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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

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

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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.

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.


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

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



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


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

Professor of Ophthalmology Thomas Jefferson University 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



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



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.



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


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

Anterior Lenticonus 112 Posterior Lenticonus 114 Spherophakia 116

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

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


Congenital Abnormalities of the Optic Nerve 8 ■ Aldo Vagge and Leonard B. Nelson


carbamazepine, isotretinoin, phenytoin, quinine, and valproic acid. Young maternal age and maternal insulin-dependent diabetes have also been implicated in some cases (associated with subtype—superior segmen tal optic hypoplasia). Genetics ● Most cases are sporadic. ● Bilateral ONH is inherited in an autosomal dominant pattern based on the few families reported. Mutation in the PAX6 (11q13) gene is responsible. ● Mutation in the HESX1 gene has been identified in sporadic septo-optic dysplasia (SOD) and pituitary disease. ● Mutation in the TUBA8 gene is associated with polymicrogyria and ONH. Symptoms ● Decreased vision in one or both eyes ● Strabismus may be associated with unilat eral ONH. ● Color vision and other visual functions may remain unaffected.

● Optic nerve hypoplasia (ONH) is a congeni tal, nonprogressive developmental abnormality in which the optic nerve is smaller than usual because of reduced numbers of retinal ganglion cells. It is frequently associated with other cen tral nervous system (CNS) abnormalities. ● ONH may be unilateral or bilateral (80%) and may be asymmetric. ● Most common congenital optic disc anom aly. Accounts for up to 25% of children with significant congenital visual loss. The estimate prevalence is 1.5 per 10,000. ● Optic nerve aplasia is rare. No pupillary light reflex and absence of the optic disc, retinal nerve fiber layer (RNFL), and retinal blood vessels on examination Etiology ● Not completely understood ● Parental drug and alcohol abuse contrib utes to an increasing prevalence of ONH. Drug associations include exposure to

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Signs ● Range of visual acuity is 20/20 to no light perception since vision is determined pri marily by the integrity of the papillomacular nerve fibers more than the overall size of the disc. Visual acuity in affected subjects does not necessarily correlate with the size of the optic nerve head. ● Amblyopia as a result of accompanying stra bismus and anisometropia ● Nystagmus: often develops at 1 to 3 months of age in bilateral cases ● Strabismus may be associated with unilat eral ONH. ● Afferent pupil defect in asymmetric or uni lateral cases ● Visual fields (VFs) often have localized de fects as well as general constriction. ● Abnormally small optic nerve head, often gray or pale in color with “double-ring sign” (scleral canal surrounds a small optic nerve; Fig. 8-1 ) ● Superior segmental hypoplasia of the optic nerve is a segmental form of ONH occur ring in some children of insulin-dependent mothers. ● Retinal vascular tortuosity and a failure of the normal arcade pattern are important but inconsistent signs. ● Associated conditions may include the following: ■ ONH may be associated with other ocular disorders such as microphthalmia, aniridia, and albinism; systemic association especially with neurologic and endocrine anomalies and many syndromes. ■ Endocrine dysfunction: Approxi mately half of patients with ONH have hypopituitarism. Patients are at risk for hypothalamic and pituitary dysfunction such as growth hormone deficiency (most

common), hypothyroidism, hyperprolac tinemia, panhypopituitarism, and diabetes insipidus. ■ Neurologic anomalies are detected by neuroimaging in 60% of bilaterally affected patients and ~30% of unilateral ONH. Hy poplastic optic nerves and chiasm, cortical heterotopia, hydrocephalus, and absent or hypoplastic corpus callosum and absent septum pellucidum are the more common associated anomalies. ■ SOD is a less common finding, diag nosed with two or more of the following features: ONH, midline brain defects (such as agenesis of the corpus callosum and absence of the septum pellucidum) and pituitary hypoplasia. ■ Developmental delay more common in patients with bilateral ONH, highly cor related with corpus callosum hypoplasia and hypothyroidism Differential Diagnosis ● Optic nerve atrophy ● Optic nerve coloboma ● Tilted disc syndrome (TDS) ● Glaucoma Diagnostic Evaluation ● Optical coherence tomography (OCT) useful to evaluate thin nerve fiber and gan glion cell layers ● Ocular electrophysiology: Electroretino gram (ERG) finding is normal in ONH, visually evoked potentials (VEP) may be de layed in amplitude and implicit times. ● Magnetic resonance imaging (MRI) to rule out CNS malformations ● Pediatric endocrinologist referral is rec ommended. Pediatrician should follow up growth chart for endocrine changes. Undiag nosed endocrine deficiencies lead to risk of

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146 8 Congenital Abnormalities of the Optic Nerve

impaired growth, hypoglycemia, seizures, and death. Treatment ● No treatment available to improve the vi sion in ONH ● Correction of refractive errors ● Treatment for superimposed amblyopia ● Surgery for concurrent strabismus or nys tagmus may be considered.

● Consider polycarbonate eye glasses for pro tection of the better-seeing eye.

Prognosis ● Visual acuity is generally nonprogressive. Complications are, in general, related to en docrinopathies and CNS malformations. Al though rare, sudden death has been reported in ONH due to abnormalities in the cortico steroid hormonal axis.

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FIGURE 8-1. Optic nerve hypoplasia. Note the double-ring sign.

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148 8 Congenital Abnormalities of the Optic Nerve

MORNING GLORY DISC ANOMALY ● Morning glory disc anomaly (MGDA) is a rare, congenital, usually unilateral, funnel-like excavation of the posterior fundus that incor porates the optic disc. ● The name derives from the similarity to the morning glory flower. ● More common in females and rare in Afri can Americans Etiology ● The embryologic basis of MGDA is unclear. A defect in fetal fissure closure or a primary mesenchymal abnormality has been hypothe sized as embryonic origins of MGDA. Symptoms ● Visual acuity is usually poor, with only one-third achieving 20/40 or better. Signs ● Strabismus ● Leukocoria ● Amblyopia ● Myopia ● Afferent pupil defect may be present. ● The optic disc is markedly enlarged, orange or pink in color, with a surrounding annular ring of pigmented uveal tissues. Retinal ves sels increased in number emanate radially from the disc, a central white tuft of glial tissue. Macula may be incorporated into the excavation (macular capture) ( Fig. 8-2 ). ● Serous retinal detachment (RD) in one-third of patients ● Optic nerve calcifications and microphthal mos may be associated. ● Associated systemic conditions may in clude the following:

■ Transsphenoidal basal encephalocele as sociated with midfacial anomalies (hyper telorism, flat nasal bridge, midline notch in the upper lip, and sometimes a midline cleft in the soft palate) ■ Midline or other brain abnormalities (e.g., agenesis of the corpus callosum, pitu itary abnormalities) ■ Ipsilateral abnormalities of the carotid circulation such as stenosis or aplasia of the carotid arteries with or without Moyamoya syndrome (progressive stenosis of the ter minal portion of the internal carotid artery and its main branches) ■ Associated with ipsilateral orofacial hemangioma—this association may fall within the spectrum of the PHACE syn drome ( p osterior fossa malformation, large facial h emangioma, a rterial anomalies, c ar diac anomalies and aortic coarctation, and e ye anomalies). ■ Neurofibromatosis type 2 ■ MGDA has been described as part of the spectrum of papillorenal syndrome (PRN). Patients with PRN have renal hy poplasia and optic nerve dysplasia. Optic nerve malformations are similar to colo boma but share features of optic pit and MGDA. Renal pathology can lead to renal failure. Mutations in PAX2 cause the PRN and are autosomal dominant. Hearing loss can be present in 10% of patients (PAX2 is also involved in cochlear development). Differential Diagnosis

● Optic nerve coloboma ● Peripapillary staphyloma Diagnostic Evaluation

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● MRI and magnetic resonance angiography should be obtained to rule out brain and vas cular abnormalities.


Treatment ● No treatment available to improve the vi sion in MGDA ● Correction of refractive errors ● Treatment for amblyopia if associated

● RD is usually addressed with pars plana vitrectomy (PPV) and long-standing gas tamponade. Prognosis ● Vision is usually stable unless RD occurs.

FIGURE 8-2. Morning glory disc. Morning glory disc anomaly showing an enlarged excavation, abnormal ret inal vascular pattern, annular pigmentation surrounding the nerve head, and central glial tuft and peripapillary changes. (Courtesy of Alex V. Levin, MD, MHSc, Department of Pediatric Ophthalmology, Wills Eye Hospital, Philadelphia, PA.)

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150 8 Congenital Abnormalities of the Optic Nerve


Signs ● White, bowl-shaped excavation that occurs in an enlarged optic disc. The excavation is decentered inferiorly and the superior neu roretinal rim is relatively spared. In case of complete excavation of the entire disc, the excavation is deeper inferiorly. ● Chorioretinal coloboma can be associ ated—if so, microphthalmia is frequently present. ● Iris and ciliary body colobomas often coexist. ● Rhegmatogenous or serous RD may de velop in some patients—rhegmatogenous detachment is often associated with chorio retinal coloboma, whereas serous detachment is more common in case of isolated optic nerve coloboma. ● Associated conditions may include the following: ■ CHARGE association: coloboma, cho anal atresia, congenital heart disease, and multiple other abnormalities ■ Walker-Warburg syndrome ■ Goltz focal dermal hypoplasia ■ Aicardi syndrome ■ Goldenhar sequence ■ Linear sebaceous nevus syndrome ■ Dandy-Walker malformation ■ Renal coloboma syndrome—with a mu tation of PAX2 transcription ■ Microphthalmia—in case of chorioreti nal involvement Differential Diagnosis ● MGDA ● Peripapillary staphyloma

● Clearly demarcated bowl-shaped excava tion of the optic disc, which is typically de centered and deeper inferiorly ● Unlike the morning glory disc, it has no central glial tuft and the disc vasculature is usually normal. ● Unilateral and bilateral optic disc coloboma occurs with similar frequencies. ● Occasionally, involvement of the entire disc occurs. ● Other types of uveal coloboma can coexist. ● They may be isolated or part of a systemic ● Thought to result from incomplete or ab normal fusion of the two sides of the proximal end of the embryonic fissure ● Most cases are sporadic but may be au tosomal dominant, autosomal recessive, or X-linked recessive. ● A wide variety of mutations have been doc umented in patients with coloboma— CHD7 mutation is associated with 60% of cases of CHARGE ( c oloboma of the eye or central nervous system anomalies, h eart defects, a tre sia of the choanae, r etardation of growth or development, g enital or urinary defects, and e ar anomalies or deafness) syndrome. Symptoms ● Visual acuity may be mildly or severely decreased in one or both eyes—the degree of foveal involvement by the coloboma is the only feature that relates to visual outcome. syndrome. Etiology

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Diagnostic Evaluation ● OCT has been useful in observing the inter calary membrane that covers the chorioretinal defect and is continuous with the neural retina. ● A complete systemic evaluation is import ant to rule out other associated anomalies. Treatment ● No specific treatment is available for optic disc coloboma.

● Treatment for amblyopia, if associated ● Optimal refractive correction may be indicated. ● RD surgery as indicated Prognosis ● Vision is usually stable unless RD occurs.

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152 8 Congenital Abnormalities of the Optic Nerve


decades of life. When subretinal fluid is pres ent, visual acuity decreases to 20/40 to 20/60. Signs ● ODPs are usually seen as single, oval-shaped depressions at the optic disc. They are most commonly found at the inferotemporal aspect of the optic disc but may also be found else where, including centrally. Usually, they are gray, white, or yellowish in color ( Fig. 8-3 ). ● The signs associated with ODP maculop athy include intraretinal and subretinal fluid accumulation, and retinal pigment changes. ● Amblyopia in children especially in eyes with serous macular detachment ● Rarely associated with basal encephalocele Differential Diagnosis ● Optic disc anomalies such as choroidal and scleral crescent ● TDS ● Circumpapillary staphyloma ● Hypoplastic disc ● Glaucomatous optic neuropathy ● Central serous retinopathy and subretinal neovascular membranes for serous macular detachment Diagnostic Evaluation ● OCT to evaluate the subretinal fluid—typi cally, OCT may show a schisis-like separation between the inner and outer retina. ● VF—arcuate scotoma is most common. ● Intravenous fluorescein angiography (IVFA) is helpful in the differential diagnosis of serous detachment. ● Amsler grid can be used to monitor the macular involvement. Treatment ● No treatment is required for an isolated optic pit.

● Optic disc pit (ODP) is an oval or round excavation of variable color, depth, and loca tion in the optic disc. ● The temporal optic disc side is the most commonly involved. ● Often unilateral, although bilateral cases have been reported in 15% of the cases. ● Estimated frequency is < 1 in 10,000 people. Etiology ● It is not entirely clear—they are thought to result from an imperfect closure of the supe rior edge of the embryonic fissure. ● Histologically, an ODP is a herniation of the dysplastic retina into a collagen-rich ex cavation that extends into the subarachnoid space through a defect in the lamina cribrosa. ● The pathogenesis of the macular changes is still controversial—the fluid may be vitreous fluid, cerebrospinal fluid, leakage from blood vessels at the base of the pit, or leakage from the choroid. Also, serous macular detachment is caused by direct communication between the optic pit and the subretinal space or from the optic pit and retina. In the latter case, fluid may move into the retina, causing a schisis-like separation of the inner and outer layers, with the neurosensory serous RD oc curring secondary to this schisis. In addition, vitreous traction appears to be an important factor in the pathogenesis of optic pit–related macular detachment. ● ODPs are generally sporadic, although familial occurrence has been reported as a

dominant trait. Symptoms

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● Optic pits are asymptomatic unless there is subretinal fluid: ~50% of the eyes develop se rous macular detachment, especially with large temporal pits, usually in the second or third


● Treatment options include the following: ● Laser photocoagulation temporal to the disc area to create a barrier for fluid not to enter the macula. This approach has not had much success in most studies. ● PPV with or without internal limiting membrane (ILM) peel, with or without endo laser, and gas tamponade is the most common surgical option. ● PPV combined with inverted ILM flap to cover the optic disc and the ODP. It seems to be a good approach for the management of se rous macular detachment secondary to ODP. ● Gas tamponade injection with or without barrier laser at the temporal disc edge ● Macular buckle to promote reattachment of the macula via ab externo compression when

detachment involves the macula but techni cally challenging ● Inner retinal fenestrations to create passage for the fluid to travel to the vitreous Prognosis ● Isolated ODP has usually an excellent prognosis. ● Associated retinal complications such as se rous macular detachment can be progressive and significantly decrease visual acuity—ad vice patients about the importance of regular comprehensive eye examinations and the use of Amsler grid testing. ● Posterior macular reattachment can occur in rare instances.

FIGURE 8-3. Optic disc pit. Congenital pit of the optic nerve head.

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154 8 Congenital Abnormalities of the Optic Nerve


● Rare associations include transsphenoidal encephalocele, congenital tumors of the vi sual pathway, X-linked congenital stationary night blindness, Ehlers-Danlos syndrome, and familial dextrocardia. Differential Diagnosis ● ONH

● TDS is a congenital, nonhereditary, often bilateral condition where the optic nerve ap pears to enter the eye in an oblique angle. ● Prevalence in the general population is up to 3.5%. ● Elevated superior pole of the optic disc with posterior displacement of the inferior nasal disc, resulting in an oval appearance of the optic nerve head ● Often accompanied by the following: ■ Scleral crescent located inferiorly and inferonasally ( Fig. 8-4 ) ■ Situs inversus of retinal vessel ■ Posterior ectasia of the inferonasal retina and choroid ● Typically associated with axial high myopia Etiology ● Unknown, but may have some pathogenic relationship with colobomatous defect, with an incomplete closure of the embryonic fis sure of the eye. Symptoms ● Best corrected visual acuity (BCVA) may be reduced. Signs ● Myopia and astigmatism are very common. ● Tilted disc with associated features as previ ously described. ● Color vision alterations, chorioretinal thinning, and peripapillary atrophy may be associated. ● The most common VF defect is a scotoma in the superior temporal quadrant. ● Complications include parafoveal choroidal neovascularization (CNV) and serous macu lar detachment.

● Optic nerve coloboma ● Peripapillary staphyloma ● Papilledema Diagnostic Evaluation

● Refraction and dilated fundus examina tion—diagnosis can be made depending on the funduscopic appearance of the optic disc. ● OCT and MRI to show the various abnormalities in the optic nerve and shape of the eye ● VF often shows complete superior bitem poral defects that can cross the midline (unlike chasmal lesions). ● If TDS occurs concurrently with true chi asmal or glaucomatous disease, diagnostic challenges may be present. Treatment ● No medical treatment for the primary disorder ● Appropriate refractive error correction ● Amblyopia therapy as indicated may im prove nonorganic visual loss. Prognosis ● Broad range of BCVA ● Ocular complications such as chorioretinal degenerative changes, CNV and polypoidal choroidal vasculopathy, macular serous RD, myopic foveoschisis, and chorioretinal folds have been reported.

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FIGURE 8-4. Tilted disc. Note the temporal scleral crescent.

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156 8 Congenital Abnormalities of the Optic Nerve


Differential Diagnosis ● MGDA ● Optic disc coloboma ● TDS Diagnostic Evaluation

● Peripapillary staphyloma is a generally spo radic, rare, usually unilateral optic disc anom aly characterized by a deep excavation of the area of the fundus surrounding the optic disc. ● Optic disc head sits at the base of the poste rior pole excavation. ● Not associated with glial or vascular abnormali ties of the disc, uveal coloboma, and progression ● Affected eyes typically are emmetropic or slightly myopic, although high myopia has been reported. Etiology ● The etiology is unknown. It appears to arise as incomplete differentiation of sclera. Staphyloma may be the consequence of the development of normal intraocular pressure causing scleral herniation. Symptoms ● Visual acuity is usually mildly or severely reduced. Signs ● Peripapillary staphyloma is usually associ ated with a relatively normal appearance of the optic disc. ● Centrocecal scotomas commonly occur in eyes with decreased vision. ● Associated conditions may include the following: ■ Usually, absence of associated systemic abnormalities or intracranial diseases ■ Peripapillary staphyloma has been reported to be associated with basal encephalocele in patients with midfa cial abnormalities. PHACE syndrome, linear nevus sebaceous syndrome, and 18q-syndrome have been observed in asso ciation with peripapillary staphyloma. ■ Increased risk of RD

● Ocular ultrasound and ERG can help the diagnosis especially in pediatric patients. ● OCT can be used to evaluate a peripapillary staphyloma. ● VF can show a centrocecal scotoma, espe cially in eyes with decreased vision. ● MRI of the brain is indicated for children with midfacial abnormalities. Treatment ● No medical treatment for the primary disorder ● Amblyopia therapy and strabismus surgery as needed ● RD surgery as indicated ● Consider polycarbonate eye glasses. OPTIC DISC DRUSEN (PSEUDOPAPILLEDEMA) ● Optic disc drusen are acellular calcific de posits located within the optic nerve head. ● Optic drusen are typically buried in the optic disc early in life and become more su perficial later. ● Often bilaterally ● Most common form of pseudopapilledema— anomalous elevation of the optic disc unrelated to increased intracranial pressure Etiology ● The etiology is unknown—they are thought to result by a disturbance in axonal metabolism with slowed axoplasmic flow, Prognosis ● Risk of RD

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■ Space-occupying lesions have been har bored with optic disc drusen and progres sive visual loss. ■ Optic nerve drusen have been associated with retinitis pigmentosa, pseudoxan thoma elasticum and angioid streaks, and Alagille syndrome. Differential Diagnosis ● Optic neuritis ● Posterior scleritis ● Toxoplasmosis ● Idiopathic intracranial hypertension ● Ischemic optic neuropathy ● Compressive optic neuropathy ● Optic nerve infiltrates ● Papilledema ● Sarcoidosis ● Optic nerve tumors ● Leber hereditary optic neuropathy Diagnostic Evaluation ● B-scan ultrasonography: Drusen ap pear with high reflectivity and posterior shadowing. ● Fundus autofluorescence: Drusen display autofluorescence (poor reliability in buried drusen). ● Fluorescein angiography: drusen stain in late stage. Helpful to distinguish between op tic disc drusen and true optic disc edema ● OCT: focal hyperreflective mass posterior to the outer plexiform and outer nuclear lay ers, with loss of the inner and outer segment photoreceptor junction (poor reliability at distinguishing buried drusen vs. true optic disc edema). A decreased average RNFL is sugges tive of partial optic atrophy and the presence of VF defect. ● VF testing should be performed as soon as children can do so reliably. ● Orbital computed tomography (CT)— calcification in optic disc

congenitally dysplastic discs with a propen sity for drusen formation, or a small scleral canal that physically compresses the optic nerve, causing ganglion cell death, with extru sion and calcification of mitochondria. ● Optic drusen may be transmitted as an irregular dominant trait—they are frequently familial. Symptoms ● Usually asymptomatic with no visual complaints ● Rarely (especially in children) transient visual obscuration—probably secondary to transient disc ischemia Signs ● Disc is often elevated and its margins are blurred and obscured. ● Disc vessel is clearly visible, without hyperemia, dilated capillaries, or venous congestion. ● Absence of exudates and cotton wool spots ● Retinal vasculature of eyes is frequently anomalous—higher frequency of cilioretinal arteries ● Afferent pupillary defect and acquired dy schromatopsia may be present and they are signs of an optic neuropathy. ● VF can show peripheral defects that tend to increase in frequency with increasing age. The progression is generally slow. The most com mon VF defects are nasal defect, concentric constriction, and enlarged blind spot. ● Peripapillary or disc hemorrhage, choroidal neovascular membrane (CNVM), nonarteritic anterior ischemic optic neuropathy (NAION), and retinal artery or vein occlusion can be complications of optic disc drusen. ● Associated conditions may include the following: ■ Optic disc drusen have been reported in association with many ocular and systemic disorders.

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158 8 Congenital Abnormalities of the Optic Nerve

● MRI of the brain in any patient with associ ated progressive visual loss Treatment ● Drusen alone need no medical therapy. ● CNVMs may require laser photocoagula tion or intravitreal anti-vascular endothelial growth factor (VEGF). ● Ischemic complications (NAION and retinal vascular occlusions) managed in the absence of drusen. NAION is the most com mon cause of acute vision loss in patients with optic nerve drusen. Prognosis ● Usually very good but complications may occur ● VF defects are identified in up to 51% of children and become more common with increasing age.

● Hemorrhagic complications—peripapillary or disc hemorrhage

● CNVM ● NAION ● Retinal artery or vein occlusion

REFERENCES Dutton GN. Congenital disorders of the optic nerve: excavations and hypoplasia. Eye (Lond) . 2004;18(11):1038-1048. Levin AV, Zanolli C, Capasso JE. The Wills Eye Handbook of Ocular Genetics . Thieme Medical Publishers, Inc; 2018. Maguire JI, Murchison AP, Jaeger EA. Wills Eye Hospital 5-Minute Ophthalmology Consult . Lippincott Williams & Wilkins; 2012. Taylor DS. Congenital anomalies of the optic discs. Taylor and Hoyt's Pediatric Ophthalmology and Stra bismus , 5th ed. Elsevier Saunders; 2017:562-580.

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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 ISBN-13: 978-1-975214-90-6 ISBN-10: 1-975214-90-0

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