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Pediatric Ophthalmology and Strabismus E-Book

Pediatric Ophthalmology and Strabismus E-Book

Creig S. Hoyt | David Taylor

(2012)

Additional Information

Book Details

Abstract

Pediatric Ophthalmology and Strabismus is your one-stop source for comprehensive coverage of all the pediatric ophthalmic conditions you are likely to encounter in practice. Extensively updated with expert contributions from leaders in the field and now featuring online instructional videos, this ophthalmology reference delivers all the state-of-the-art guidance you need to effectively diagnose and manage even the most challenging eye diseases and disorders seen in children.

  • Take a holistic approach to patient management that considers the family and ensures optimal doctor-patient relationships.
  • Get a balanced view of etiology, diagnosis, and management, and access unique guidance on the practical problems encountered in real-life clinical cases.
  • Impresses the importance of systemic disease in diagnosis and management.
  • Apply all the latest clinical advances through updated coverage of strabismus diagnosis, management and complications; retinal dystrophies; imaging & investigation; AIDS in children; developmental biology; cerebral visual impairment; child abuse; severe developmental glaucoma; and corneal dystrophies.
  • Get rich visual guidance in diagnosis and management from over 1,700 full-color illustrations.
  • Access advice from the experts with contributions from several new top researchers and clinicians.
  • Find the answers you need quickly and easily through a consistent chapter organization and highly accessible clinical information.
  • Browse the complete contents of Pediatric Ophthalmology and Strabismus online, download all the images, and watch brand-new procedural videos at www.expertconsult.com.

Table of Contents

Section Title Page Action Price
Front cover cover
Pediatric Ophthalmology and Strabismus i
Copyright page iv
Table of Contents v
Video contents viii
Foreword x
Preface xii
List of Contributors xiv
1 Epidemiology, growth and development 1
1 Epidemiology and the world-wide impact of visual impairment in children 1
Chapter contents 1
Specific issues in the epidemiological study of visual impairment in childhood 1
Framing the question 2
Who is a visually impaired child? 2
Measuring the frequency and burden of childhood visual impairment 2
Sources of information on frequency and causes of visual impairment 3
Impact of visual impairment 3
Visual impairment in the broader context of childhood disability 4
Multiple impairments 4
Mortality 4
Groups at high risk of visual impairment 4
Frequency of childhood visual impairment and blindness 4
Prevalence 4
Incidence 5
“Causes” of visual impairment 5
Variation by region and over time 5
Other sources of variations in the pattern of causes 6
Prevention of visual impairment and blindness in childhood: “VISION 2020” 7
The role of ophthalmic professionals in prevention of childhood visual impairment 8
Selected further reading 8
References 8
2 Clinical embryology and development of the eye 9
Chapter contents 9
Embryogenesis and eye development 9
Eye organogenesis (4th–8th week gestation human) 9
Fourth week 9
Fifth week 9
Sixth week 10
Seventh week 10
Eighth week 10
Differentiation and maturation of elements 10
Cornea 10
Anterior chamber structures 12
Iris 12
Ciliary body 12
Trabecular meshwork 12
Pupillary membrane 12
Lens 13
Vitreous and hyaloid system 13
Retina 13
Optic nerve 14
Extraocular muscles 14
Lacrimal system 14
Cranial nerves 14
Emmetropization 15
References 15
References 15.e1
3 Developmental biology of the eye 16
Chapter contents 16
Introduction 16
Important concepts and processes in developmental biology 16
Differentiation 16
Cell migration 16
Programmed cell death 17
Signaling 17
Transcription factor codes 17
Specific developmental events in eye development 17
The eye field and the preplacodal region 17
The optic vesicle and optic stalk 19
Patterning of neural retina in the optic vesicle 20
Involvement and development of the RPE 20
Lens development 21
Differentiation of the neural retina 21
Closure of the optic fissure 21
Cornea and anterior segment development 21
Summary 22
References 22
4 Normal and abnormal visual development 23
Chapter contents 23
Introduction 23
Visual acuity 23
Contrast sensitivity 25
Vernier acuity and stereoacuity 25
Vernier acuity 25
Stereoacuity 26
Dark adapted visual threshold 26
Visual fields 27
Delayed development of visual responsiveness 28
References 29
References 30.e1
5 Emmetropization, refraction and refractive errors: 31
Chapter contents 31
Postnatal growth and emmetropization 31
Treatment of refractive errors 33
Myopia 33
Hyperopia 33
Astigmatism 34
Anisometropia 34
References 34
6 Milestones and normative data 36
Chapter contents 36
Intercanthal distance and palpebra 36
Tear secretion 37
Cornea 38
Central corneal thickness 38
Pupil size and reaction to light 38
The crystalline lens 39
Pars plana and ora serrata 39
Optic disc parameters 39
Axial length 39
Extraocular muscles and sclera 40
Children’s visual function questionnaire 40
Visual acuity 40
Visual field 42
Refraction, corneal curvature, and astigmatism 42
Intraocular pressure 44
References 44
References 44.e1
2 Core practice 45
7 Examination, history and special tests in pediatric ophthalmology 45
Chapter contents 45
Assent and consent 45
It is all about the child 45
The equipment 46
History: include the children 46
A no-touch approach at first 46
Say “Hi”! 46
Observe 46
Head/body posture 47
Visual behavior 47
Where to sit for the examination 47
Parents as a resource 47
Targeted examination 47
Bruckner’s test 48
Binocularity: first no dissociation, no glasses 48
Vision assessment 48
Dynamic retinoscopy 50
Version, ductions, null position 50
Next step: touching and other methods of annoying the child – the second part of the examination 51
Use the company 51
Pupils and corneal diameter 51
Lids 51
Binocularity 51
Confrontation fields 52
Strabismus assessment 52
Slit-lamp examination 52
Refraction 52
Intraocular pressure measurement 53
Fundus examination 53
Finally: rewarding success 54
References 54
8 Visual electrophysiology: 55
Chapter contents 55
Introduction 55
The tests 55
What do the responses tell us? An aide memoire for a busy clinician 57
The electro-oculogram 57
The electroretinogram 57
The visual evoked potential 58
Use of different types of stimulation: pattern reversal, pattern onset, and flash stimulation 59
Visual acuity and the VEP 59
Technical factors 60
Visual stimulators 60
Flash 60
Patterns 60
Field size 60
Check sizes 60
ERG electrodes 61
Refractive error 61
Dilation 61
Dark adaptation 61
Maturation 61
Summary 61
References 61
9 Imaging the fundus 63
Chapter contents 63
Imaging dependent on the state of the media 63
Confocal scanning laser ophthalmoscopy 63
Autofluorescence 63
Fluorescein and indocyanine green angiography 63
Red-free and infrared imaging 63
Wide-field imaging 64
Ultra-wide-field confocal scanning laser 64
Time and Fourier domain optical coherence tomography: “in vivo histology” 65
Imaging independent of the state of the media 67
Ultrasound, computed tomography, and magnetic resonance imaging 67
References 69
10 Genetics and pediatric ophthalmology 71
Chapter contents 71
Background 71
Mendelian inheritance 71
Autosomal dominant inheritance (Fig. 10.1) 71
Expressivity 71
Penetrance 71
New mutations 72
Autosomal recessive inheritance (Fig. 10.3) 73
X-linked inheritance (Fig. 10.4) 73
Female carriers 73
Mitochondrial, or maternal, inheritance 75
Genetic heterogeneity 75
Genetic counseling 76
Genetic testing 76
What is a mutation? 76
Chromosomal alterations 76
Submicroscopic genomic rearrangements 76
Single gene mutations 77
DNA sequencing 77
Conventional DNA sequencing 77
High-throughput DNA sequencing 77
Genetic testing: counseling and ethical issues 77
Predictive or presymptomatic testing 78
Carrier testing 78
Childhood testing 78
Prenatal testing 78
Clinical examination 78
References 78
3 Infections, allergic and external eye disorders 79
11 Ocular manifestations of intrauterine infections 79
Chapter contents 79
Congenital rubella 79
Toxoplasmosis 80
Cytomegalovirus 81
Herpes simplex virus 81
Intrauterine infection (5%) 81
Perinatal infections (85%) 81
Postnatal infection (10%) 82
Syphilis 82
Varicella zoster virus 82
Other intrauterine infections 83
References 83
References 84.e1
12 Neonatal conjunctivitis (ophthalmia neonatorum) 85
Chapter contents 85
Prophylaxis 85
Chemical conjunctivitis 85
Chlamydial conjunctivitis 85
Gonococcal conjunctivitis 86
Bacterial (not chlamydial or gonococcal) conjunctivitis 87
Herpetic conjunctivitis 87
Neonatal conjunctivitis in hospitalized patients 87
Laboratory testing 87
References 87
13 Preseptal and orbital cellulitis 89
Chapter contents 89
Anatomy and terminology 89
Classification 89
Preseptal cellulitis 90
Clinical assessment 90
History 90
Examination 90
Management 91
Orbital cellulitis 92
Etiology 92
History 92
Examination 92
Management 92
Orbital imaging 93
Microbiology of preseptal and orbital cellulitis 95
Subperiosteal and orbital abscess 95
Osteomyelitis of the superior maxilla 96
Cavernous sinus thrombosis 96
Fungal orbital cellulitis orbital mucormycosis 97
References 99
14 Endophthalmitis 100
Chapter contents 100
Clinical presentation 100
Exogenous bacterial endophthalmitis 100
Cataract surgery 100
Trauma 101
Glaucoma filtration surgery 101
Strabismus surgery 101
Intravitreal injection 101
Prevention 101
Management 102
Endogenous bacterial endophthalmitis 103
Exogenous fungal endophthalmitis 103
Endogenous fungal endophthalmitis 103
References 104
15 External eye disease and the oculocutaneous disorders 105
Chapter contents 105
Blepharokeratoconjunctivitis 105
Pathogenesis of blepharokeratoconjunctivitis 105
Treatment of blepharokeratoconjunctivitis 107
Other uncommon causes of chronic blepharokeratoconjunctivitis 108
Conjunctivitis 109
Acute conjunctivitis 109
Hyperpurulent conjunctivitis 109
Membranous conjunctivitis 110
Diagnosis and investigation of conjunctivitis 110
Systemic treatment for microbial conjunctivitis 110
Acute follicular conjunctivitis 110
Viral infectious keratoconjunctivitis 110
Adenoviral keratoconjunctivitis 110
Herpes simplex blepharoconjunctivitis 111
Acute hemorrhagic conjunctivitis 112
Chlamydia conjunctivitis 112
Trachoma 112
Chronic follicular conjunctivitis 112
Molluscum contagiosum 113
Parinaud’s oculoglandular syndrome 113
Ophthalmia nodosa 113
Conjunctival folliculosis 113
Chronic papillary conjunctivitis 114
Vernal keratoconjunctivitis 114
Clinical features 114
Corneal changes 114
Associated disease 115
Disease mechanisms 116
Management 116
Oculocutaneous conjunctivitis 117
Stevens-Johnson syndrome and toxic epidermal necrolysis 118
Management of SJS/TEN 118
Graft-versus-host disease 120
Corneal limbus stem cell failure (ocular surface failure) 121
Management of severe ocular surface disease 122
Toxic and hypersensitivity keratoconjunctivitis 122
Corneal or conjunctival artefacta 123
Ligneous conjunctivitis 123
Keratitis 123
Microbial keratitis 123
Initial examination 124
Investigation 124
Treatment 125
Choice of initial antibiotics 125
Sterilization phase 125
The healing phase 125
Use of topical corticosteroids 125
Progressive or indolent microbial keratitis 126
Herpes simplex virus keratitis 127
Management 127
Herpes zoster ophthalmicus 128
Interstitial keratitis 129
Thygeson’s superficial punctate keratitis 130
Ichthyosis 130
Hereditary benign intraepithelial dyskeratosis 130
References 130
References 131.e1
16 Ocular manifestations of HIV/AIDS in children 132
Chapter contents 132
HIV/AIDS: global and regional epidemiology 132
Transmission of HIV in children 132
Diagnosis of HIV/AIDS in children 133
Ocular manifestations of HIV/AIDS in children 134
Ophthalmic screening and monitoring of HIV-infected children 138
References 138
4 Systematic paediatric ophthalmology 139
1 Disorders of the eye as a whole 139
17 Disorders of the eye as a whole 139
Chapter contents 139
Anophthalmos and microphthalmos 139
Anophthalmos 139
Microphthalmos 140
Idiopathic isolated microphthalmos 140
Inherited isolated microphthalmos 140
Microphthalmos with orbital cyst 140
Microphthalmos with cryptophthalmos 141
Microphthalmos with ocular and systemic malformations 142
Microphthalmos with ocular abnormalities 142
Microphthalmos with systemic malformations 142
Gene mutations associated with anophthalmos and microphthalmos 143
SOX2 143
PAX6 143
PAX2 143
CHX10 143
FOXE3 143
OTX2 143
BMP4 143
Other disorders of the eye as a whole 144
Nanophthalmos 144
Cyclopia and synophthalmos 145
Clinical evaluation and management of anophthalmos and microphthalmos 145
References 146
References 146.e1
2 Lids, brows and oculoplastics 147
18 Developmental anomalies of the lids 147
Chapter contents 147
Normal development and anatomy of the eyelids 147
Embryology of the eyelids 147
Initial development 147
Fusion 148
Final reopening 148
Morphology and anatomy of the eyelids 148
Clinical evaluation of the eyelids 149
Clinical landmarks 149
Eyelid developmental anomalies 150
Developmental anomalies of the periorbital region 150
Abnormal distances between the eyelids and orbits 150
Hypertelorism 150
Telecanthus and dystopia canthorum 151
Hypotelorism 151
Abnormal aspect of the inner canthus 152
Epicanthus palpebralis 152
Epicanthus inversus 152
Major malformations of the eyelids 152
Ablepharon 152
Cryptophthalmos (see Chapter 17) 152
Ankyloblepharon 152
Clefting or notching of the eyelids (“coloboma”) 152
Abnormal palpebral fissures 155
Orientation of the palpebral fissures 155
Long palpebral fissures 155
Short palpebral fissures 156
Abnormal position of the eyelids 156
Ectropion 156
Eversion 157
Epitarsus 157
Epiblepharon 157
Entropion 157
Lagophthalmos 157
Lid retraction in infancy 157
Ptosis (see Chapter 19) 158
Classification 158
Congenital ptosis 158
Neurogenic defects 159
Myogenic ptosis 159
Pseudoptosis 160
Syndromes with ptosis 160
Eyebrows and eyelashes 160
Prominent eyebrows and/or eyelashes 160
Distichiasis 160
Trichomegaly 162
Synophrys 162
Sparse or absent eyebrows and/or eyelashes 163
White brows or lashes 163
Dysmorphology databases and genes involved in syndromes with eyelid anomalies 164
References 164
References 164.e1
19 Lids: Congenital and acquired abnormalities − practical management 165
Chapter contents 165
Management of congenital lid conditions 165
Lid coloboma 165
Cryptophthalmos 165
Ablepharon 166
Ankyloblepharon 166
Euryblepharon 166
Ectropion 166
Eversion 166
Epiblepharon 166
Entropion 167
Tarsal kink/upper lid entropion 167
Distichiasis 167
Epicanthal folds 168
Telecanthus 168
Blepharophimosis 169
Management of congenital and acquired ptosis 169
History and examination 169
Treatment 169
Specific conditions 170
Lid retraction in infancy 171
Seventh nerve palsy 172
Corneal exposure 172
Paralytic ectropion 172
Epiphora (see Chapter 21) 172
Cosmesis 172
Lid tumors 172
Nevi 172
Molluscum contagiosum 172
Juvenile xanthogranuloma (see Chapter 27) 173
Complex choristoma 173
Pilomatrixoma (calcifying epithelioma of Malherbe) 173
Lid hamartoma 173
Meibomian gland diseases 173
Chalazia (meibomian cysts) 173
Acute blepharitis (see Chapter 15) 174
Chronic blepharitis (see Chapter 15) 174
Lid lice (see Chapter 15) 174
Trichiasis 174
Socket management 175
Contracted socket 175
Orbital volume replacement 175
Discharging sockets 175
Lid and adnexal trauma (see Chapter 66) 175
Etiology 175
Immediate management 175
Traumatic ptosis 176
Lacrimal drainage injuries 176
Medial canthal tendon injuries 176
Burns 177
References 177
20 Lid and orbital infantile peri-ocular hemangiomas (capillary hemangiomas) and other vascular disease 178
Chapter contents 178
Tumors 178
Infantile peri-ocular hemangioma (capillary hemangioma) 178
Clinical features 179
Investigation 180
Management 180
Hemangiopericytoma 181
Vascular malformations 184
Venous-lymphatic malformations (lymphangiomas) 184
Superficial 184
Deep 184
Combined lesions (lymphohemangiomas) 184
Investigation 185
Management 185
Congenital orbital varices 185
Arteriovenous malformations 186
Sturge–Weber syndrome (see Chapters 37 and 65) 187
Rare vascular lesions of the orbit 188
Klippel-Trenaunay-Weber syndrome (see Chapter 65) 188
Blue rubber bleb nevus syndrome 188
References 189
References 189.e1
3 Orbit and lacrimal 190
21 The lacrimal system 190
Chapter contents 190
Introduction 190
Lacrimal gland 190
Embryology 190
Anatomy 190
Congenital abnormalities 190
Dry eyes in children 191
Congenital causes 191
Acquired causes 191
Dacryoadenitis 191
Lacrimal tumors (see Chapter 26) 191
The lacrimal drainage system 191
Embryology 191
Anatomy 191
Physiology 192
Congenital abnormalities 192
Congenital dacryocystocele 192
Congenital nasolacrimal duct obstruction 192
Natural history 193
Conservative treatment 193
Syringing and probing 193
What to do if probing fails 196
Intubation 196
Dacryocystorhinostomy 197
Congenital fistulae of the lacrimal outflow system 197
Punctal and canalicular abnormalities 197
Acquired conditions of the lacrimal drainage apparatus 197
Canaliculitis 197
Acute dacryocystitis 197
Acquired nasolacrimal duct obstruction 197
References 197
References 198.e1
22 The management of orbital disease in children 199
Chapter contents 199
Orbital disease and age 199
Clinical assessment 200
History 200
Examination 202
Enophthalmos 202
Investigations 204
Radiology 204
Plain X-rays 204
Computed tomography and magnetic resonance imaging 204
Surgery 204
References 205
23 Neurogenic tumors 206
Chapter contents 206
Optic nerve tumors 206
Optic glioma 206
Visual pathway gliomas 206
Presentation 206
Radiographic features 208
Biological behavior and management 208
Screening for visual pathway gliomas 211
Meningiomas 211
Optic nerve sheath meningiomas 211
Investigation 212
Treatment 212
Rare optic nerve tumors in childhood 214
Schwannoma 214
References 215
References 215.e1
24 Orbital rhabdomyosarcoma 216
Chapter contents 216
General considerations 216
Clinical features 216
Diagnostic approaches 216
Computed tomography 216
Magnetic resonance imaging 217
Biopsy 219
Pathology 219
Management 219
Historical aspects 219
Intergroup Rhabdomyosarcoma Study Group 219
Surgery 219
Chemotherapy 219
Irradiation 220
Prognosis 220
Summary 220
References 220
References 221.e1
25 Other mesenchymal abnormalities 222
Chapter contents 222
Dysplasias 222
Fibrous dysplasia of the orbit 222
Clinical features 222
Management 223
Bone tumors 224
Reparative granuloma 224
Aneurysmal bone cyst 225
Neoplasias 225
Juvenile ossifying fibroma of the orbit 225
Other mesenchymal tumors 226
Osteoblastoma 226
Postirradiation osteosarcoma of the orbit (see Chapter 42) 226
Infantile cortical hyperostosis (Caffey’s disease) 226
Osteopetrosis 227
Other bone dysplasias 227
References 228
References 228.e1
26 Metastatic, secondary and lacrimal gland tumors 229
Chapter contents 229
Metastatic disease 229
Neuroblastoma 229
Genetics 229
Clinical presentation 229
Ophthalmic and orbital features 230
Presentation 230
Treatment 230
Ewing’s sarcoma 231
Secondary disease 231
Retinoblastoma (see Chapter 42) 231
Malignant melanoma 231
Lacrimal gland tumors 232
References 232
References 233.e1
27 Histiocytic, hematopoietic and lymphoproliferative disorders 234
Chapter contents 234
Langerhans’ cell histiocytosis (histiocytosis X) 234
Ophthalmic involvement 235
Orbital involvement 235
Clinical features 235
Investigation 235
Management and prognosis 237
Non-Langerhans’ cell histiocytosis 237
Juvenile xanthogranuloma 237
Histopathology 237
Ocular involvement 238
Management 239
Optic nerve and retinal involvement 239
Epibulbar lesions 239
Involvement of the ocular adnexae 239
Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) 240
Leukemia (see Chapter 64) 240
Lymphoma 241
References 241
References 242.e1
28 Craniofacial abnormalities 243
Chapter contents 243
Introduction 243
Craniosynostosis 243
Pathophysiology 243
Pathogenesis and genetics 243
Effects on the skull 243
Effects on intracranial pressure, the brain, and optic nerve 244
Effects on the orbit 244
Management 245
Diagnosis 245
Ophthalmic management in craniosynostosis 248
Vision loss 248
Strabismus 250
Clefting syndromes 250
Treacher-Collins syndrome 251
General findings 251
Ocular findings 251
Management protocol 258
Goldenhar’s syndrome 258
General findings 258
Ocular findings 258
Frontoethmoidal meningoencephalocele 258
Management 260
Midline facial cleft 260
Amniotic bands 260
Craniofacial surgery 260
Neurosurgical complications 262
The ophthalmologist as an important member of the craniofacial team 263
Acknowledgment 263
References 263
29 Cystic lesions and ectopias 265
Chapter contents 265
Cystic lesions 265
Lacrimal ductal cyst 265
Dermoid cyst 265
Superficial dermoids 266
Deep dermoids 267
Conjunctival dermoids 267
Orbital encephalocele (see Chapter 56) 267
Sinus mucocele 268
Congenital cystic eyeball (anophthalmos with cyst) (see Chapter 17) 268
Microphthalmos with cyst 269
Clinical presentation 269
Management 270
Orbital teratoma 270
Parasitic cysts 271
Echinococcosis (hydatid cyst) 271
Ectopias 272
Dermolipoma 272
Ectopic lacrimal gland 272
Conjunctival and inclusion cyst 272
Other cystic lesions 273
References 273
References 274.e1
30 Inflammatory disorders 275
Chapter contents 275
Non-specific orbital inflammatory syndromes (pseudotumors) 275
Definition 275
Anterior idiopathic orbital inflammation: acute and subacute 275
Diffuse idiopathic orbital inflammation: acute and subacute 276
Anterior and diffuse non-specific orbital inflammatory syndromes: differential diagnoses and management 276
Idiopathic orbital myositis: acute and subacute 277
Idiopathic lacrimal inflammation: acute and subacute 277
Specific causes of orbital inflammation 277
Wegener’s granulomatosis 278
Clinical features 278
Sarcoidosis 278
Thyroid orbitopathy 279
References 279
4 External Disease and Anterior Segment 281
31 Conjunctiva and subconjunctival tissue 281
Chapter contents 281
Anatomy 281
Conjunctiva in systemic disease 281
Vitamin A deficiency 281
Xeroderma pigmentosa 282
Sturge-Weber syndrome 283
Icthyosis 283
Anemia 283
Leukemias 283
Measles keratoconjunctivitis 283
Alkaptonuria 283
Ataxia telangiectasia (Louis-Bar syndrome) 283
Fabry’s disease 284
Osler-Weber-Rendu syndrome 284
Sickle cell disease 284
Conjunctival tumors 284
Hamartomas 284
Choristomas 284
Epithelial tumors 285
Lymphangiectasia 285
Lymphangiomas 285
Rhabdomyosarcoma 285
Neurofibromas and neurilemmomas 285
Juvenile xanthogranuloma 285
Pigmented lesions of the conjunctiva 285
Conjunctival nevus 285
Melanocytic nevus 286
Nevus of Ota 286
Malignant melanoma 286
Miscellaneous disorders of conjunctiva 286
Pyogenic granuloma 286
Subconjunctival hemorrhage 287
Conjunctival granulomas 287
Parasitic infestation of the conjunctiva 288
Ophthalmomyiasis 288
Conjunctival trauma and foreign bodies 288
Symblepharon 289
References 289
32 Anterior segment: 290
Chapter contents 290
Embryology of the anterior segment 290
Control of development: responsible genes 290
Gene mutations causing anterior segment developmental anomalies 290
Transcription factors and anterior segment development 291
Gene expression in the developing anterior segment: sites of gene action 291
Understanding gene function through study of animal models 293
Foxc1 and Pitx2 are essential for corneal development 293
Pax6 and other genes expressed in the developing lens cause ASDAs 293
Insights into the etiology of developmental glaucoma from mouse models of ASDA 294
Clinical conditions due to anterior segment developmental anomalies 294
Anterior segment developmental anomalies of neural crest cell origin 294
Posterior embryotoxon 294
Congenital iris ectropion 296
Congenital hereditary endothelial dystrophy 296
Posterior polymorphous dystrophy 296
Primary congenital glaucoma 296
ICE syndromes 296
Anterior segment developmental anomalies of ectodermal origin 297
Anterior segment developmental anomalies of a global origin 297
Congenital megalocornea 297
Microcornea 298
Peters’ anomaly 298
Sclerocornea 302
Cornea plana 302
Autosomal dominant keratitis 303
Aniridia 304
Penetrating keratoplasty for anterior segment developmental anomalies 306
References 308
References 309.e1
33 Corneal abnormalities in childhood 310
Chapter contents 310
Developmental defects 310
Embryologic errors 310
Anterior segment dysgenesis (Chapter 32) 310
Genetic syndromes 310
Trisomy 18 and trisomy 8 mosaic 310
Ectodermal dysplasia 311
Corneal opacities associated with dermatologic conditions 311
Ichthyosis 311
Autoimmune blistering diseases 312
Erythema multiforme, Stevens-Johnson syndrome, and toxic epidermal necrolysis 312
Epidermolysis bullosa 312
Reiter’s syndrome 313
Vitamin A deficiency and measles (see Chapter 31) 313
Infectious keratitis (see Chapter 15) 313
Herpetic keratitis (see Chapter 15) 313
Inflammatory keratitis: chronic blepharokeratoconjunctivitis (see Chapter 15) 314
Interstitial keratitis 314
Cogan’s syndrome 314
Corneal trauma 314
Exposure keratitis 314
Corneal anesthesia and hypoesthesia 315
Treatment in infancy 316
Treatment in childhood 316
Accidental and non-accidental injury 316
Hyphema and blood staining 316
Keratoconus (see Chapter 34) 317
Keratoglobus and blue sclerae 317
Dermoids 318
Amniotic bands 319
Corneal crystals 319
Cystinosis (see Chapter 62) 320
Schnyder’s corneal dystrophy 320
Bietti’s crystalline dystrophy 320
Band keratopathy 320
Corneal arcus 321
Corneal nerves 321
Multiple endocrine neoplasia 322
References 322
References 322.e1
34 Corneal dystrophies 323
Chapter contents 323
Definition 323
Classification 323
Mutation rate 323
Dystrophies related to mutations in the TGFBI gene 323
Granular dystrophies 324
Granular corneal dystrophy, type 1 (a category 1 dystrophy) 324
Granular corneal dystrophy, type 2 (a category 1 dystrophy) 324
Lattice corneal dystrophy (a category 1 dystrophy) 324
Reis-Bücklers and Thiele-Behnke corneal dystrophies (category 1 dystrophies) 324
Dystrophy due to mutations in other genes 325
Macular corneal dystrophy (a category 1 dystrophy) 325
Posterior polymorphous corneal dystrophy (some subtypes are a category 1, some a category 2 dystrophy) 325
Meesmann’s corneal dystrophy (a category 1 dystrophy) 326
Schnyder’s corneal dystrophy (a category 1 dystrophy) 326
Congenital hereditary endothelial dystrophy (the autosomal dominant variety is a category 2 dystrophy; the autosomal recessive variety is a category 1 dystrophy) 328
Reference 328
35 The lens 329
Chapter contents 329
Anatomy 329
Embryology 329
Developmental abnormalities of the lens 330
Ectopia lentis 332
Marfan’s syndrome and the type-1 fibrillinopathies 332
Homocystinuria 334
Weill-Marchesani syndrome 334
Ectopia lentis et pupillae 335
Aniridia (see Chapter 32) and congenital glaucoma (see Chapter 37) 335
Megalocornea 335
Ehlers-Danlos syndrome 335
Trauma 336
Sulfite oxidase deficiency and molybdenum cofactor deficiency 336
Xanthine oxidase deficiency 336
Management of ectopia lentis 336
References 337
36 Childhood cataracts 339
Chapter contents 339
Incidence 339
Detection 339
Morphology 339
Persistent fetal vasculature 341
Etiology 342
Bilateral 342
Unilateral 342
History 342
Ocular examination 343
Laboratory work-up 343
Management 347
Non-surgical: patching, dilation 347
Surgical 347
Surgical techniques 347
Optical correction 347
Contact lenses 347
Spectacles 347
Intraocular lenses 347
Management of amblyopia 348
Unilateral cataract 349
Bilateral and traumatic cataracts 349
Postoperative complications 349
Visual axis opacities 349
Amblyopia (see Chapter 70) 349
Glaucoma (see Chapter 37) 350
Strabismus 350
Irregular pupil 350
Heterochromia iridis 350
Endophthalmitis 350
Retinal hemorrhages and detachments 350
Cystoid macular edema 351
Corneal edema 351
Visual outcomes 351
References 351
37 Childhood glaucoma 353
Chapter contents 353
Introduction 353
Classification 353
Clinical findings 353
Unique features of glaucoma in infancy 353
Generalized ocular enlargement 353
Reversible optic nerve cupping 353
Differential diagnosis 355
Classification 355
Primary childhood glaucoma 355
Primary congenital glaucoma 355
Demographics 355
Genetics 356
Pathogenesis 356
Gonioscopic findings 356
Treatment 356
Juvenile open angle glaucoma 356
Secondary childhood glaucoma 356
Anterior segment developmental anomalies (see Chapter 32) 356
Aniridia 358
Phakomatoses 358
Aphakic glaucoma 358
Inflammatory glaucoma 359
Miscellaneous conditions 359
Management 359
Assessment 359
History 359
Examination 359
Intraocular pressure measurement 359
Anterior segment examination 360
Corneal diameter measurement 360
Corneal thickness 360
Gonioscopy 360
Posterior segment examination 360
Refraction 360
Examination under anesthesia 361
Anesthesia 361
Examination findings 361
Investigations 361
Ultrasound 361
A-scan 361
B-scan 361
Visual fields 361
Optic disk and nerve fiber layer analysis 361
Interpretation of findings 361
Treatment 361
Medical therapy 361
Beta-blockers 361
Prostaglandin analogs 362
Carbonic anhydrase inhibitors 362
Sympathomimetics 362
Parasympathomimetics 362
Surgical therapy 362
Angle surgery 362
Goniotomy 362
Trabeculotomy 363
Trabeculotomy combined with trabeculectomy 363
Filtering surgery 363
Trabeculectomy 363
Antimetabolite treatment 364
Tube drainage surgery 365
Cyclodestruction 365
Refractive correction and amblyopia therapy 366
The role of penetrating keratoplasty 366
Prognosis 366
Acknowledgments 366
References 366
References 367.e1
5 The uvea 368
38 The uveal tract 368
Chapter contents 368
Anatomy 368
Embryology 368
Symptoms of uveal disease 369
Persistent pupillary membranes 370
Congenital iris and stromal cysts 370
Iris ectropion or ectropion uveae 371
Heterochromia iridis 371
Juvenile xanthogranuloma 372
Brushfield’s spots 372
Colobomas 372
Iris melanosis and iris mammillations 373
Tumors of the uveal tract (Box 38.5) 373
Iris hemangioma 373
Choroidal melanomas 374
Spontaneous hyphemas 375
References 375
References 376.e1
39 Uveitis 377
Chapter contents 377
Introduction 377
General considerations 377
Organization of service 378
Evaluation for systemic disease 379
Epidemiology of pediatric uveitis 379
Epidemiology of vasculitis 379
Clinical types of uveitis 380
Idiopathic uveitis 380
Painful anterior uveitis 380
Painless anterior uveitis 380
Intermediate uveitis 380
Panuveitis and multifocal choroiditis 380
Retinitis 381
Neuroretinitis 381
Post-traumatic uveitis 382
Sympathetic ophthalmia 382
Lens-induced uveitis 382
Parainfectious uveitis 382
Localized autoinflammatory diseases 382
Juvenile idiopathic arthritis 382
Epidemiology 382
JIA types associated with CAU 382
Investigation of CAU 382
Other JIA types 382
Screening 383
Monitoring 383
Clinical signs 383
Course 384
Indications for treatment 384
Alternative treatments to topical steroids 385
Alternatives to methotrexate 385
Glaucoma 385
Other localized autoinflammatory diseases 385
Behçet’s disease 385
5 Selected topics in pediatric ophthalmology 616
58 Ethics, morality and consent in pediatric ophthalmology 616
Chapter contents 616
Informed consent 616
Capacity to give consent (Box 58.1) 616
Points for giving informed consent (Box 58.2) 617
If the child patient refuses the procedure 617
If the parent refuses the procedure 617
Consent to research 617
Confidentiality 618
Access to medical records by children, young people, and parents 618
Child protection 618
References 618
Further reading 618
59 How to help the visually disabled child and family 619
Chapter contents 619
Telling the family 619
The family 619
Early interventions 620
The multidisciplinary team 620
Development of the child 620
Motor development 620
Conceptual development 620
Language development 620
Social and emotional development 620
Neurodevelopmental issues and the visually impaired child 620
Blind mannerisms 621
Possible behavioral problems? 621
Promotion of vision development 621
Education 621
Orientation and mobility 622
Assistive technology 622
References 622
60 Visual conversion disorder: 624
Chapter contents 624
Features and definitions 624
Conversion disorder 625
Clinical presentation and symptoms 625
Depression 625
Association with organic disease 625
Psychologic background 626
Detection of functional ocular disorders in children 626
Clinical examination in visual conversion disorders 626
Total blindness 626
Bilateral 626
Unilateral 626
Partial acuity loss 628
Unilateral 628
Bilateral 628
Visual field defects 628
Confirmatory studies 629
Management 630
Prognosis 630
References 630
61 Vision, reading and dyslexia 631
Chapter contents 631
Reading 631
Dyslexia 631
Reading assessment 632
Dyslexia management 632
The visual system 632
The clinical work-up 633
History 633
Examination 633
Refraction 633
Near visual acuity 633
Accommodation 633
Near point accommodation 633
Dynamic refraction 634
Accommodative facility 634
Convergence 635
Binocular function 635
Saccadic function 635
Suggested management 635
Controversial theories and treatments 635
Magnocellular theory 635
Meares Irlen syndrome 635
Ocular motor dysfunction 635
Accommodation exercises and low plus glasses 636
Summary 636
Acknowledgment 636
References 636
62 Neurometabolic disease and the eye 638
Chapter contents 638
Lysosomal disorders 638
Mucopolysaccharidoses 639
Corneal clouding in MPS 639
Hypermetropia and strabismus in MPS 640
Retinopathy in MPS 640
Optic disk swelling and atrophy 640
Glaucoma 641
Systemic manifestations in MPS 641
Prognosis and treatment of MPS 641
Neuronal ceroid lipofuscinosis 642
Infantile neuronal ceroid lipofuscinosis (CLN1, Haltia-Santavuori disease) 642
Classical late infantile neuronal ceroid lipofuscinosis (CLN2, Jansky-Bielschowsky disease) 642
Juvenile neuronal ceroid lipofuscinosis (CLN3, Batten’s disease) 642
Glycoprotein disorders 643
α-Mannosidosis (α-mannosidase deficiency) 643
Fucosidosis 643
Sialidosis (mucolipidosis type I) 643
Sialic acid storage diseases 643
Mucolipidoses 644
Sphingolipidoses 645
GM2 gangliosidosis 645
Metachromatic leukodystrophy (arylsulfatase deficiency) 645
Krabbe’s disease (galactocerebrosidase deficiency) 645
GM1 gangliosidosis 645
Niemann-Pick disease 645
Niemann-Pick disease types A and B (sphingomyelinase deficiency) 645
Niemann-Pick types C and D 646
Fabry’s disease (α-galactosidase deficiency) 646
Farber’s disease 647
Cystinosis 647
Gaucher’s disease (glucocerebrosidase deficiency) 647
Gaucher’s type 1 (non-neurologic) 647
Gaucher’s type 2 (infantile) 647
Gaucher’s type 3 (Norrbottnian or chronic neuronopathic) 647
Mitochondrial disorders 648
Leber’s hereditary optic neuropathy 648
Kearns-Sayre syndrome 648
MELAS syndrome 648
NARP syndrome 648
Leigh’s disease 648
Alpers’ syndrome 649
Sengers’ syndrome 649
Autosomal dominant optic atrophy 649
Peroxisomal diseases 649
Peroxisomal biogenesis disorders 649
Zellweger’s spectrum (Zellweger’s syndrome, neonatal adrenoleukodystrophy, infantile Refsum’s disease) 649
Rhizomelic chondrodysplasia punctata 649
Refsum’s disease 649
X-linked adrenoleukodystrophy 649
Primary hyperoxaluria type I 650
Congenital defects of glycosylation 650
Disorders of N-linked glycosylation 650
Walker-Warburg syndrome and muscle–eye–brain disease 650
Inborn errors of carbohydrate metabolism 650
Galactosemia and galactokinase deficiency 650
Inborn errors of amino acid metabolism 651
Homocystinuria 651
Propionic and methylmalonic acidemias 651
CblC (cobalamin C) disease 651
Maple syrup urine disease 651
Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency 651
Gyrate atrophy 651
Tyrosinemia type 2 (Richner-Hanhart syndrome) 651
Oculocutaneous albinism 652
Aromatic L-amino acid decarboxylase deficiency 652
Canavan’s disease 652
Disorders of fatty acid and fatty alcohol metabolism 652
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 652
Sjögren-Larsson syndrome 653
Disorders of sterol metabolism 653
Smith-Lemli-Opitz syndrome 653
Mevalonic aciduria and hyperimmunoglobulinemia D syndrome 653
X-linked dominant chondrodysplasia punctata 2 (CDPX2, Conradi-Hünermann syndrome) 654
Cerebrotendinous xanthomatosis 654
X-linked ichthyosis (steroid sulfatase deficiency) 654
Lipoprotein disorders 654
Abetalipoproteinemia (Bassen-Kornzweig syndrome) 654
Lecithin : cholesterol acyltransferase (LCAT) deficiency and “fish eye” disease (partial LCAT deficiency) 654
Apo A-I deficiency 654
Copper transport disorders 654
Wilson’s disease 654
Menkes’ disease 654
References 655
References 655.e1
63 Pupil anomalies and reactions 656
Chapter contents 656
Development (see Chapter 2) 656
The near synkinesis 656
Congenital and structural abnormalities 656
Afferent abnormalities of pupil reactivity 657
Afferent pupil defects 657
Amaurotic pupils 657
Relative afferent pupil defect 658
Testing for a RAPD 658
Light–near dissociation 658
Efferent pupillomotor defects 658
Argyll Robertson pupils 658
Sylvian aqueduct syndrome (Parinaud’s dorsal midbrain syndrome) 658
Adie’s syndrome (tonic pupil syndrome) 658
Other causes of tonic pupils 659
Iris abnormalities 659
Benign episodic unilateral mydriasis (“springing pupil”) 660
Midbrain corectopia 660
Third nerve palsy (see Chapter 82) 660
Riley-Day syndrome 660
Iris sphincter or dilator muscle spasms 660
Paradoxical pupils 660
Horner’s syndrome 661
Clinical characteristics 661
Miosis 661
Ptosis 661
Ipsilateral anhidrosis 661
Heterochromia 662
Pharmacological responses 662
Other characteristics 662
Congenital Horner’s syndrome (Fig. 63.10) 662
Postnatally acquired Horner’s syndrome 663
Management 663
Congenital Horner’s syndrome 663
Acquired Horner’s syndrome 663
Pupil changes from high sympathetic “tone” 664
Pupil changes from damage to the parasympathetic system (see Chapter 82) 664
Pharmacological agents 664
Pupil-dilating agents 664
Parasympatholytic agents 664
Sympathomimetics 664
Pupil-constricting agents 664
Cholinergic drugs 664
Anticholinesterases 664
Sympatholytic agents 664
Systemic agents 664
Abnormalities of the near reflex 664
Congenital absence 664
Acquired defects 664
Sylvian aqueduct (Parinaud’s) syndrome 664
Systemic disease 665
Pharmacological agents 665
Eye disease 665
Other neurological causes 665
Accommodation in school children 665
Spasm of the near reflex 665
References 665
64 Leukemia 667
Chapter contents 667
Introduction 667
Lids 668
Conjunctiva 668
Cornea and sclera 668
Lens 668
Anterior chamber, iris and intraocular pressure 668
Choroid 669
Retina and vitreous 669
Hyperviscosity changes 669
Retinal hemorrhages 670
Retinal infiltrates and white patches 670
Retinal infarction 671
Vitreous cells 671
Other retinal manifestations 671
Optic nerve 671
Other neuro-ophthalmic involvement 671
Complications of treatment 672
Drugs 672
Stem cell transplantation 673
References 674
65 Phakomatoses 675
Chapter contents 675
Definition 675
Neurofibromatoses 675
Neurofibromatosis type 1 675
Genetics 675
Clinical presentation 675
Lisch nodules 675
Anterior segment and uvea 676
Skin, lids and orbits 676
Skeletal anomalies 676
Optic disk and central nervous system 677
Other systems 677
Neurofibromatosis type 2 678
Genetics 678
Systemic findings 678
Ocular findings 678
Anterior segment 678
Posterior segment 678
Prognosis 679
Tuberous sclerosis 680
Diagnostic criteria 680
Genetics 680
Neurologic features 680
Dermatologic manifestations 682
Visceral features 682
Ocular features 682
Ocular management 682
Vigabatrin monitoring 684
von Hippel-Lindau disease 684
Genetics 684
Diagnostic criteria and screening 685
CNS and visceral features 685
Ophthalmic features 685
Sturge-Weber syndrome 685
Pathogenesis 686
Neurologic features 686
Ophthalmic features and management issues 686
Dermatologic features and management issues 687
Other conditions sometimes grouped with phakomatoses 688
Klippel-Trénaunay-Weber syndrome (Fig. 65.24) 688
Ataxia telangiectasia (Louis-Bar syndrome) 688
Wyburn-Mason syndrome 688
References 688
66 Accidental trauma in children 690
Chapter contents 690
Introduction 690
Epidemiology 690
Self-inflicted injury 690
Ophthalmic trauma caused by amniocentesis and birth injury 690
Eyelid and lacrimal system trauma 690
Anterior segment trauma 691
Subconjunctival hemorrhage (see Chapter 31) 691
Corneal abrasion 691
Corneal foreign body 691
Eye wall injuries 692
Etiology 692
Predisposition (“brittle corneas”) 692
Globe rupture 693
Anterior versus posterior laceration 693
Diagnosis 693
Management 693
Prevention 693
Treatment 693
Imaging 693
Anesthesia 694
Surgery 694
Prognosis 694
Traumatic cataracts 694
Hyphema 694
Posterior segment trauma 695
Commotio retinae 695
Purtscher’s retinopathy 695
Whiplash injury 696
Choroidal rupture 696
Retinal hemorrhages 696
Traumatic retinal detachment 696
Orbit trauma 696
Orbital bone fractures 696
General 696
Blow-out fractures 696
Etiology 696
Complications 697
Traumatic optic neuropathy (see Chapter 53) 697
Etiology 697
Diagnosis and treatment 697
Traumatic retrobulbar hemorrhage 697
Central nervous system trauma (see Chapter 56) 697
Prolonged cortical visual impairment following trauma 697
Post-traumatic transient cortical visual impairment 698
Traumatic cranial neuropathy (see Chapter 83) 698
Diagnosis 698
Management 698
Disorders following concussion 698
References 698
67 Child maltreatment, abusive head injury and the eye 700
Chapter contents 700
Definitions 700
Epidemiology 700
Risk factors for child maltreatment 700
Presentation of child abuse victims to the ophthalmologist 701
Management 701
Clinical records 702
History 703
Examination 703
Medico-legal issues 703
Expert witness 703
Evaluation of child maltreatment literature 703
Ophthalmic features of physical abuse 704
Direct injury 704
Indirect injury 704
Ophthalmology outcome on follow-up of abusive head injury 706
Differential diagnosis of retinal hemorrhages 707
Clinical entities or disease states 708
Pre-existing eye disease 708
Confounding conditions 708
Systemic features of abusive head injury 709
Neurological 709
Fractures 709
Bites 709
Burns and scalds 709
Bruises 710
Biomechanics of retinal hemorrhages 711
Prevention 711
Munchausen’s syndrome by proxy 711
The ophthalmologist and child maltreatment 712
References 712
References 713.e1
68 Refractive surgery in children 714
Chapter contents 714
Introduction 714
Types of refractive surgery used in children 715
Safety of ASA versus LASIK 715
Phakic intraocular lens safety 715
Refractive lens exchange and clear lens extraction safety 716
Strategy for pediatric refractive surgery 716
Improvements in visual acuity and visual function 716
Controversies in pediatric refractive surgery 716
Summary 716
References 720
References 720.e1
6 Amblyopia, strabismus and eye movements 721
1 The fundamentals of strabismus and amblyopia 721
69 A vision of the present and future of strabismus 721
Chapter contents 721
Pharmacologic treatment of strabismus 721
Pharmacologic treatment of the deviation 721
Botulinum toxin A 721
Crotoxin 721
Bupivacaine 721
Pharmacologic treatment of amblyopia 722
Surgical treatment of strabismus 722
Strabismus surgery 722
Chemical or biologic adhesives 723
Implantable functional electrical stimulation devices to correct strabismus and nystagmus 723
Replacement of lost ocular rotational forces 723
A new method for treating nystagmus 723
The genetics of strabismus 724
Comitant strabismus 724
Incomitant strabismus 724
The congenital cranial dysinnervation disorders 724
The CFEOMs 724
Duane’s syndrome 724
Stem cells and strabismus 725
References 725
References 725.e1
70 Amblyopia management 726
Chapter contents 726
Methods of detection 726
Methods of treatment 727
Refractive correction 727
Occlusion therapy 727
“Penalization” therapy 729
Occlusion compared to penalization 729
Fogging 729
Active therapy 730
Systemic therapy 730
Combined therapies 730
Discontinuation of treatment/maintenance therapy 731
Compliance 731
Reverse amblyopia 731
Treatment of adults 731
References 731
References 732.e1
71 The physiologic anatomy of eye muscles and the surgical anatomy of strabismus 733
Chapter contents 733
Introduction 733
The extraocular muscles 733
Medial rectus muscle 736
Lateral rectus muscle 736
Superior rectus muscle 736
Inferior rectus muscle 737
Superior oblique muscle 737
Inferior oblique muscle 737
Orbital connective tissue 738
The pulley theory 739
Anatomic variations 740
References 740
72 The clinical approach to strabismus 742
Chapter contents 742
Introduction 742
The clinical setting 742
Room layout 742
Distance fixation and acuity targets 742
Tools of the trade 742
Interaction with the child and parents 744
First meeting 744
Role of the orthoptist 744
Practical history taking: extracting clinically relevant details 744
Examination 744
Sensory examination 744
Acuity 744
Preferential looking techniques 745
Kay pictures 745
logMAR-based matching tests 745
logMAR 745
Fixation preference 745
Binocular single vision, fusion and stereopsis 745
Retinal correspondence 745
Motor and sensory fusion 745
Central (bifoveal) and peripheral fusion 745
Fusion range (fusion amplitudes) 745
Binocular vision 746
Stereopsis 746
Measuring retinal correspondence binocular vision, and fusion 746
Tests of retinal correspondence 746
Bagolini glasses 746
Tests of fusion potential 746
Worth four-dot test 746
Testing fusion range (amplitude) 746
Tests of stereopsis 746
Accommodation and convergence 747
Motor examination 747
Basic deviation 747
Prism cover tests in nine positions of gaze 747
Versions and ductions 747
Head tilts 747
Torsion measurement 747
Maddox rods 747
Bagolini lenses 749
Indirect ophthalmoscopy 749
Forced duction and forced generation tests 749
Abnormal head postures (see Chapter 81) 749
Ocular examination in strabismus patients 749
Documentation of strabismus findings 751
Sensory documentation 751
Motor documentation 751
Prism cover tests 751
Versions 751
Characteristics of abnormal ocular movements 751
Electronic patient records and audit in strabismus management 752
References 755
73 Why do humans develop strabismus? 756
Chapter contents 756
Developmental non-paralytic strabismus 756
Early-onset (infantile) esotropia 756
Early cerebral damage as the major risk factor 756
Cytotoxic insults to cerebral fibers 757
Genetic influences on formation of cerebral connections 757
Development of binocular visuomotor behavior in normal infants 757
Development of sensorial fusion and stereopsis 758
Development of fusional vergence and an innate convergence bias 758
Development of motion sensitivity and conjugate eye tracking (pursuit/optokinetic nystagmus) 758
Development and maldevelopment of cortical binocular connections 758
Persistent nasalward visuomotor biases in strabismic primate 758
Repair of strabismic human infants: the historical controversy 758
Repair of high-grade fusion is possible 759
Timely restoration of correlated binocular input: the key to repair 760
Visual cortex mechanisms in microesotropia (monofixation syndrome) 760
Neuroanatomic findings in area V1 of microesotropic primates 761
Extrastriate cortex in microesotropia 761
Acquired (non-infantile) esotropia 762
Exotropia 762
Summary of strabismus neuroscience knowledge 762
References 763
References 763.e1
2 Esotropias 764
74 Infantile esotropias 764
Chapter contents 764
History 764
Epidemiology 765
The natural history of the development of ocular alignment 765
Clinical patterns 765
Dissociated vertical deviation (alternating sursumduction, occlusion hyperphoria) 765
Inferior oblique muscle overaction 765
Dissociated horizontal deviation 766
Latent nystagmus 766
Optokinetic asymmetry 766
Differential diagnosis 766
Ciancia syndrome 767
Nystagmus blockage syndrome 767
Does stability of preoperative alignment affect outcomes? 768
Measurement uncertainty 768
Non-surgical management 768
Timing of surgery: why early surgery? 769
Why delay primary surgery? 771
Surgical management 771
Review of botulinum and the rationale of its use 772
Postsurgical management 772
Conclusion 773
Acknowledgment 773
References 773
References 774.e1
75 The accommodative esotropias 775
Chapter contents 775
Characteristics 775
Classification 775
The accommodative convergence/accommodation ratio 776
Risk factors for accommodative esotropia 776
Clinical evaluation 776
Non-surgical treatment 776
Surgical treatment 777
Long-term prognosis 777
References 778
76 Special esotropias (acute comitant, sensory deprivation, myopia associated and microtropia) 779
Chapter contents 779
Acute comitant esotropia 779
Sensory deprivation esotropia 780
Myopia-associated esotropia 780
Microtropia 781
Synthesis 781
References 782
3 Exotropias 783
77 Intermittent exotropia 783
Chapter contents 783
Definition 783
Cause 783
Epidemiology 784
Clinical features 784
Quality of life in intermittent exotropia 784
Clinical evaluation 784
Assessing the control of intermittent exotropia 785
Measuring the deviation 785
Stereoacuity in intermittent exotropia 786
Differential diagnosis 786
Management of intermittent exotropia 786
Overminus lenses 786
Orthoptic/occlusion treatment 786
Chemodenervation 786
Surgical management 786
Surgical procedures 788
Desired early postoperative alignment 788
Other associations 788
Pattern deviations (see Chapter 80) 788
Lateral or horizontal incomitance 788
High AC/A ratio 789
Concomitant vertical deviations 789
Postoperative undercorrection 789
Postoperative overcorrection 789
References 791
References 791.e1
78 Special forms of comitant exotropia 792
Chapter contents 792
7 Common Practical Problems in a Paediatric Ophthalmology and Strabismus Practice 944
91 I think my baby can’t see! 944
History 944
Examination 944
References 947
92 My baby’s got a red eye, doctor! 948
The baby with a red and discharging eye 948
The baby with a painless red eye 948
The baby with a watery red eye 948
The baby with photophobia or blepharospasm and a red eye 948
References 949
93 The sticky eye in infancy 950
Ophthalmia neonatorum 950
Bacterial conjunctivitis 950
Viral and allergic conjunctivitis 950
Nasolacrimal duct obstruction 950
Lashes and lids 950
Malnutrition and other causes 950
References 951
94 Doctor, my baby’s eye looks strange 953
95 My baby has a lump in the lid 954
Rhabdomyosarcoma (see Chapter 24) 954
Dermoid (see Chapter 29) 954
Capillary hemangioma (see Chapter 20) 955
Chalazion (see Chapter 15) 956
Molluscum contagiosum and warts (see Chapter 19) 956
Stye/abscess 956
Other less common causes of lumps in the lid 956
Malignancies 956
Nevi (see Chapter 18) 956
Inflammatory lesions 956
Neural (see Chapter 65) 956
Other vascular lesions (see Chapter 20) 956
Miscellaneous 956
References 956
96 My child keeps blinking and closing his eye 957
Introduction 957
History 957
Examination 957
Tic disorder 957
Management 958
Ocular surface disorders 958
Ocular alignment/movement/refraction 958
Photoreceptor dystrophy 958
Other possibilities 958
97 My baby keeps closing one eye 959
Introduction 959
The approach to a case 959
Acute presentation 959
Sub-acute or chronic presentation 959
Unilateral or bilateral asymmetric eye closure 960
References 960
98 My child’s eyes are dry and sore 961
Introduction 961
Presentation and symptoms 961
History 961
Examination 962
Assessment 962
Visual acuity 963
External inspection 963
Ocular surface examination and staining patterns 963
Other tests 963
Schirmer’s test 963
Tear osmolarity 963
Impression cytology 963
Corneal sensation 964
Causes of dry eye 965
Management 965
General advice 965
Protection 965
Lubrication 965
Allergic eye disease 965
Cyclosporine A 965
Acetyl cysteine drops 966
Lid margin disease 966
Punctal occlusion: temporary or permanent 966
Glasses and moisture-retaining goggles 966
Contact lenses 966
Tarsorrhaphy: temporary, permanent 966
Salivary gland transplant 966
References 967
99 My child seems to hate the bright light 968
Presentation 968
The approach to a photophobic child 968
The pathophysiology of photophobia 968
Diseases causing photophobia 969
Conjunctivitis 969
Corneal disorders 969
Glaucoma 969
Uvea 969
Lens 970
Retina 970
Central nervous system 970
Strabismus 970
Physiological and functional 970
Management 970
References 970
100 My child’s eyes keep watering! 971
Signs and symptoms 971
History 971
Examination 971
External inspection 971
Slit-lamp examination 971
Fluorescein testing 971
Intraocular pressure 971
Cycloplegic refraction, fundus examination 972
Causes and treatment 972
Non-patent nasolacrimal drainage system (see Chapter 21) 972
Treatment 972
Foreign body/corneal abrasion 972
Keratitis and conjunctivitis (see Chapter 15) 972
Contact lens-related epiphora 972
Congenital glaucoma 972
Crocodile tears 973
References 973
101 Proptosis at different ages 974
102 My child seems to have a pain in the eye 975
Pain systems 975
Classification of eye pains 975
History 975
Examination 975
Other investigations 976
Headache 976
Refraction 977
Visual symptoms 977
Ocular symptoms 977
Referred symptoms 977
References 977
103 My child’s teacher says she can’t see properly! 978
Mode of presentation 978
Diagnosis 978
History 978
Examination 978
Ocular examination 978
Neurological examination 978
Causes and treatment 979
Amblyopia 979
Refractive errors 979
Accommodative anomalies 979
Orbital disease (see Chapter 22) 979
Media opacities 979
Corneal diseases (see Chapter 33) 979
Anterior chamber anomalies 979
Lens anomalies (see Chapter 35) 979
Vitreous disorders 980
Retinal disorders 980
Congenital vascular disorders (see Chapter 47) 980
Retinal dystrophies (see Chapter 44) 980
Systemic disease 980
Optic nerve diseases 980
Central nervous system diseases 980
Non-organic visual disorders 980
104 My child could see perfectly but now the vision is weak 981
Examination 981
Anterior segment 981
Cornea 981
Iris 981
Lens 981
Posterior segment 981
Vitreous 981
Retina/choroid 981
Optic nerve, chiasm, and optic tract 982
Central nervous system and cortical visual impairment 982
What if the eye exam is normal? 982
Electrophysiological tests (see Chapter 8) 983
Neuroimaging studies 983
105 The deaf-blind child 984
Background 984
Communication with dual sensory impaired 984
Neuroadaptation 984
Causes of deaf-blindness 984
Management 984
Resources 986
Deafblind UK 986
Sense 986
National Consortium on Deaf-Blindness 986
American Association of the Deaf-Blind 986
Organizations for Deafblind People Throughout the World 987
References 987
106 Optic atrophy in infancy and childhood 988
Presentation 988
Causes (Fig. 106.3) 988
History and examination 990
Further investigations 990
Prognosis 991
References 991
107 The swollen optic disc 992
108 Headache in children 1004
Introduction 1004
Classification and etiology 1004
When is a headache worrying? 1004
Chronic daily headaches 1005
Tension-type headaches 1005
Cluster headache and paroxysmal hemicrania 1005
Migraine 1005
Etiology and genetics of migraine 1006
Management of pediatric migraine 1007
Bio-behavioral strategies 1007
Acute therapies 1007
Preventative therapies 1007
Secondary headaches 1007
Epilepsy 1007
Preictal headaches 1007
Postictal headaches 1008
Raised intracranial pressure and idiopathic intracranial hypertension 1008
Brain tumor 1008
Infections 1008
Structural abnormalities 1008
Vascular abnormalities 1008
Summary 1008
References 1009
109 My little girl tells me she sees strange things 1010
Introduction 1010
Entoptic phenomena 1011
Photopsia and phosphenes 1011
Floaters (myodesopsia, mouches volantes) 1012
Benign blurred (“fuzzy”) vision 1012
Transient loss of vision 1012
Movement illusions (oscillopsia and Pulfrich phenomenon) 1012
Color (dyschromatopsia) 1012
Seeing multiples (monocular diplopia, triplopia, and polyopia) 1013
Size (micropsia, macropsia, teleopsia, lilliputianism) 1013
Distortion (dysmetropsia, metamorphopsia and “Alice in Wonderland syndrome”) 1013
Bradyopsia 1014
Visual perseveration and other rare cerebral visual disturbances 1014
Visual disturbances associated with migraine 1014
Hallucinations 1014
Hallucinations in darkness and with social deprivation 1014
Charles Bonnet syndrome (visual release phenomenon) 1014
Hypnagogic and hypnopompic hallucinations 1015
Occipital and temporal lobe epilepsy 1015
Peduncular hallucinosis 1015
Drug-induced hallucinations 1015
Psychogenic (“functional”) visual loss 1015
Medical conditions 1017
Psychiatric dis ease 1017
References 1017
110 My little boy isn’t doing as well as he should at school 1018
Possible reasons for poor school progress 1018
Global learning difficulty 1018
Specific learning difficulty 1018
Other developmental disorders 1018
Assessment and intervention 1019
The role of the ophthalmologist 1019
School difficulty in a child with visual impairment 1019
Distance access 1019
Near access 1019
111 My child’s pupils look odd! 1021
References 1023
112 Unequal pupils 1024
Horner’s syndrome 1024
Oculomotor palsy 1024
Structural anomalies 1024
Physiological anisocoria 1024
Pharmacological testing 1024
Slit-lamp examination 1024
Light and near reactions 1024
Refraction 1025
When to investigate Horner’s syndrome 1025
References 1025
113 Wobbly eyes in infancy 1026
Clinical “wave forms” 1026
Vision 1029
Further reading 1029
114 Practical problems: 1030
Introduction 1030
Nomenclature 1030
Patient history 1030
Characterization of the head position 1030
Examination 1031
Visual acuity/refraction 1031
External examination 1031
Ocular motility 1031
Other aspects of the examination 1031
Treatment 1032
Summary 1032
References 1032
115 Vital communication issues: 1033
Before the consultation 1033
During the consultation 1033
After the consultation 1034
Complaints and litigation 1035
Poor attendance 1035
Summary 1035
References 1035
116 Vital communication issues: 1036
Infants 1036
School-age children 1036
If all else fails 1037
Summary 1037
References 1037
117 My child just will not let me put the eye drops in! 1038
Introduction 1038
Causes of poor compliance 1038
Formulating a strategy 1038
Conclusions 1039
118 Hand defects and the eye 1040
Embryology 1040
Etiology 1040
References 1044
119 Contact lenses for children 1045
Lens insertion for a child 1045
Types of lenses 1045
Hygiene 1045
High prescriptions and aphakia 1045
High myopia 1045
What lens to fit? 1045
Unilateral ametropia 1045
Aphakia 1045
Congenital cataracts 1045
Procedure for lens fitting 1045
Index 1068
A 1068
B 1070
C 1072
D 1076
E 1077
F 1079
G 1080
H 1081
I 1082
J 1084
K 1084
L 1084
M 1085
N 1087
O 1089
P 1090
Q 1093
R 1093
S 1095
T 1098
U 1099
V 1099
W 1101
X 1101
Y 1101
Z 1101