Contents

Preface . . . . . . . . . . . . . . . . .6

Editors and Contributors . . .7 Abbreviations . . . . . . . . . . . .9

Chapter 1 Functional

anatomy . . . . . . . . . . . . . . .11

Kammi Gunton

Introduction . . . . . . . . . . . . .12 Orbit and external eye . . . . . .12 Extraocular muscles . . . . . . . .14 Anterior segment . . . . . . . . . .17 Posterior segment . . . . . . . . .19

Chapter 2 Ocular examination in infants

and children . . . . . . . . . . . .21

Rudolph S. Wagner

Introduction . . . . . . . . . . . . .22 Ocular examination . . . . . . . .22 The ‘red reflex’ . . . . . . . . .23

Assessment of vision and visual acuity . . . . . . . . . . .23

Cover test for

strabismus . . . . . . . . . . . .28 Light reflex testing . . . . . .29 Color vision testing . . . . .30

Assessment of

stereoacuity . . . . . . . . . . .30 Ophthalmoscopy . . . . . . .31 Vision screening . . . . . . . . . .31 Photoscreening . . . . . . . .32 Autorefraction . . . . . . . . .32 Visual evoked potential . . .32

Chapter 3 Retinopathy of prematurity . . . . . . . . . . . .33

David K. Coats and Ashvini Reddy

Chapter 4 Amblyopia . . . . .43

Robert W. Arnold, Scott E. Olitsky,

and David K. Coats

Chapter 5 Strabismus disorders . . . . . . . . . . . . . .51

Scott E. Olitsky and Leonard B. Nelson

Strabismus . . . . . . . . . . . . . . .52 Comitant strabismus . . . . . . .54 Congenital esotropia . . . .54

Accommodative

esotropia . . . . . . . . . . . . .56

Congenital exotropia . . . .57 Intermittent exotropia . . .57 Incomitant strabismus . . . . . .58 Third cranial nerve palsy . .58 Fourth nerve palsy . . . . . .59 Sixth nerve palsy . . . . . . . .60 Strabismus syndromes . . . . .61 Duane’s syndrome . . . . . .61 Brown’s syndrome . . . . . .62

Monocular elevation deficiency (MED) . . . . . .62

Möbius syndrome . . . . . .64

Chapter 6 Conjunctiva . . . .65

Steven J. Lichtenstein

Introduction . . . . . . . . . . . . .66 Conjunctivitis . . . . . . . . . . . .68 Bacterial conjunctivitis . . . . . .69 Viral conjunctivitis . . . . . . . . .74 Herpes conjunctivitis . . . . . .76

Giant papillary

conjunctivitis . . . . . . . . . .77 Allergic conjunctivitis . . . . . .78 Vernal keratoconjunctivitis . . .80

Phlyctenular keratoconjunctivitis (phlyctenulosis) . . . . . . . .82

Ophthalmia neonatorum . . . .83

Chapter 7 Cornea . . . . . . . .85

Brandon D. Ayres

Introduction . . . . . . . . . . . . .86

Congenital corneal

opacity . . . . . . . . . . . . . . .86 Embryology . . . . . . . . . . .86 Peters anomaly . . . . . . . . .86 Sclerocornea . . . . . . . . . .87 Congenital dermoid . . . . .88 Birth trauma . . . . . . . . . .88

Congenital hereditary endothelial dystrophy . . . .89

Congenital hereditary stromal dystrophy . . . . . . .90

Posterior polymorphous membrane dystrophy . . . .90

Metabolic diseases . . . . . . . . .91 Mucopolysaccharidosis . . .91

Hurler’s syndrome

(MPS I-H) . . . . . . . . . . . .92

Scheie’s syndrome

(MPS I-S) . . . . . . . . . . . .92

Hunter’s syndrome

(MPS II) . . . . . . . . . . . . .92

Morquio’s syndrome

(MPS IV A and B) . . . . . .93

Maroteaux–Lamy syndrome (MPS VI A and B) . . . . . .93

Sly’s syndrome

(MPS VII) . . . . . . . . . . . .93

Idiopathic mucopolysaccharidoses . . .93

Mucolipidosis . . . . . . . . . .93 Sialidosis (ML I) . . . . . . . .93 I-Cell disease (ML II) . . . .93

Pseudo-Hurler dystrophy (ML III) . . . . . . . . . . . . .94

ML IV . . . . . . . . . . . . . . .94

Miscellaneous metabolic

diseases . . . . . . . . . . . . . .94 Fabry’s disease . . . . . . . . .94 Cystinosis . . . . . . . . . . . . .94 Tyrosinemia . . . . . . . . . . .95 Infectious diseases . . . . . . . . .95

Herpes simplex

virus (HSV) . . . . . . . . . . .95 Congenital syphilis . . . . . .96 Rubella . . . . . . . . . . . . . .96

Chapter 8 Lens disorders . .97

Richard P. Golden

Introduction . . . . . . . . . . . . .98

Structural lens

abnormalities . . . . . . . . . .98 Aphakia . . . . . . . . . . . . . .98

Spherophakia (microspherophakia) . . . .98

Coloboma . . . . . . . . . . . .98

Subluxation

(ectopia lentis) . . . . . . . . .98 Lenticonus . . . . . . . . . . . .99

Persistant fetal

vasculature . . . . . . . . . . . .99 Cataracts . . . . . . . . . . . . . . .100 Nuclear cataracts . . . . . .100 Lamellar cataracts . . . . . .100 Anterior polar cataracts . .100 Posterior polar cataracts .100 Sutural cataracts . . . . . . .102

Anterior subcapsular cataracts . . . . . . . . . . . . .102

Posterior subcapsular cataracts . . . . . . . . . . . . .102

Cerulean (blue-dot)

cataracts . . . . . . . . . . . . .102 Complete cataracts . . . . .102 Etiology of cataracts . . . . . .104

Genetic and metabolic diseases . . . . . . . . . . . . .104

Trauma . . . . . . . . . . . . .106

Medication and

toxicity . . . . . . . . . . . . . .106 Maternal infection . . . . .107 Diagnosis of cataracts . . . . .108

Management/treatment of cataracts . . . . . . . . . . . . .108

Visual significance . . . . .108 Surgery . . . . . . . . . . . . .109 Aphakia . . . . . . . . . . . . .110 Pseudophakia . . . . . . . . .111 Amblyopia . . . . . . . . . . .111

Cataract prognosis . . . . . . . .112

Chapter 9 Glaucoma . . . .113

Daniel T. Weaver

Introduction . . . . . . . . . . . .114

Diagnosis of pediatric

glaucoma . . . . . . . . . . . .114 Ocular examination . . . .117

Differential diagnosis of pediatric glaucoma . . . . .118

Primary infantile

glaucoma . . . . . . . . . . . .119

Juvenile open-angle

glaucoma . . . . . . . . . . . .120

Primary pediatric glaucoma associated with systemic disease . . . . . . . . . . . . . .121

Lowe’s syndrome . . . . . .121

Sturge–Weber

syndrome . . . . . . . . . . . .121 Neurofibromatosis . . . . .122

Pediatric glaucoma associated with ocular anomalies . . .123

Axenfeld–Rieger

syndrome . . . . . . . . . . . .123 Aniridia . . . . . . . . . . . . .124 Peters anomaly . . . . . . . .125

Secondary childhood

glaucoma . . . . . . . . . . . .126 Trauma . . . . . . . . . . . . .126 Neoplasia . . . . . . . . . . . .126 Uveitis (iritis) . . . . . . . . .126

Glaucoma following pediatric cataract surgery . . . . . . .127

Other causes of secondary glaucoma in children . . .127

Treatment of pediatric

glaucoma . . . . . . . . . . . .128 Drug treatment . . . . . . .128 Surgical management . . .129 Summary . . . . . . . . . . . . . .130

Chapter 10 Retinal

diseases . . . . . . . . . . . . . .131

Vicki M. Chen and Deborah K. VanderVeen

Introduction . . . . . . . . . . . .132 Coats’ disease . . . . . . . . . . .132

Leber’s congenital

amaurosis . . . . . . . . . . . .134

X-linked congenital stationary night blindness . . . . . . . .136

Achromatopsia . . . . . . . . . .138 Stargardt disease . . . . . . . . .140 Best’s disease . . . . . . . . . . .142 Persistent fetal vasculature . .144

X-linked juvenile

retinoschisis . . . . . . . . . .146 Albinism . . . . . . . . . . . . . . .148

Retinal dystrophies with systemic disorders (ciliopathies) . . . . . . . . .149

Chapter 11 Uveitis . . . . . .151

Gregory Ostrow

Introduction . . . . . . . . . . . .152 Common clinical features . .152 Classification . . . . . . . . . . . .154 Anterior uveitis . . . . . . . . . .155

Juvenile idiopathic

arthritis . . . . . . . . . . . . .155

Juvenile spondyloarthropathies . .156

Sarcoidosis . . . . . . . . . . .156 Herpetic iridocyclitis . . .157 Intermediate uveitis . . . . . . .158 Posterior uveitis . . . . . . . . . .158 Toxoplasmosis . . . . . . . .158 Toxocariasis . . . . . . . . . .159

Vogt–Koyanagi–Harada syndrome . . . . . . . . . . . .160

Sympathetic ophthalmia .160 Masquerade syndromes . . . .162 Retinoblastoma . . . . . . .162 Leukemia . . . . . . . . . . . .162

Chapter 12 Diseases of the optic nerve . . . . . . . . . . . .163

Paul H. Phillips

Introduction . . . . . . . . . . . .164

Chapter 15 Ocular manifestations of

systemic disorders . . . . . .193

Merrill Stass-Isern and Laurie D. Smith

Introduction . . . . . . . . . . . .193 Cystinosis . . . . . . . . . . . . . .194 Marfan’s syndrome . . . . . . .196 Homocystinuria . . . . . . . . .198 Wilson’s disease . . . . . . . . . .200 Fabry disease . . . . . . . . . . . .201 Osteogenesis imperfecta . . .202 The mucopolysaccharidoses .204 Sickle cell disease . . . . . . . . .208 Albinism . . . . . . . . . . . . . . .210 Congenital rubella . . . . . . . .216

Chapter 16 Oculoneurocutaneous syndromes

(‘phakomatoses’) . . . . . . .217

Jerry A. Shields and Carol L. Shields

Introduction . . . . . . . . . . . .218 Genetics . . . . . . . . . . . . .218 Malignant potential . . . .218 Formes frustes . . . . . . . .218

Tuberous sclerosis complex (Bourneville’s

syndrome) . . . . . . . . . . .218

Neurofibromatosis

(von Recklinghausen’s syndrome) . . . . . . . . . . .222

Retinocerebellar hemangioblastomatosis (von Hippel–Lindau

syndrome) . . . . . . . . . . .226

Racemose hemangiomatosis (Wyburn-Mason

syndrome) . . . . . . . . . . .229

Encephalofacial cavernous hemangiomatosis (Sturge–Weber

syndrome) . . . . . . . . . . .230

Oculoneurocutaneous cavernous hemangiomatosis . . . . . .232

Organoid nevus

syndrome . . . . . . . . . . . .233

Chapter 17 Neuroophthalmology . . . . . . . . .235

Jane C. Edmond

Introduction . . . . . . . . . . . .236 Cortical visual impairment . .236 Migraine headache . . . . . . .237

Congenital motor

nystagmus . . . . . . . . . . .238

Spasmus nutans . . . . . . . . . .239 Opsoclonus . . . . . . . . . . . . .239 Horner’s syndrome . . . . . . .240

Congenital ocular

motor apraxia . . . . . . . . .241 Myasthenia gravis . . . . . . . .242

Chapter 18 Ocular

tumors . . . . . . . . . . . . . .243

Carol L. Shields and Jerry A. Shields

Introduction . . . . . . . . . . . .244

Clinical signs of childhood ocular tumors . . . . . . . . . . . . . .244

Eyelid and conjunctiva . .244 Intraocular tumors . . . . .244 Orbital tumors . . . . . . . .245 Diagnostic approaches . . . . .245 Eyelid and conjunctiva . .245 Intraocular tumors . . . . .245 Orbital tumors . . . . . . . .246 Therapeutic approaches . . . .246 Eyelid and conjunctiva . .246 Intraocular tumors . . . . .246 Orbital tumors . . . . . . . .246 Eyelid tumors . . . . . . . . . . .246 Capillary hemangioma . .246 Facial nevus flammeus . .248 Kaposi’s sarcoma . . . . . .248 Basal cell carcinoma . . . .248 Melanocytic nevus . . . . .248 Neurofibroma . . . . . . . .248

Neurilemoma

(schwannoma) . . . . . . . .249 Conjunctival tumors . . . . . .249 Introduction . . . . . . . . .249

Choristomatous conjunctival tumors . . . . . . . . . . . . . .249

Epithelial conjunctival tumors . . . . . . . . . . . . . .253

Melanocytic conjunctival tumors . . . . . . . . . . . . . .254

Vascular conjunctival

tumors . . . . . . . . . . . . . .256

Xanthomatous conjunctival tumors . . . . . . . . . . . . . .257

Lymphoid/leukemic conjunctival tumors . . . .258

Non-neoplastic lesions that simulate conjunctival

tumors . . . . . . . . . . . . . .258 Conclusions . . . . . . . . . .258 Intraocular tumors . . . . . . .259 Retinoblastoma . . . . . . .259

Retinal capillary hemangioma . . . . . . . . .264

Retinal cavernous hemangioma . . . . . . . . .265

Retinal racemose hemangioma . . . . . . . . .265

Astrocytic hamartoma

of the retina . . . . . . . . . .266

Melanocytoma of the

optic nerve . . . . . . . . . . .266

Intraocular medulloepithelioma . . . .266

Choroidal hemangioma .266 Choroidal osteoma . . . . .266 Uveal nevus . . . . . . . . . .268 Uveal melanoma . . . . . .268

Congenital hypertrophy of retinal pigment

epithelium . . . . . . . . . . .270 Leukemia . . . . . . . . . . . .270 Orbital tumors . . . . . . . . . .271 Dermoid cyst . . . . . . . . .271 Teratoma . . . . . . . . . . . .271 Capillary hemangioma . .271 Lymphangioma . . . . . . .272

Juvenile pilocytic astrocytoma . . . . . . . . . .272

Rhabdomyosarcoma . . .272

Granulocytic sarcoma (‘chloroma’) . . . . . . . . . .272

Lymphoma . . . . . . . . . .272

Langerhan’s cell

histiocytosis . . . . . . . . . .272

Metastatic

neuroblastoma . . . . . . . .273

Chapter 19 Ocular

trauma . . . . . . . . . . . . . . .275

Denise Hug

Introduction . . . . . . . . . . . .276 Eyelid . . . . . . . . . . . . . . . . .276 Open globe . . . . . . . . . . . . .278 Ocular surface injury . . . . . .280 Intraocular trauma . . . . . . .282 Iridodialysis . . . . . . . . . . . . .282 Cataract . . . . . . . . . . . . . . .284 Retina . . . . . . . . . . . . . . . . .284 Optic nerve injury . . . . . . . .286 Orbital fracture . . . . . . . . . .286 Other orbital injury . . . . . . .288 Child abuse . . . . . . . . . . . . .289

Shaking injury . . . . . . . .289

References and

bibliography . . . . . . . . . . .291

Index . . . . . . . . . . . . . . . .313

This color handbook was conceived to fill a need for pediatricians and primary care physicians not completely met by existing encyclopedic treatises on pediatric ophthalmology. Our intent was to write a clinically oriented, cohesive text that reviewed the signs, symptoms, and treatment of common ocular diseases and disorders in infants and children. Ocular disorders are of major significance because they often provide clues to the presence not only of systemic diseases but also of other congenital malformations. The recognition, understanding, early treatment and, ultimately, prevention of ocular diseases in childhood will have lasting and gratifying effects for all physicians who care for affected children.

We thank all of our contributing authors for their knowledge and assistance in the preparation of this book. In addition, we are grateful to the publishers at Manson Publishing for their guidance and patience in the production and completion of this book. Lastly, no book in the field of pediatric ophthalmology could exist today without acknowledging the memory of two outstanding pediatric ophthalmologists, Drs Marshall Parks and Robison Harley, who helped establish this subspecialty and paved the way for all of us in this field.

Scott E. Olitsky, MD

Leonard B. Nelson, MD