye Hospital COLOR ATLAS & SYNOPSIS OF Clinical Ophthalmology Pediatric Ophthalmology THIRD EDITION

CHAPTER

Abnormalities Affecting the Eye as a Whole 2 ■ Judith B. Lavrich and Karen E. Lee

ANOPHTHALMIA A nophthalmia , also known as anophthal mos, is a congenital anomaly that is char acterized by the complete absence of ocular tissue within the orbit. It is a leading cause of congenital blindness. Anophthalmia has a prev alence of 0.18 per 10,000 births and has no ra cial or sexual predilection. The majority of cases are bilateral, reported between 53% and 71%. Classification depends on the stage at which failure of development occurs: ● Primary or true anophthalmia is a very rare condition with complete absence of the lens, optic nerves, and chiasma due to failure of formation of the optic pit and outgrowths from the forebrain. ● Secondary anophthalmia occurs when de velopment of the eye begins but gets arrested due to an insult during development in utero, resulting in only residual eye tissue or ex treme microphthalmos. ● Degenerative anophthalmia occurs due to lack of blood supply or other causes leading to formation of the optic vesicle but subsequent halt in growth.

Etiology During embryogenesis, there is an arrest in the development of the neuroectoderm of the pri mary optic vesicle, which stems from the ante rior neural plate of the neural tube. Anophthalmia is most frequently idio pathic and sporadic but can be inherited as a dominant, recessive, or sex-linked trait. It is associated with maternal infections during pregnancy (e.g., toxoplasmosis, ru bella, cytomegalovirus, and varicella) as well as syndromes with craniofacial mal formations (e.g., Goldenhar, Hallermann- Streiff, and Waardenburg syndromes). Non infectious causes such as maternal vitamin A deficiency, exposure to x-rays during gesta tion, abuse of solvent inhalers, and toxicity from thalidomide, warfarin, and alcohol have also been postulated. It is linked with genetic defects, including trisomies 13, 14, and 15; chromosomal deletion in band 14q22-23, also known as Frias syndrome, which is character ized by anophthalmia associated with pitu itary and hand/foot abnormalities. There are multiple gene mutations that can result in anophthalmia. SOX2 is the most com mon, accounting for up to 40% of all cases.

ANOPHTHALMIA 9

Diagnostic Evaluation ● Anomalous eyelid and orbital features ( Fig. 2-1 ) ● Ultrasound imaging: B-scan ultrasonogra phy of the orbit will show a complete absence of the globe. After 22 weeks’ gestation, trans vaginal ultrasonography can detect eye mal formations, but its sensitivity in the detection of anophthalmia is not known. ● Magnetic resonance imaging (MRI) of the head and orbits: MRI will show the soft tissue within the orbital cavity ( Fig. 2-2 ). Associated intracranial abnormalities can also be evaluated. Individuals with bilateral anophthalmos may have a related hypoplastic or absent optic chiasm as well as agenesis or dysgenesis of the corpus callosum. ● Computed tomography (CT) scan of the head and orbits: CT scan will image the bony changes and intracranial and craniofacial ab normalities seen with anophthalmia. ■ Early socket expansion is important to minimize facial deformities and can be started within weeks of life. Orbital con formers can be placed in the orbital cavity to stimulate growth of the bony orbit ( Fig. 2-3 ). As the orbit grows, the con formers are changed and progressively in creased in size to further expand the orbital cavity. This serial augmentation takes time and cooperation from both the patient and the parents. ■ Contraction and reversal of the benefit often occur if the conformer is left out of the orbit for a significant amount of time. With unilateral anophthalmos, the family should be aware that, most likely, the final result will not mirror the normal healthy orbit. ■ An ocular prosthesis can be fitted over the conformer to simulate the eye and im prove appearance. Treatment ● Medical care

Mutations in SOX2 can disrupt formation of tis sues and organs during embryonic development. RBP4 has also been linked to an autosomal dom inant form of anophthalmia, for which mutations during pregnancy predispose the fetus to vitamin A deficiency. OTX2 , CHX10 , and RAX muta tions can lead to failure of retinal differentiation and may result in anophthalmia. BMP4 has been linked to anophthalmia, microphthalmia, and myopia. Other influential genes known to im pact anophthalmia include CHX10 , RAX , PAX6 , STRA6 , VAX1 , FOXE3 , BMP4 . Symptoms ● Unilateral or bilateral blindness because of the absence of the globe(s) Signs ● The eye is the stimulus for proper growth of the orbital region; therefore, an infant born with anophthalmia has the following: ● Orbital findings ■ Small orbital rim and entrance ■ Reduced size of bony orbital cavity ■ Globe is completely absent. ■ Extraocular muscles are usually absent. ■ Lacrimal gland and ducts may be absent. ■ Small or maldeveloped optic foramen ● Eyelid findings ■ Narrow palpebral fissures ■ Foreshortening of the eyelids ■ Shrunken conjunctival fornices ■ Levator function is decreased or absent with poor eyelid folds. ■ Contracture of the orbicularis oculi muscle Differential Diagnosis ● Microphthalmos ● Cryptophthalmos: abnormal fusion of the en tire eyelid margin with absence of the eyelashes ● Cystic eye: a cyst of neuroglial tissue lack ing normal ocular structures

10 2 Abnormalities Affecting the Eye as a Whole

■ After initial socket expansion during the first 5 years of life, the socket and pros thetic will require examination yearly. ● Surgical care ■ Because the foreshortening of the eyelids may limit the passage of a large conformer, a lateral canthotomy or cantholysis may be needed to increase the horizontal length of the palpebral fissure. Other methods to lengthen the eyelids may include skin, mucosal, or cartilage grafts. ■ Injectable calcium hydroxylapatite (Radiesse) is a semipermanent dermal filler that has been reported as a new, simple, cost-effective technique to treat volume deficiency in the anophthalmic orbit in adults. Augmentation is accomplished with serial injections of the filler until adequate volumization is achieved. The results have shown lasting effect in the orbit of ≥ 1 year. ■ The small bony cavity is a cosmetic de formity and may not allow proper fitting of a prosthesis. Therefore, surgery may be indicated for either of these problems. ■ Hydrogel (methyl methacrylate and N -vinylpyrrolidone) expanders are self-expanding hydrophilic expanders that are implanted in the orbital tissue in their dry, contracted state through a small incision. They are made from the same material as con tact lenses and scleral buckles. The implant gradually expands in size by osmotic absorp tion of surrounding tissue fluid. The benefit of this method is the controlled self-expansion, reducing the risk of tissue atrophy, without the need for repeat fittings or surgery. ■ Inflatable tissue expanders are used if con formers are not well tolerated or cannot be fit. The inflatable silicone expander is a dynamic implant composed of a bladder and injection port. The expander is surgically positioned deep in the orbit and fixated to the bone, usu ally in the periosteal space of the orbit, and the injection port is usually placed in the tempora lis fossa. The expander is filled with saline and gradually reinflated on a weekly or biweekly schedule. Compared with solid conformers,

inflatable expanders may allow more rapid and extensive expansion of the bony orbit, but injections may be painful for the patient. The inflated chamber can also exert significant pressure on the surrounding tissue, leading to tissue atrophy, erosions, or extrusion of the im plant. When the desired volume is achieved, the port and bladder need to be removed and replaced with a permanent implant. ■ Dermal fat grafting is a dynamic implant using biocompatible grafts that grows slowly over time and can be a good option to restore volume to the hypoplastic orbit. The graft is harvested from a second surgical site, typi cally the buttocks. However, the graft com patibility and growth can be variable. In some cases, the fat can atrophy. Rarely, the fat can hypertrophy, which necessitates debulking. ■ Orbitocranial advancement surgery is used for orbital expansion if conformers and expanders are unsuccessful. This method involves multiple osteotomies to divide the periocular bones and advancing them forward and outward with bone grafts and plates. Prognosis ● Severe cosmetic deformities can result from anophthalmia, especially if not treated early. Even with proper treatment, the results are often cosmetically suboptimal, with incom plete expansion of the orbit, malformations and immobility of the eyelids, and complete immobility of the ocular prosthesis. ● The patient may need considerable input and services from multiple pediatric specialists due to associated systemic abnormalities including hypothalamic-pituitary disturbances, develop mental delay, renal hypoplasia, and heart defects. ● Psychosocial issues caused by absence of an eye and facial disfigurement can result. Referral for psychological counseling may be indicated for these children. ● Early vision support services to help the child and family negotiate visual impairment and work to integrate the child into society and ready them for school.

ANOPHTHALMIA 11

REFERENCES

congenital anophthalmos and microphthalmos at a tertiary eye hospital. Orbit . 2019;38(3): 192-198. Kallen B, Robert E, Harris J. The descriptive epide miology of anophthalmia and microphthalmia. Int J Epidemiol . 1996;25(5):1009-1016. Verma AS, Fitzpatrick DR. Anophthalmia and mi crophthalmia. Orphanet J Rare Dis . 2007;2:47. Williamson KA, FitzPatrick DR. The genetic archi tecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet . 2014;57(8):369-380.

Bardakiian T, Weiss A, Schneider AS. Anophthalmia/ microphthalmia overview. In: Pagon RA, Bird TC, Dolan CR, Stephens K, eds. GeneReviews . University of Washington; 2007:1993-2004. Bernardino R. Congenital anophthalmia: a review of dealing with volume. Middle East Afr J Oph thalmol . 2010;17(2):156-160. Galindo-Ferreiro A, Elkhamary SM, Alhammad F, et al. Characteristics and management of

FIGURE 2-1. Anophthalmia. A. External examination of bilateral anophthalmia. B. Clinical examination of bilateral anophthalmia showing empty orbits. (Courtesy of Leonard B. Nelson, MD.)

12 2 Abnormalities Affecting the Eye as a Whole

FIGURE 2-2. Anophthalmia. Magnetic resonance image showing unilateral anophthalmia with absence of the globe. (Courtesy of Carol Shields, MD.)

ANOPHTHALMIA 13

FIGURE 2-3. Anophthalmia. Fitting orbital conformers in bilateral “clinical anophthalmia” (severe microphthal mia). (Courtesy of Bruce Schnall, MD.)

14 2 Abnormalities Affecting the Eye as a Whole

MICROPHTHALMIA M icrophthalmia is a congenital unilat eral or bilateral condition in which the globe has a reduced axial length that is at least 2 standard deviations below the mean for age. The reported incidence is estimated at 0.2 to 1.7 per 100,000. Microphthalmia is more commonly bilateral and, in these cases, is more likely to have systemic involvement. The appearance of the globe and the severity of axial length reduction define the classifica tion of microphthalmia: ● Simple or pure microphthalmia: an eye that is anatomically intact except for its short axial length. Simple microphthalmia is suspected in the presence of high hyperopia ( ≥ 8 diop ters) or microcornea. Visual loss can occur in a subset of microphthalmos associated with posterior segment abnormalities. ● Severe microphthalmia: an eye that is se verely reduced in size, with an axial length of < 10 mm at birth or < 12 mm after age 1 year and a corneal diameter of < 4 mm ( Fig. 2-4 ). The globe may be inconspicuous on clinical examination, but remnants of ocular tissue, an optic nerve, and extraocular muscles will be seen with imaging. ● Complex microphthalmia: a globe with reduced size associated with developmental ocular malformations of the anterior or poste rior segment (or both) There are two types of microphthalmos: noncolobomatous and colobomatous (micro phthalmos with cyst) ( Fig. 2-5 ). The prev alence of microphthalmia is 1.5 per 10,000 births. There is no racial or sexual predilection. Etiology Microphthalmia results from an arrest in the development at any stage during the growth of the optic vesicle. ● Environmental: prenatal exposure of alco hol, thalidomide, retinoic acid, or rubella

● Heritable: via autosomal dominant, reces sive, or X-linked inheritance ■ Multiple chromosomal abnormalities ■ Single-gene disorders causing syndromic microphthalmia (e.g., CHARGE [ c olo boma of the eye or central nervous system anomalies, h eart defects, a tresia of the choanae, r etardation of growth or devel opment, g enital or urinary defects, and e ar anomalies or deafness]; Lenz microph thalmia; Goltz, Aicardi, Walker-Warburg, and Meckel-Gruber syndromes, Norrie disease; incontinentia pigmenti) ■ Bilateral severe cases are more likely to have an identifiable genetic cause grouped into autosomal dominant ( SOX2 , OTX2 , BMP4 , PAX6 , CHD7 , and TFAP2A ), auto somal recessive ( RAX , FOXE3 , STRA6 , and SMOC1 ), or X-linked inheritance ( BCOR ). ● Unknown causes: Goldenhar syndrome; cases associated with basal encephalocele and other central nervous system anomalies Symptoms ● The extent of visual loss depends on the severity of the microphthalmos and the pres ence of related anomalies. Signs Significant variability exists, depending on the severity of the microphthalmos. ● Orbital findings ■ Small orbital rim and entrance ■ Reduced size of bony orbital cavity ■ Globe is extremely small and can be malformed. ■ Extraocular muscles are present but can be hypoplastic. ■ Lacrimal gland and ducts are present but can be hypoplastic. ■ Optic nerve can be hypoplastic. ■ Small or maldeveloped optic foramen

MICROPHTHALMIA 15

● Eyelid findings ■ Narrow palpebral fissures

correct refractive error to aid in visual devel opment and achieve visual potential. ● Treatment of amblyopia: patching of the healthy eye to stimulate as much potential vision as possible ● Protection of the healthy eye in children with unilateral involvement ● Visual aids and other visual resources for children with reduced vision ● Orbital conformers: placed over the mi crophthalmic eye to stimulate growth of the bony orbit. These can be painted or with the pupil left clear for vision. ● Ocular prosthesis: can be fitted over the globe to improve appearance, if needed ● Microphthalmia with cyst is often treated after age 5 to allow time for the cyst to expand within the orbit. When the orbit reaches ~90% of adult volume, surgical excision can be performed. Prognosis ● For severe microphthalmia, the prognosis is the same as for anophthalmia. ● For simple microphthalmia, the visual prog nosis depends on the severity of the condi tion and the associated ocular abnormalities.

■ Foreshortening of the eyelids ■ Shrunken conjunctival fornices ■ Levator function is decreased or absent with poor eyelid folds. ■ Contracture of the orbicularis oculi muscle Differential Diagnosis ● Microcornea with a normal-sized globe ● High hyperopia Diagnostic Evaluation ● Anomalous eyelid and orbital features ● Clinical examination looking for evidence of a cornea or globe ■ Palpation of the orbit to estimate globe size ■ Measurement of corneal diameter (nor mal range, 9.0-10.5 mm in neonates) ● B-scan ultrasonography to evaluate the in ternal structures of the globe ( Fig. 2-6B ) ● CT scan or MRI of the brain and orbits to evaluate the size of the globe and its inter nal structures, the presence of optic nerve and extraocular muscles, and brain anatomy ( Fig. 2-6A,C ) Treatment ● For severe microphthalmia, the treatment is the same as for anophthalmia. ● For simple or complex microphthalmos with a functional eye, there may be a need to

REFERENCES

McLean CJ, Ragge NK, Jones RB, Collin JR. The management of orbital cysts associated with congenital microphthalmos and anophthalmos. Br J Ophthalmol . 2003;87(7):860-863. Verma AS, Fitzpatrick DR. Anophthalmia and mi crophthalmia. Orphanet J Rare Dis . 2007;2:47.

16 2 Abnormalities Affecting the Eye as a Whole

FIGURE 2-4. Microphthalmia. A. Unilateral microphthalmia. B. Severe microphthalmia.

MICROPHTHALMIA 17

FIGURE 2-5. Microphthalmia. Microphthalmia with a cyst. (Courtesy of Carol Shields, MD.)

Copyright © 2024 Wolters Kluwer, Inc. Unauthorized reproduction of the content is prohibited. FIGURE 2-6. Microphthalmia. A. Magnetic resonance image showing unilateral microphthalmia. Note the presence of extraocular muscles and an optic nerve. B. B-scan ultrasonography of microphthalmia with a cyst showing a posterior staphyloma. C. Computed tomography scan of microphthalmia with a cyst showing disorga nization of ocular tissues and posterior cyst. (Courtesy of Carol Shields, MD.)

18 2 Abnormalities Affecting the Eye as a Whole

NANOPHTHALMIA N anophthalmia is a subtype of simple micro phthalmia. It is a congenital and typically bilateral condition ( Fig. 2-7 ), although it can be unilateral. It is characterized by reduced globe vol ume, although the eye is otherwise grossly normal. Etiology ● Nanophthalmia results from an arrest in the growth of the eye during the embryonic stage and may result from a smaller optic vesicle anlage. ● Most cases are sporadic but both autosomal recessive and autosomal dominant inheri tance have been reported. Signs ● Reduced axial length of the globe ( < 20 mm) ● Very high hyperopia ( > 10 diopters) ● Reduced corneal diameter ● Lens is normal in size. ● Shallow anterior chamber ● Thick sclera ● Fundus may show crowded optic disc, vas cular tortuosity, and macular hypoplasia. ● Because of the anatomy, these eyes are at high risk for angle-closure glaucoma. They tolerate intraocular surgery poorly with a high rate of complications, including uveal effusion and retinal detachment. Differential Diagnosis ● High hyperopia in a normal eye Diagnostic Evaluation ● Measurement of corneal diameter ● A-scan to measure the axial length of the eye ● Pentacam and ultrasound biomicroscopy to image the anterior chamber and assess its depth ( Fig. 2-8 ) Treatment ● Glasses are needed to correct significant refractive error.

● Management of narrow-angle or angle-closure glaucoma is initially medical, although the response to treatment is typi cally poor, and miotics may even worsen the condition by relaxing the lens zonules. Pe ripheral laser iridotomy can relieve pupillary block and may be moderately successful. Laser trabeculoplasty, if performed, must be done early before anterior synechiae de velop and permanent damage to the outflow mechanism occurs. Iridoplasty, circumfer ential laser burns to the iris to contract the iris away from the anterior chamber angle, can further open the drainage angle. Cau tion must be used with fistulizing glaucoma surgery because postoperative malignant glaucoma can ensue. Because nanophthal mic eyes are more prone to significant post operative inflammation, steroids should be used judiciously. ● Removal of the lens must be anticipated and can be complicated by uveal effusion and nonrhegmatogenous retinal detachments. Although challenging in these high-risk eyes, small-incision cataract surgery is safe and diminishes the need for prophylactic sclerotomies. Prognosis ● The prognosis for vision is good if glau coma is treated early and successfully. Sharan S, Grigg JR, Higgins RA. Nanophthalmos: ultrasound biomicroscopy and Pentacam assess ment of angle structures before and after cata ract surgery. J Cataract Refract Surg . 2006;32(6): 1052-1055. Singh OS, Simmons RJ, Brockhurst RJ, Trempe CL. Nanophthalmos: a perspective on identification and therapy. Ophthalmology . 1982;89(9):1006-1012. Yalvac I, Satana B, Ozkan G, Eksioglu U, Duman S. Management of glaucoma in patients with nanophthalmos. Eye . 2008;22(6):838-843. REFERENCES

NANOPHTHALMIA 19

FIGURE 2-7. Bilateral nanophthalmia. Note the reduced corneal diameter.

Copyright © 2024 Wolters Kluwer, Inc. Unauthorized reproduction of the content is prohibited. FIGURE 2-8. Nanophthalmia. Ultrasound biomicroscopy of the anterior chamber in nanophthalmos. The iris is bowed forward, creating a plateau-like configuration of the narrow angle ( arrow ), and the anterior sclera ( arrowhead ) shows increased thickness. (Reprinted with permission from Buys YM, Pavlin CJ. Retinitis pigmentosa, nanophthal mos, and optic disc drusen: a case report. Ophthalmology . 1999;106:619-622.)

20 2 Abnormalities Affecting the Eye as a Whole

TYPICAL COLOBOMA T he term coloboma is derived from the Greek koloboma , meaning mutilated or curtailed. It is a congenital malformation and refers to a notch, gap, hole, or fissure in any of the ocular structures. Typical colobomas are frequently bilateral and are often associated with microphthalmia. Etiology ● “Typical” colobomata are caused by defec tive closure of the optic fissure during the fifth to seventh weeks of fetal life and because of the location of the fetal fissure and are found in the inferonasal quadrant in the eye. SHH , PAX2 , PAX6 , and VAX genes have been impli cated in optic fissure formation and closure. However, not all patients with mutations in these genes develop coloboma. (“Atypical” colobomata are less frequent malformations located outside the inferotemporal quadrant, for which the etiology is still unclear.) ● Most cases are idiopathic and sporadic, but all types of inheritance (i.e., autosomal dominant, autosomal recessive, and X-linked) have been reported and may be associated with various syndromes, such as CHARGE, Meckel-Gruber, Lenz microphthalmia, Aicardi, Patau, and Edwards syndromes. The preva lence of coloboma is 0.7 per 10,000 births. Signs ● Ocular colobomata may affect any of the structures or the entire globe traversed by the fetal fissure from the iris to the optic nerve. It has a variable appearance, depending on the extent and severity of the coloboma. ■ Iris: Complete iris coloboma presents as an inferonasal defect merging with the pupil seen as a “teardrop” pupil ( Fig. 2-9A ). Par tial iris coloboma can be seen as heterochro mia iridis, defects in the pigment epithelium, or transillumination defects. ■ Lens: inferior anomalies including ab normal shape/defect, flattening of lens or absence of lens zonules

■ Leukocoria: if the uveal defect is large ■ Optic nerve: enlarged, excavated, vertically oval; retinal vessels may radiate in a spoke like manner from the nerve ( Fig. 2-9B ). ■ Chorioretina: thinning of the choriocapil laris; pigment clumping along the line of op tic fissure closure; the colobomatous defect usually has sharp edges and is circumscribed by irregular pigmentation; a white sclera is seen through the defect if all layers of the chorioretina are absent; the floor of the de fect sometimes bulges, forming a staphyloma ( Figs. 2-9C to 2-9F ). ■ Globe: microphthalmia in some cases ■ Vision: ranges from normal to no light perception ● May be associated with a variety of other developmental defects Differential Diagnosis ● Atypical coloboma ● Retinal toxoplasmosis ● Optic nerve pits

● Morning glory syndrome ● Optic nerve hypoplasia Diagnostic Evaluation ● Clinical examination of the eye Treatment

● Glasses may be needed for any significant refractive error, which is frequently myopic. ● With optic nerve involvement, if unilateral, or bilateral and asymmetric, or with anisometro pia, patching for amblyopia may be necessary to stimulate as much potential vision as possible. ● Treat ocular complications: cataract, sub retinal neovascularization, and retinal breaks

or detachment Prognosis

● Vision depends on involvement of the optic nerve, macula, and papulomacular bundle. However, visual acuity cannot be predicted

TYPICAL COLOBOMA 21

from either coloboma size or optic nerve involvement because patients with large col obomata with optic nerve involvement can have almost normal vision.

Lingam G, Sen AC, Lingam V, Bhende M, Padhi TR, Xinyi S. Ocular coloboma—a comprehen sive review for the clinician. Eye (Lond) . 2021; 35(8):2086-2109. doi:10.1038/s41433-021- 01501-5 Onwochei BC, Simon JW, Bateman JB, et al. Ocu lar colobomata. Surv Ophthalmol . 2000;45(3): 175-194. Warburg M. Classification of microphthalmos and coloboma. J Med Genet . 1993;30(8):664-669. doi:10.1136/jmg.30.8.664

REFERENCES

Chang L, Blain D, Bertuzzi S, et al. Uveal coloboma: clinical and basic science update. Curr Opin Ophthalmol . 2006;17(5):447-470.

FIGURE 2-9. Coloboma. A. Iris coloboma (teardrop pupil). B. Normal optic nerve of the right eye and (C) coloboma involving the optic nerve of the left eye in the same patient.

22 2 Abnormalities Affecting the Eye as a Whole

FIGURE 2-9. ( continued ) D. Extensive optic nerve coloboma extending into the chorioretina. E. Chorioretinal coloboma extending into the optic nerve.

TYPICAL COLOBOMA 23

FIGURE 2-9. ( continued ) F. Extensive chorioretinal and optic nerve coloboma.

Ophthalmology

COLOR ATLAS & SYNOPSIS OF Clinical Ophthalmology Leonard B. Nelson, MD, MBA Pediatric Ophthalmology THIRD EDITION Wills Eye Hospital Developed at Philadelphia’s world-renowned Wills Eye Hospital, the Color Atlas and Synopsis of Clinical Ophthalmology series covers the most clinically relevant aspects of ophthalmology in a highly visual, easy-to-use format. Vibrant, full-color photos and a consistent outline structure present a succinct, high-yield approach to the seven topics covered by this popular series: C ornea, Retina, Glaucoma, Oculoplastics, Neuro-Ophthalmology, Pediatrics, and Uveitis. This in-depth, focused approach makes each volume an excellent companion to the larger Wills Eye Manual as well as a practical stand-alone reference for students, residents, and practitioners in every area of ophthalmology. The updated Pediatric Ophthalmology volume includes: • Expert, state-of-the-art guidance on the most commonly encountered pediatric ophthalmologic problems, ideal for practicing ophthalmologists, pediatric ophthalmologists, and residents. • A focus on recent treatment advances available for a wide spectrum of childhood ocular diseases. • More than 170 high-quality images that aid in visual diagnosis and treatment planning. • An easy-to-use format that covers Epidemiology and Etiology, History, Physical Examination, Differential Diagnosis, Laboratory and Special Examinations, Diagnosis, Prognosis, and Management. Enrich Your eBook Reading Experience • Read directly on your preferred device(s) , such as computer, tablet, or smartphone. • Easily convert to audiobook , powering your content with natural language text-to-speech. SERIES EDITOR Christopher J. Rapuano, MD

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