Taylor and Hoyt's Pediatric Ophthalmology and Strabismus

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Taylor & Hoyt’sPediatricOphthalmologyand Strabismus
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Contents
Video contents
Foreword
Preface
List of Contributors
SECTION I Epidemiology, Growth, and Development
1
Epidemiology and world-wide impact of visual impairment in children
Introduction
Specific Issues in the Epidemiological Study of Visual Impairment in Childhood
Framing the Question
Who is a visually impaired child?
Measures of frequency and burden of childhood visual impairment
Potential Sources of Information About Visual Impairment
Impact of Visual Impairment
Visual Impairment in the Broader Context of Child Health and Childhood Disability
Multiple impairments
Mortality
Groups at high risk of visual impairment
Summary of Global Frequency and Causes of Childhood Visual Impairment
Prevalence estimates
Prevalence of VI in children
Magnitude of blindness in children
Incidence
Causes of visual impairment
Variation by region and over time
Other sources of variations in the pattern of causes
Prevention of Visual Impairment and Blindness in Childhood
The Role of Ophthalmic Professionals in Prevention of Childhood Visual Impairment
Vision 2020 and Universal Health Coverage
References
References
2
Clinical embryology and development of the eye
Developmental Biology Concepts and Processes
Differentiation
Cell migration
Programmed cell death
Signaling
Transcription factor codes
Eye Embryology and Development Overview
Eye embryogenesis
Eye organogenesis (4th to 8th week gestation, human)
Fourth week
Fifth week
Sixth week
Seventh week
Eighth week
Differentiation and Maturation of Elements
Cornea
Anterior chamber structures
Iris
Ciliary body
Trabecular meshwork
Pupillary membrane
Lens
Vitreous and hyaloid system
Retina and retinal pigment epithelium
Retinal vascularization
Optic nerve
Cranial nerves
Extraocular muscles
Lacrimal system
Eyelids
Emmetropization
Appendix: Gene Abbreviations
References
References
3
Normal and abnormal visual development
Introduction
Retinal Image Quality
Visual Acuity, Stereoacuity, And Fusion
Stereoacuity
Fusion
Ocular Motor Development
Fixation stability
Saccades and smooth pursuit
Vergence
Knock-On Effects Of Abnormal Visual Development
References
References
4
Milestones and normative data
Visual Acuity
Intercanthal Distance and The Eyelids
Tear Production
Cornea
Extraocular Muscles and Sclera
Angle Structures and Anterior Segment Optical Coherence Tomography
Intraocular Pressure
Lens
Pars Plana and Ora Serrata
Axial Length
Optic Nerve and Optical Coherence Tomography
Macula and Retina and Optical Coherence Tomography
Refraction, Corneal Curvature, and Astigmatism
Visual Field
Acknowledgments
References
SECTION II Core Practice
5
Examination, history, and special tests in pediatric ophthalmology
Assent and Consent
IT’S all About the Child
The Equipment
History: Include the Child
A No-Touch Approach at First
Say “Hi!”
Observe
Head/body posture
Visual behavior
Where to place the child for the examination
Parents as a resource
Targeted Examination
The Brückner test
Binocularity: first no dissociation
Vision assessment
Dynamic retinoscopy
Versions, ductions, null position
Next Step: Touching and Other Methods of Annoying the Child – the Second Part of the Examination
Use the company
Pupils and corneal diameter
Lids
Binocularity
Confrontation fields
Strabismus assessment
Slit-lamp examination
Refraction
Intraocular pressure measurement
Fundus examination
Finally: Rewarding Success
A few Words on Virtual Visits
References
6 Managing refractive errors in children
Introduction
Diagnosis of Refractive Errors in Children
Cycloplegia
Techniques
Cycloplegic retinoscopy
Dynamic retinoscopy
Autorefraction
Post-cycloplegic subjective refraction
Corneal topography
Ocular biometry
Common Refractive Errors in Children
Hyperopia/hypermetropia
Myopia
Astigmatism
Treatment of Refractive Errors in Children
Spectacles
Contact lenses
Indications for contact lenses in children
Lens selection
Lens fitting
Application, removal, and care of contact lenses in children
Safety of contact lenses in children
Refractive surgery
Myopia Control
Atropine
Contact lens
Overnight corneal reshaping therapy (orthokeratology) (OOK)
Soft multifocal contact lenses
Acupuncture
Collagen cross-linking
References
7
Pediatric visual electrophysiology – objective measurement of visual function
Introduction
Standard Tests and Guidelines in Visual Electrophysiology
The Tests – the Electrophysiological Toolkit
Chair Time for a Child
Which test to request?
W­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­­ ...
The electro-oculogram (EOG)
Light-adapted and dark-adapted full-field (ff) ERG – assesses the whole retina
mfERG and PERG test localized areas of retina
mfERG
PERG
The VEP to pattern reversal, pattern onset–offset, and flash stimulation
The VEP and Visual Acuity
Prognosis
Overview
References
8
Imaging the child’s eye
Introduction
Photography
External photography
Anterior segment photography
Fundus photography
Wide-field fundus imaging
Red-free fundus photography
Infrared fundus photography
Confocal Microscopy
Corneal Topography
Slit-scanning elevation topography
Scheimpflug imaging
Ultrasonography
Anterior segment ultrasound (ultrasound biomicroscopy)
Posterior segment ultrasound
Ultrasound findings in selected ocular disorders
Orbital ultrasound
Ultrasound pachymetry
Fundus Autofluorescence
Angiography
Fluorescein angiography
Indocyanine angiography
Optical Coherence Tomography
Technology
Artifacts
Macular analysis
Retinal nerve fiber layer
Anterior segment
OCT angiography
Scanning Laser Ophthalmoscopy
References
9
Orbit and visual pathway imaging
Introduction
Pre-Imaging Multidisciplinary Collaboration
1. What is the information we need? What are the clinical questions we are trying to answer?
Patient age
History
Symptoms
Timing
Physical examination findings
Ophthalmoscopy findings
Known diagnosis
Possible need for additional specialist consultation
2. What imaging modality is best for the patient, and should we give intravenous contrast?
3. What imaging techniques within that modality would maximize the diagnostic yield?
Field of view
Spatial resolution
Contrast resolution
Noise
Artifact
Safety
Temporal resolution
4. How do we weigh the risks and benefits regarding radiation exposure and need for sedation?
Post-Imaging Multidisciplinary Collaboration
References
10
Genetics and pediatric ophthalmology
Introduction
Genetic Disorders
Autosomal dominant inheritance
Autosomal recessive inheritance
X-linked inheritance
Complications to the basic Mendelian pedigree patterns
Mitochondrial inheritance
Heterogeneity in genetic disorders
Multifactorial disorders
Epigenetics
Variants and Mutations
Genetic Testing
Genetic Counseling And Ethical Issues
Pre-Test Considerations
Informed consent
Post-test considerations
Presymptomatic and carrier testing
Conclusions
References
References
SECTION III Infections, Allergic and External Eye Disorders
11
Ocular manifestations of intrauterine infections
Introduction
Cytomegalovirus
Syphilis
Toxoplasmosis
Rubella
Rubella cataract
Zika
Herpes Simplex Virus
Other
References
References
12
Conjunctivitis of the newborn
Prophylaxis
Chemical Conjunctivitis
Chlamydial Conjunctivitis
Gonococcal Conjunctivitis
Other Bacterial Conjunctivitis
Herpetic Conjunctivitis
Neonatal Conjunctivitis in the Hospital
Laboratory Testing
Acknowledgment
References
13
Preseptal and orbital cellulitis
Anatomy and Terminology
Classification
Preseptal Cellulitis
Clinical assessment
History
Examination
Management
Orbital Cellulitis
Etiology
History
Examination
Management
Steroids in orbital cellulitis
Orbital imaging
Microbiology of Preseptal and Orbital Cellulitis
Subperiosteal and Orbital Abscess
Osteomyelitis of the superior maxilla
Cavernous Sinus Thrombosis
References
14
Endophthalmitis
Clinical Presentation
Exogenous Bacterial Endophthalmitis
Trauma
Cataract surgery
Glaucoma filtration surgery
Strabismus surgery
Intravitreal injection
Prevention
Management
Endogenous Bacterial Endophthalmitis
Exogenous Fungal Endophthalmitis
Endogenous Fungal Endophthalmitis
References
15
External eye disease and the oculocutaneous disorders
Blepharokeratoconjunctivitis
Pathogenesis of blepharokeratoconjunctivitis
Treatment of blepharokeratoconjunctivitis
Other uncommon causes of chronic blepharokeratoconjunctivitis
Conjunctivitis
Acute conjunctivitis
Hyperpurulent conjunctivitis
Membranous conjunctivitis
Diagnosis and investigation of conjunctivitis
Systemic treatment for bacterial conjunctivitis
Viral infectious keratoconjunctivitis
Adenoviral keratoconjunctivitis
Herpes simplex blepharoconjunctivitis
Acute hemorrhagic conjunctivitis
Chlamydia conjunctivitis
Trachoma
Chronic follicular conjunctivitis
Molluscum contagiosum
Cat scratch disease
Ophthalmia nodosa
Conjunctival folliculosis
Vernal keratoconjunctivitis
Clinical features
Corneal changes
Associated disease
Disease mechanisms
Management
Stevens–Johnson syndrome and toxic epidermal necrolysis
Management of SJS/TEN
Graft-versus-host disease
Inherited abnormalities of the epidermal structure
Ectodermal dysplasia
Inherited ichthyosis
Incontinentia pigmenti
Corneal limbus stem cell failure (ocular surface failure)
Aniridic keratopathy
Management of severe ocular surface disease
Toxic and hypersensitivity keratoconjunctivitis
Corneal or conjunctival artefacta
Ligneous conjunctivitis
Keratitis
Microbial keratitis
Initial examination
Investigation
Treatment
Choice of initial antibiotics
Sterilization phase
The healing phase
Use of topical corticosteroids
Progressive or indolent microbial keratitis
Herpes simplex virus keratitis
Management
Herpes zoster ophthalmicus
Management
Hereditary benign intraepithelial dyskeratosis
References
SECTION IV Systematic Pediatric Ophthalmology
PART ONE Disorders of the Eye as a Whole
16
Disorders of the eye as a whole
Development of the Eye
Microphthalmia–Anophthalmia–Coloboma (MAC)
Anophthalmia
Microphthalmia
Simple non-colobomatous microphthalmia
Colobomatous microphthalmia
Syndromic microphthalmia
Microphthalmia with orbital cyst
Genetic etiology of anophthalmia and microphthalmia
SOX2 (SRY-Box 2)
PAX6 (Paired Box Gene 6)
PAX2 (Paired Box Gene 2)
VSX2 (Visual System Homeobox 2)
FOXE3 (Forkhead Box E3)
OTX2 (Orthodenticle, Drosophila, Homolog of, 2)
BMP4 (Bone Morphogenetic Protein 4)
ALDH1A3 (Aldehyde Dehydrogenase 1 Family, A3)
Chromosomal abnormalities associated with anophthalmia and microphthalmia
Other Disorders of the Eye as a Whole
Nanophthalmos and posterior microphthalmia
Cyclopia and synophthalmos
Clinical Evaluation and Management of Patients with MAC Spectrum of Malformations
Genetic Testing
References
References
PART TWO Lids, Brows, and Oculoplastics
17
Lids: Congenital and acquired abnormalities − practical management
Introduction
Management of Congenital Lid Conditions
Lid coloboma
Cryptophthalmos
Ablepharon
Ankyloblepharon
Euryblepharon
Epiblepharon
Epicanthus
Ectropion
Eversion
Congenital entropion
Tarsal kink/upper lid entropion
Congenital distichiasis
Telecanthus
Blepharophimosis–ptosis–epicanthus inversus syndrome
Congenital and Acquired Ptosis
History and examination
Treatment
Specific conditions
Lid Retraction in Infancy
Seventh Nerve Palsy
Corneal exposure
Epiphora (see Chapter 18)
Cosmesis
Lid Tumors
Nevi
Molluscum contagiosum
Juvenile xanthogranuloma
Complex choristoma
Pilomatrixoma (calcifying epithelioma of Malherbe)
Lid hamartoma
Meibomian Gland Diseases
Chalazia (meibomian cysts)
Acute blepharitis
Chronic blepharitis
Lid lice
Demodex mites
Trichiasis
Anophthalmic Socket Management
Congenital anophthalmia and microphthalmia
Acquired anophthalmia
Orbital volume expansion
Discharging sockets
Lid and Adnexal Trauma (see Chapter 70)
Etiology
Traumatic ptosis
Lacrimal drainage injuries
Medial canthal tendon injuries
Eyelid burns
Acknowledgments
References
18
The lacrimal system
Introduction
The Lacrimal Gland and Disorders
Development of the lacrimal gland
Overview of the anatomy and physiology of the lacrimal gland
Pediatric dry eye disease
Ectopic LG
Dacryoadenitis in childhood
The Lacrimal Drainage System
Congenital nasolacrimal duct obstruction (CNLDO)
Congenital dacryocystocele
Punctal agenesis
Incomplete punctal canalization
Canalicular wall dysgenesis
Pediatric punctal stenosis
Congenital lacrimal fistula
Pediatric hemolacria
Pediatric acute dacryocystitis
Pediatric acquired nasolacrimal duct obstruction
Pediatric dacryocystorhinostomy
References
PART THREE Orbit
19
The management of orbital disease in children
Orbital Disease and Age
Clinical Assessment
History
Examination
Investigations
Radiology
Plain X-rays
Computed tomography (CT) and magnetic resonance imaging (MRI)
Surgery
References
20
Vascular diseases of the orbit
Vascular Malformations
Lymphatic-venous malformations (LVM, previously often called lymphangioma)
Superficial
Deep
Investigation.
Management
Venous malformations
Arteriovenous malformations (AVM)
Arteriovenous fistula
Sturge–Weber syndrome (SWS) (see Chapters 36 and 68)
Rare vascular lesions of the orbit
Non-traumatic subperiosteal hemorrhage
Klippel–Trénaunay–Weber syndrome (see Chapter 68)
Blue rubber bleb nevus syndrome
Tumors
Infantile periocular hemangioma (capillary hemangioma)
Clinical features
Investigation
Management
Multifocal infantile hemangiomas (previously diffuse neonatal hemangiomatosis)
Hemangiopericytoma/solitary fibrous tumor
References
21
Neurogenic tumors of the orbit
Introduction
Fundamental Science
Basic anatomy and origin of primary orbital neurogenic tumors
Pediatric versus adult orbital neurogenic tumors
Neurofibromatosis (NF1 and NF2)
Optic Pathway Gliomas
Pathogenesis
Epidemiology
Clinical presentation
Investigations
Differential diagnosis
Management
Anterior (optic nerve) gliomas
Posterior (intracranial) optic pathway gliomas
CT.
MRI.
Prognosis
Primary Optic Nerve Meningiomas
Pathogenesis
Epidemiology
Clinical presentation
Investigations
Differential diagnosis
Management
Orbital Neurofibromas
Pathogenesis
Epidemiology
Clinical presentation
Plexiform neurofibromas
Isolated neurofibromas
Diffuse neurofibromas
CT and MRI.
Investigations
Differential diagnosis
Management
Pathogenesis
Orbital Schwannomas (Neurilemmomas)
Epidemiology
Clinical presentation
Investigations
Differential diagnosis
Management
Prognosis
Perineurioma
Peripheral Nerve Sheath Malignancies (PNSM)
Pathogenesis
Epidemiology
Clinical presentation
Investigations
Management
Paragangliomas
references
22
Orbital rhabdomyosarcoma
General Points
Clinical Features
Diagnostic Approaches
Imaging
Magnetic resonance imaging
Computed tomography
Biopsy
Pathology
Genetics
Classification
Intergroup Rhabdomyosarcoma Study (IRSG)
AJCC classification
Management
Historical aspects
Surgery
Chemotherapy
Radiotherapy
Prognosis
Summary
References
23
Other mesenchymal abnormalities
Introduction
Dysplasias
Fibrous dysplasia of the orbit
Clinical and radiologic features
Management
Other Craniofacial–Orbital Dysplasias
Giant Cell and Tumor-Like Lesions
Giant cell tumor (GCT)
Giant cell reparative granuloma (GCRG)
Aneurysmal bone cyst
Neoplasias
Osteoma
Juvenile ossifying fibroma (JOF)
Osteoblastoma
Post-irradiation osteosarcoma of the orbit (also see Chapter 42)
Other Bone Disorders
Infantile cortical hyperostosis (Caffey disease)
Osteopetrosis (“marble bone disease”)
Other rare bone disorders
References
References
24
Metastatic, secondary, and lacrimal gland tumors
Metastatic Disease
Neuroblastoma
Biology and genetics
Clinical presentation
Ophthalmic and orbital features
Presentation
Treatment
Ewing sarcoma
Secondary Disease
Retinoblastoma (see Chapter 42)
Malignant melanoma
Other Secondary Orbital Tumors
Lacrimal gland tumors
Acknowledgment
References
25
Histiocytic, hematopoietic, and lymphoproliferative disorders
Introduction
Langerhans Cell Histiocytosis
Juvenile Xanthogranuloma (JXG)
Rosai–Dorfman Disease (RDD)
Leukemia
Lymphoma
References
26
Craniofacial abnormalities
Craniofacial Clefts
R
egional classifications
Area 1: Median facial cleft syndrome (Fig. 26.2).
Area 2: Medial canthal/nasolacrimal clefts (Fig. 26.4).
Area 3: Eyelid clefts (Fig. 26.5).
Area 4: Lateral canthal clefts (Fig. 26.6).
Craniofacial microsomia
Etiology
Clinical features
Ocular and adnexal anomalies
Treacher Collins syndrome
Craniofacial features
Ocular and adnexal associations
Additional features
Acrofacial dysostosis
Ectodermal dysplasia syndromes
Ectrodactyly–ectodermal dysplasia–clefting (EEC) syndrome
Ocular and adnexal involvement.
Ankyloblepharon–ectodermal dysplasia–clefting (AEC) syndrome
Amniotic band syndrome
O
cular and adnexal abnormalities.
Ophthalmologist’s role in the craniofacial team
Management
Craniofacial surgery complications
Craniosynostosis
Pathophysiology
Effects on the skull
Genetics and pathogenesis19,20
Effects on intracranial pressure, the brain, and optic nerve
Effects on the orbit
Management
Diagnosing CS26
Management by the craniofacial team
CS surgery complications
Ophthalmic management in craniosynostosis
Vision loss
Strabismus
Acknowledgment
References
27
Cystic lesions and ectopias
Cystic Lesions
Dermoid cyst
Superficial dermoids
Deep dermoids
Conjunctival cysts
Respiratory epithelial cysts
Orbital meningocele and meningoencephalocele (see also Chapter 26)
Paranasal sinus mucocele
Congenital cystic eyeball (anophthalmos with cyst) (see Chapter 16)
Microphthalmos with cyst
Clinical presentation
Management
Orbital teratoma
Lacrimal ductal cyst
Parasitic cysts
Echinococcosis (hydatid cyst)
Ectopias
Dermolipoma
Ectopic lacrimal gland
Ectopic brain in the orbit
Epibulbar osseous choristoma
Phakomatous choristoma
References
References
28
Inflammatory disorders
Introduction
Thyroid-Associated Orbitopathy
Specific Causes of Orbital Inflammation
Granulomatosis with polyangiitis (GPA, previously called Wegener granulomatosis)
Clinical features
Sarcoidosis
IgG4-related ophthalmic disease (IgG4-ROD)
Idiopathic (Non-Specific) Orbital Inflammation (IOI)
Definition
Anterior idiopathic orbital inflammation: acute and subacute
Diffuse idiopathic orbital inflammation: acute and subacute
Anterior and diffuse non-specific orbital inflammatory syndromes: differential diagnoses and management
Idiopathic orbital myositis
Idiopathic lacrimal gland inflammation (dacryoadenitis): acute and subacute
References
PART FOUR External Disease and Anterior Segment
29
Conjunctiva and subconjunctival tissue
Anatomy
The Conjunctiva in Systemic Disease
Vitamin A deficiency
Xeroderma pigmentosum
Sturge–Weber syndrome
Ichthyosis
Measles keratoconjunctivitis
Ataxia telangiectasia (Louis-Bar syndrome)
Osler–Weber–Rendu syndrome (hereditary hemorrhagic telangiectasia)
Sickle cell disease
Ocular cicatricial pemphigoid (OCP)
Miscellaneous Disorders of Conjunctiva
Pyogenic granuloma
Subconjunctival hemorrhage
Conjunctival inclusion cyst
Conjunctival granulomas
Parasitic infestation of the conjunctiva
Ophthalmomyiasis
Conjunctival trauma and foreign bodies
Symblepharon
References
30
Conjunctival tumors
Anatomy
Examination
Classification
Specific Tumors
Hamartoma
Choristoma
Papilloma
Keratoacanthoma
Hereditary benign intraepithelial dyskeratosis
Conjunctival intraepithelial neoplasia/squamous cell carcinoma
Ocular melanocytosis
Nevus
Primary acquired melanosis
Melanoma
Lymphangiectasia
Lymphatic venous malformations (lymphangioma)
Rhabdomyosarcoma
Kaposi sarcoma
Xanthogranuloma
Lymphoid tumors
Leukemic tumors
Non-neoplastic lesions simulating conjunctival tumors
References
31
Anterior segment developmental anomalies
Introduction
Gene Mutations Causing Anterior Segment Developmental Anomalies
Gene Expression in the Developing Anterior Segment: Sites of Gene Action
Clinical Conditions Due to Anterior Segment Developmental Anomalies
Anterior segment developmental anomalies of neural crest cell origin
Posterior embryotoxon
Axenfeld–Rieger anomaly and syndrome
CYP1B1 cytopathy
Congenital iris ectropion
Congenital mydriasis
Congenital hereditary endothelial dystrophy (CHED)
Posterior polymorphous dystrophy
Primary congenital glaucoma
ICE syndromes
Brittle cornea syndrome
Anterior segment developmental anomalies of ectodermal origin
Anterior segment developmental anomalies of a global origin
Congenital megalocornea
Microcornea
Developmental anomalies affecting corneal clarity
Aniridia
Peters anomaly
Sclerocornea
Cornea plana
Autosomal dominant keratitis
Management Options for Anterior Segment Developmental Anomalies
Alternatives to PKP
References
32
Corneal abnormalities in childhood
Abnormal Corneal Shape
Keratoconus
Brittle cornea syndrome
Blue sclera
Abnormal Corneal Diameter
Increased diameter
Buphthalmos
X-linked megalocornea (MGC1)
Microcornea
Corneal Opacity
Superficial keratopathy
Thygeson superficial punctate keratitis
Corneal deposits and crystals
Cystinosis
Secondary lipid deposition
Corneal arcus
Corneal Vascularization
Epibulbar Dermoid
Aniridic keratopathy
Ectodermal dysplasia
Prominent Corneal Nerves
Neurotrophic Keratitis
Treatment in infancy
Treatment in childhood
Corneal Degeneration
Band-shaped corneal degeneration
Dermatological associations
Recurrent corneal epithelial erosion
Interstitial keratitis
Keratomalacia
Corneal exposure
Corneal Dystrophies
Epithelial and subepithelial dystrophies
Meesmann epithelial corneal dystrophy (MECD)
Epithelial recurrent erosion dystrophy (ERED)
Gelatinous drop-like corneal dystrophy (GDLD)
Anterior stromal and stromal dystrophies
TGFBI-associated corneal dystrophies
Schnyder corneal dystrophy
Macular corneal dystrophy
Fleck corneal dystrophy (FCD)
Congenital stromal corneal dystrophy (CSCD)
Cornea plana type 1 (CNA1)
Cornea plana type 2 (CNA2)
Endothelial dystrophies
Fuchs endothelial corneal dystrophy (FECD) type 1
Posterior polymorphous corneal dystrophy
Congenital hereditary endothelial dystrophy
Important clinical phenocopies
Clinical investigation
Systemic investigation and referral
Patient Management
Genetic Confirmation, Family Management, and Counseling
References
33
Corneal surgery
Introduction
General Considerations and Preoperative Assessment
Penetrating Keratoplasty (PKP)
Clinical outcomes of pediatric penetrating keratoplasty
Endothelial Keratoplasty
Keratoprosthesis
Deep Anterior Lamellar Keratoplasty
Optical Iridectomy
Limbal Dermoid Excision
Corneal Neurotization
Corneal Crosslinking
Surgical Management of Stevens–Johnson Syndrome
References
34
The lens
Anatomy
Embryology
Developmental Abnormalities of the Lens
Congenital aphakia
Microspherophakia
Lens duplication
Lens coloboma
Lenticonus and lentiglobus
Persistent fetal vasculature (PFV)
Ectopia Lentis
Marfan syndrome and the type-1 fibrillinopathies
Homocystinuria
Weill–Marchesani syndrome
Ectopia lentis et pupillae
Aniridia (see Chapter 38) and congenital glaucoma (see Chapter 36)
Megalocornea
Ehlers–Danlos syndrome
Trauma
Sulfite oxidase deficiency and molybdenum cofactor deficiency
Xanthine oxidase deficiency
Management of Ectopia Lentis
When to operate on a subluxated lens
References
35
Childhood cataracts
Detection
Morphology
Persistent Fetal Vasculature
Etiology
Bilateral
Unilateral
History
Ocular Examination
Laboratory Work-Up
Management
Nonsurgical: patching, dilation
Surgical
Surgical techniques
Optical correction
Contact lenses
Spectacles
Intraocular lenses
Postoperative care
Postoperative Complications
Amblyopia (see Chapter 74)
Visual axis opacities
Glaucoma (see Chapter 36)
Strabismus
IOL complications
Irregular pupil
Heterochromia iridis
Endophthalmitis
Retinal hemorrhages and detachment
Cystoid macular edema
Corneal edema
Visual Outcomes
References
36
Childhood glaucoma
Introduction
Clinical Presentation
Differential Diagnosis
Classification
Primary childhood glaucoma
Primary congenital glaucoma
Demographics.
Genetics.
Pathogenesis.
Gonioscopic findings.
Treatment.
Juvenile open angle glaucoma (JOAG)
Secondary childhood glaucoma
Glaucoma associated with non-acquired ocular anomalies
Glaucoma associated with non-acquired systemic diseases or syndromes
Glaucoma associated with acquired conditions
Glaucoma following cataract surgery
Intraocular pressure measurement
Anterior segment examination
Corneal diameter measurement
Central corneal thickness
Gonioscopy
Posterior segment examination
Refraction
Examination under anesthesia (EUA)
Ultrasound
Visual fields
Quantitative optic disc imaging
Interpretation of findings
Assessment
Treatment
Medical therapy
Beta-blockers
Carbonic anhydrase inhibitors
Prostaglandin analogs
Sympathomimetics
Parasympathomimetics
Surgical therapy
Angle surgery
360° circumferential trabeculotomy.
Goniotomy.
Trabeculotomy (combined with trabeculectomy).
Trabeculectomy.
Glaucoma drainage devices (GDDs)
Cyclodestruction
Refractive correction and amblyopia therapy
Acknowledgments
References
References
PART FIVE The Uvea
37
Pediatric iris disorders
Introduction
Anatomy, Including Variation In Normal Anatomy
Physiology Including Innervation: Role Of Iris Sphincter
Embryology and Genetics: Role of Genes In Iris Development
Examination Of The Iris
Color
Shape
Pattern
Sphincter
Masses (solid or cystic)
Pigment disturbance
Investigations
Developmental Disorders
Coloboma
Cobb’s tufts
Persistent pupillary membrane (PPM)
Iris cysts
Iris floccules and congenital mydriasis in ACTA2 mutation
The Iris In Systemic Disease/Genetic Disorders
Albinism (see also Chapter 40)
Waardenburg syndrome
NF1 – Lisch nodules
Trisomy 21 – Brushfield spots
Aniridia (see Chapter 38)
Acquired Disorders Of The Iris
JXG (juvenile xanthogranuloma) of the iris
Uveitis
Ectropion uveae
Infiltrative disorders
Iris neovascularization
Iris trauma
Medulloepithelioma of the iris/ciliary body
Iris melanoma
Spontaneous hyphema
References
38
Aniridia syndrome
Introduction
Clinical Presentation
Iris abnormalities
Foveal architecture
Lens opacity
Increased intraocular pressure
Keratopathy
Optic nerve
Aniridia fibrosis syndrome
Systemic features
WAGR syndrome (OMIM 194072)
Genetics
PAX6 mutation spectrum
Intragenic loss-of-function variants
Missense variants
C-terminal extension variants
Chromosomal rearrangements and large deletions
Non-coding variants affecting the regulation of PAX6
PAX6 mutations causing other non-aniridia syndrome phenotypes
Differential Diagnosis
Gillespie syndrome (OMIM 206700)
Anterior segment dysgenesis
Other causes of iris hypoplasia or atrophy
Management and Treatment
Clinical findings suggestive of aniridia syndrome
Establishing the diagnosis
Surveillance and treatment options
Early life
Cataract
Glaucoma
Ocular surface disease
Aniridia fibrosis syndrome
Neurological symptoms
New Therapies Under Investigation
References
39
Uveitis
Introduction
Cause of Uveitis
Autoimmune diseases associated with uveitis
Immune dysregulation in uveitis and treatment choice
Classification of clinical patterns of uveitis
General Considerations for Management
Diagnosis of systemic inflammation
Biomarkers for screening and disease monitoring
Specialist investigation of genetic disorders
General considerations
Primary immunodeficiencies and autoinflammatory syndromes
Genetic testing in polygenic autoimmune disease
Evaluation for neuroinflammatory disease
Organization of service
Epidemiology of pediatric uveitis and vasculitis
Epidemiology of vasculitis
Epidemiology of primary immunodeficiencies
Clinical Types of Uveitis (See Table 39.5)
Idiopathic uveitis
Painful anterior uveitis
Painless anterior uveitis
Intermediate uveitis
Retinitis
Retinal vasculitis
Frosted branch angiitis
Neuroretinitis
Panuveitis and multifocal choroiditis
Post-traumatic uveitis
Sympathetic ophthalmia
Lens-induced uveitis
Infectious and parainfectious uveitis
Tuberculosis
Post-streptococcal uveitis
Localized Autoinflammatory Diseases and Uveitis
Juvenile idiopathic arthritis (JIA)
Epidemiology
Risk factors for CAU and screening
Investigation of JIAU-like CAU
Other JIA types: systemic, psoriatic, and enthesis-related arthritis
Screening guidelines
Monitoring
Clinical signs
Course
Indications for treatment and outcome measurement
Glaucoma
Behçet’s disease
Systemic features
Ocular features
Haploinsufficiency of A20
Sarcoidosis and Blau syndrome
Systemic features
Ocular features
Inflammatory bowel disease
Vogt–Koyanagi–Harada syndrome
Systemic features
Ocular features
Tubulointerstitial nephritis and uveitis syndrome
Systemic features
Ocular features
Uveitis and other renal disease
Uveitis with neuroinflammation
Multiple sclerosis
Rasmussen syndrome
Inflammatory optic neuropathy
Lymphoproliferative and IMMUNODEFICIENCY Disorders
Orbital inflammation and IgG4 disease
Ocular inflammatory disease in primary immunodeficiency disorders
Immunodeficiencies associated with chronic Epstein–Barr virus
Monogenic autoinflammatory disorders (mAIDs)
Specific monogenic autoinflammatory disorders
Inflammasomopathies
Pyrinopathies or NLRP1-related and TNF-receptor-associated periodic syndrome.
Cryopyrinopathies.
Ocular features.
Type 1 interferonopathies
Systemic
CANDLE
SAVI
Vasculitides
Classification of systemic and ocular vasculitis
Retinal vasculitis and other retinal and choroidal vascular disorders
Signs of ocular vasculitis
Ocular
Large vessel vasculitis (greater than 150 micrometers)
Takayasu disease
Systemic.
Ocular.
Medium vessel vasculitis (50–150 micrometers)
Polyarteritis nodosa (PAN)
Systemic.
DADA2 disease
Ocular.
Sneddon syndrome and Sweet’s disease
Kawasaki disease
Systemic.
Ocular.
Small vessel vasculitis (<50 micrometers)
ANCA-associated vasculitides (AAV)
Granulomatous polyangiitis (formerly Wegener’s granulomatosis), PR3-related
Systemic.
Ocular.
Other AAV
Microscopic polyangiitis (MPA) or MPO-related AAV.
Eosinophilic granulomatous polyangiitis (EGPA).
Small vessel vasculitides with immune complexes
Vasculitis associated with systemic disease
Systemic lupus erythematosus
Systemic.
Ocular.
Scleroderma
Systemic.
Ocular.
Sjögren syndrome
Dermatomyositis and polymyositis
Relapsing polychondritis
Systemic.
Ocular.
Variable vessel vasculitides
Cogan syndrome
Systemic (see also Chapter 32).
Ocular.
Single organ vasculitis, excluding ocular inflammatory disease
CNS vasculitis
Measures of treatment effectiveness
Effectiveness of present treatments
Treatment of Uveitis
Treatment of chronic anterior uveitis
Types of treatment – conventional immunosuppressants
Targeted synthetic treatments and biologics
Choice of biologic
Treatment of Vasculitis
TREATMENT OF GLAUCOMA
Surgical Treatment
Cataracts
Glaucoma
References
References
40
Albinism
Introduction
Classification of Albinism by Genes Affected
Non-syndromic oculocutaneous albinism
Syndromic oculocutaneous albinism
Ocular albinism
Clinical Phenotype
Ocular features
Reduced visual acuity
Nystagmus
Iris transillumination
Foveal hypoplasia
Strabismus and positive angle kappa
Neurophysiological alterations
Cutaneous features
Differential Diagnoses
Management
Making the diagnosis
Genetic counseling
Educational needs
Social issues
Follow-up eye care
Skin care
Treatment
References
References
PART SIX Retinal and Vitreous Disorders
41
Vitreous
Introduction
Developmental Anomalies of the Vitreous
Persistent hyaloid artery (see Chapter 34)
Vitreous cysts
Persistent fetal vasculature (persistent hyperplastic primary vitreous) (see Chapter 34)
Vitreoretinal Dysplasia
Norrie disease
Clinical and histologic findings
Molecular genetics and pathogenesis
Management
Chromosomal abnormalities and vitreoretinal dysplasia
Walker–Warburg syndrome (HARD ± E) and related syndromes (the dystroglycanopathies)
Clinical findings
Molecular genetics and pathogenesis
Autosomal recessive vitreoretinal dysplasia
Osteoporosis–pseudoglioma syndrome (OPS)
Clinical findings
Molecular genetics and pathogenesis
Oculopalatal–cerebral dwarfism
Unilateral retinal dysplasia
Inherited Vitreoretinal Disorders (See Also Chapter 51)
Wagner syndrome and erosive vitreoretinopathy (VCAN-related vitreoretinopathy)
Clinical findings
Molecular genetics
Stickler syndrome (see also Chapter 51)
Clinical findings
Molecular genetics and pathogenesis
Myelinated nerve fibres, vitreoretinopathy, and skeletal malformations
X-linked retinoschisis (XLRS) (see Chapter 50)
Clinical findings
Molecular genetics
Familial exudative vitreoretinopathy (FEVR)
Autosomal dominant familial exudative vitreoretinopathy (AD-FEVR)
Clinical findings
Molecular genetics and pathogenesis
X-linked familial exudative vitreoretinopathy
Clinical findings
Molecular genetics and pathogenesis
Autosomal recessive familial exudative vitreoretinopathy
Molecular genetics and pathogenesis
Other inherited disorders with incomplete retinal vascularization
Incontinentia pigmenti (Bloch–Sulzberger syndrome)
Clinical and histologic findings
Molecular genetics and pathogenesis
Microcephaly and FEVR
Telomere biology disorders
Dyskeratosis congenita (DC) and Revesz syndrome
Coats plus disease
Adams-Oliver syndrome
Autosomal dominant vitreoretinochoroidopathy (ADVIRC)
Clinical and histologic findings
Molecular genetics and pathogenesis
Autosomal dominant neovascular inflammatory vitreoretinopathy
Clinical findings
Molecular genetics
Autosomal dominant snowflake degeneration
Molecular genetics and pathogenesis
Acquired Disorders of the Vitreous
Vitreous hemorrhage (Box 41.3)
Inflammatory disease of the vitreous
Vitreous opacity due to tumor
References
References
42
Retinoblastoma
Epidemiology
Genetics
Genetic presentations of retinoblastoma
Genetic testing and counseling
Genetic counseling
Pathology
Diagnosis
Clinical features
Clinical features at presentation
Clinical features of treated retinoblastoma
Clinical examination and imaging
Classification
Associated Diseases
Differential Diagnosis
Other Forms Of Retinoblastoma
Retinoma
Orbital retinoblastoma
Metastatic retinoblastoma
Trilateral retinoblastoma
Treatment
Intravenous chemotherapy
Intra-arterial chemotherapy
Intravitreal and intracameral chemotherapy
Focal treatments
Cryotherapy
Hyperthermia
Photocoagulation
Plaque radiotherapy (brachytherapy)
External beam radiotherapy
Enucleation
Life-Long Follow-Up And Prognosis
Perspective
References
43
Retinopathy of prematurity: pathophysiology and screening
Introduction
Retinal Vascular Development
Pathogenesis
Phase I ROP: vaso-obliteration
Phase II ROP: vasoproliferation
Risk Or Associated Factors
Classification
Location
Severity of disease
Stage 1
Stage 2
Stage 3
Stage 4
Stage 5
Plus disease
Pre-plus disease
Aggressive ROP (A-ROP)
Extent
Regression and resolution
Prethreshold and Threshold ROP
Incidence and Prevalence
Natural History
Age at onset and rate of progression
Zone and site of involvement
Plus disease
Retinopathy of Prematurity Screening
High-income countries
Low- and middle-income countries
Timing of examinations
Methods of examination
Clinical findings
Predicting severe ROP through postnatal weight gain
Telemedicine and retinopathy of prematurity
Automated Diagnosis of Retinopathy of Prematurity
Involving Parents
Outcomes
References
References
44
Current treatment of retinopathy of prematurity
Introduction
When to Treat ROP
Management Of Non-“Treatment-Requiring” ROP
Treatment For Type 1 ROP
The ideal therapy
Laser photocoagulation
Anti-vascular endothelial growth factor (anti-VEGF) therapy for type 1 ROP
Surgical therapy for stage 4/5 ROP
Conclusion
Acknowledgment
References
References
45
Inherited retinal disorders
Introduction
Stationary Retinal Dysfunction Syndromes
Stationary night blindness
Congenital stationary night blindness
Clinical findings.
Electrophysiology.
Molecular genetics and pathogenesis.
Autosomal dominant CSNB.
X-linked CSNB.
Autosomal recessive CSNB.
Åland Island eye disease.
Other related phenotypes.
Oguchi disease
Clinical findings.
Electrophysiology and psychophysics.
Molecular genetics and pathogenesis.
Fundus albipunctatus
Clinical findings.
Electrophysiology and psychophysics.
Molecular genetics and pathogenesis.
Stationary cone disorders (cone dysfunction syndromes)
Disorders of color vision with normal visual acuity
Achromatopsia
Clinical and retinal imaging findings.
Electrophysiology and psychophysics.
Molecular genetics and pathogenesis.
S-cone monochromatism (blue cone monochromatism)
Clinical findings.
Electrophysiology and psychophysics.
Molecular genetics and pathogenesis.
Oligocone trichromacy
RGS9/R9AP retinopathy (“bradyopsia”)
Clinical findings.
Electrophysiology.
Molecular genetics and pathogenesis.
Bornholm eye disease
Clinical findings.
Molecular genetics and pathogenesis.
PROGRESSIVE RETINAL DYSTROPHIES
Rod–cone dystrophies
Leber congenital amaurosis
Clinical findings.
Electrophysiology.
Non-ocular features.
Molecular genetics and pathogenesis.
Management.
Retinitis pigmentosa
Clinical findings.
Electrophysiology and psychophysics.
Sector retinitis pigmentosa.
Autosomal dominant retinitis pigmentosa with incomplete ­penetrance.
X-linked retinitis pigmentosa.
Unilateral “retinitis pigmentosa.”
Differential diagnosis of retinitis pigmentosa.
Genetics of retinitis pigmentosa.
Molecular genetics
Autosomal dominant retinitis pigmentosa.
Autosomal recessive retinitis pigmentosa.
X-linked retinitis pigmentosa.
Management of retinitis pigmentosa.
Prognosis.
Pigmented paravenous chorioretinal atrophy (PPCRA)
Acquired rod–cone dysfunction
Vitamin A deficiency.
Desferrioxamine toxicity.
Isotretinoin toxicity.
Inherited chorioretinal dystrophies
Choroideremia
Clinical and histopathologic findings.
Electrophysiology.
Female heterozygotes.
Molecular genetics and pathogenesis.
Gyrate atrophy of the choroid and retina
Clinical and histopathologic findings.
Electrophysiology and psychophysics.
Non-ocular features.
Molecular genetics and pathogenesis.
Biochemical findings and treatment.
Cone and cone–rod dystrophies
Progressive cone dystrophy
Clinical findings.
Electrophysiology and psychophysics.
Cone dystrophy with supernormal rod ERG (KCNV2 retinopathy)
Clinical findings.
Electrophysiology.
Molecular genetics and pathogenesis.
Progressive cone–rod dystrophy
Clinical findings.
Electrophysiology and psychophysics.
Molecular genetics of cone and cone–rod dystrophies.
Goldmann–Favre syndrome and enhanced S-cone syndrome
Clinical findings and electrophysiology
Molecular genetics and pathogenesis
Management Of Inherited Retinal Disorders
Conclusions
References
References
46
Retinal dystrophies with systemic associations and the retinal ciliopathies
Introduction
Usher Syndrome: A Deaf Child Who Loses Vision
Usher syndrome type 1: the most severe form
Usher syndrome type 2: later-onset retinal degeneration in a deaf child
Usher syndrome type 3: the later-onset, variable form
Pathogenesis of Usher syndromes
The Ciliopathies: A Growing Systemic Retinal Dystrophies Group
Bardet–Biedl syndrome
Alström syndrome
MORM syndrome
Senior–Løken syndrome and Mainzer–Saldino syndrome
Joubert syndrome
Jeune syndrome
Pathogenesis of the ciliopathies
Further Rare Syndromes with Childhood Retinal Dystrophy
Spliceosomopathies
Cohen syndrome
Cockayne syndrome and DNA repair
Pediatric syndromes with retinal degeneration and features of the ectodermal spectrum (hair, skin, teeth)
Hypotrichosis with juvenile macular dystrophy
Ectodermal dysplasia, ectrodactyly, macular dystrophy syndrome
Uncombable hair with retinal pigmentary dystrophy, brachydactyly, and dental anomalies
Oliver–McFarlane syndrome, trichomegaly, and chorioretinopathy with pituitary dysfunction (Figs. 46.11 and 46.12)
Retinal dystrophy and dental abnormalities: Jalili syndrome
RP syndrome with prominent skeletal involvement
Spondylometaphyseal dysplasia short stature with cone dystrophy
Spondyloepiphyseal dysplasia with cone–rod dystrophy
Conclusion
References
References
47
Inherited macular dystrophies
Introduction
Autosomal Recessive Inheritance
Stargardt disease
Clinical and histological findings
Electrophysiology
Molecular genetics and pathogenesis
Future therapies
X-Linked Recessive Inheritance
Autosomal Dominant Inheritance
Autosomal dominant Stargardt-like macular dystrophy
Clinical and histological findings
Electrophysiology
Molecular genetics and pathogenesis
Autosomal dominant “bull's eye” macular dystrophy (MCDR2)
Clinical and histological findings
Electrophysiology
Molecular genetics and pathogenesis
Other disorders with bull’s eye maculopathy phenotype
Best disease (vitelliform macular dystrophy) and autosomal recessive bestrophinopathy (ARB)
Clinical and histological findings
Electrophysiology
Molecular genetics and pathogenesis
Future therapies
Pattern dystrophies
Clinical and histological findings
Electrophysiology
Molecular genetics and pathogenesis
North Carolina macular dystrophy
Clinical and histological findings
Electrophysiology
Molecular genetics
North Carolina-like macular dystrophy and progressive sensorineural hearing loss
Clinical and electrophysiological findings.
Molecular genetics.
North Carolina-like macular dystrophy and digital anomalies (Sorsby syndrome)
Clinical findings.
Molecular genetics.
Progressive bifocal chorioretinal atrophy
Clinical findings
Electrophysiology
Molecular genetics and pathogenesis
Other Developmental Macular Phenotypes
Foveal hypoplasia
Clinical findings
Molecular genetics
Maculopathy in posterior microphthalmos
Genetics
Benign yellow dot maculopathy (see Chapter 49)
Conclusions
References
48
Congenital pigmentary and vascular abnormalities of the retina
Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE)
Investigations
Prevalence
Associations
Chrpe Associated with Adenomatous Polyposis of the Colon (APC)
Genetics of APC
Congenital Grouped Pigmentation of the RPE
Prevalence
Associations
Congenital Simple Hamartoma of the Retinal Pigment Epithelium (CSHRPE)
Investigations
Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHRRPE)
Investigations
Histopathology
Associations
Management
Torpedo Maculopathy
Investigations
Prevalence
Associations
Choroidal Nevus
Monitoring nevi
Choroidal Melanocytosis
Retinal Astrocytic Hamartoma (RAH)
Investigations
Histopathology
Incidence and genetics
Management
Retinal Capillary Hemangioblastoma (RCH)
Investigations
Genetics
Management
Retinal Cavernous Hemangioma
Investigations
Histopathology
Genetics
Management
Coats Disease
Incidence
Histopathology
Genetics
Management
Treatment
Familial Retinal Arteriolar Tortuosity (FRAT)
Genetics
Inherited Retinal Venous Beading
Congenital Retinal Macrovessel
Investigations
Racemose Retinal Hemangioma
Familial Retinal Arterial Macroaneurysms (FRAM)
Genetics
Associations
References
References
49
Retinal flecks, dots, and crystals
Introduction
Clinical Evaluation
Yellow-White Retinal Lesions in Primary Ophthalmic Disease
Stargardt disease and fundus flavimaculatus (see also Chapter 47)
Benign fleck retina
Fundus albipunctatus
Retinitis punctata albescens, Bothnia, and Newfoundland retinal dystrophies
Enhanced S-cone syndrome and Goldmann–Favre syndrome
Miscellaneous reports of yellow-white retinal dots or flecks associated with inherited retinal disease
Bietti crystalline corneoretinal dystrophy
Yellow-White Retinal Lesions in Acquired Disease
Vitamin A deficiency
Inflammatory chorioretinopathies
Drug-induced crystalline retinopathies
Yellow-White Retinal Lesions in Systemic Disease
Abetalipoproteinemia
Pseudoxanthoma elasticum
Alport syndrome
Dense deposit disease
Primary hyperoxaluria
Sjögren–Larsson syndrome
Miscellaneous reports of retinal flecks associated with syndromic eye disease
References
References
50
Acquired and other retinal disorders (including juvenile X-linked retinoschisis)
Diabetic Retinopathy
Sickle Cell Retinopathy
Radiation Retinopathy
Bone Marrow or Stem Cell Transplantation Retinopathy
Retinal Vasculitis
Frosted Branch Angiitis
Angioid Streaks
Idiopathic Epiretinal Membrane
Lipemia Retinalis
Cystoid Macular Edema
Choroidal Neovascularization
Chronic Granulomatous Disease
Juvenile X-Linked Retinoschisis
Pediatric Self-Inflicted Laser Pointer Maculopathy
References
References
51
Retinal detachment in childhood
Introduction
Rhegmatogenous Retinal Detachment Associated With Trauma
Blunt ocular trauma
Retinal dialysis
Giant retinal tears
Penetrating ocular trauma
Non-traumatic retinal dialysis
Rhegmatogenous Retinal Detachment Associated With Developmental Abnormality
Ocular coloboma
Optic disc pits and macular detachment
Rhegmatogenous Retinal Detachment Associated With Inherited Vitreoretinopathies
Vitreoretinopathies with skeletal abnormalities
The Stickler syndromes
Molecular genetic diagnosis
Clinical features.
Ocular features.
Systemic features.
Kniest dysplasia (OMIM 156550)
Spondyloepiphyseal dysplasia congenita (OMIM 183900)
Knobloch syndrome (OMIM 267750)
Marfan syndrome (OMIM 154700)
Vitreoretinopathies associated with progressive retinal dysfunction
Wagner vitreoretinopathy (OMIM 143200)
Goldmann–Favre syndrome/enhanced S-cone dystrophy (OMIM 268100)
Vitreoretinopathies associated with abnormal retinal vasculature
Familial exudative vitreoretinopathy (OMIM 133780, 601813, 305390) (see also Chapter 41)
Autosomal dominant vitreochoroidopathy (OMIM 193220)
Vitreoretinopathy associated with corneal changes
Snowflake vitreoretinal degeneration (OMIM 193230)
X-linked retinoschisis (OMIM 312700) (see also Chapter 50)
Surgical Considerations In Pediatric Rhegmatogenous Retinal Detachment
Prophylaxis
Surgical approaches and considerations in pediatric rhegmatogenous retinal detachment repair
General considerations and principles of repair
Examination under anesthesia (EUA)
Scleral buckling, when, why, and how
Vitrectomy and internal approaches
Fellow eye considerations
Giant retinal tear approaches
References
PART SEVEN Neural Visual Systems
52
The pupil
Development (see Chapter 2)
The Near Synkinesis
Congenital and Structural Abnormalities
Afferent and Efferent Abnormalities of Pupil Reactivity
Afferent pupil defects
Amaurotic pupils
Relative afferent pupil defect
Testing for a RAPD.
Light–near dissociation
Efferent pupillomotor defects
Argyll Robertson pupils
Sylvian aqueduct syndrome (Parinaud dorsal midbrain syndrome)
Adie syndrome (tonic pupil syndrome)
Other causes of tonic pupils
Iris abnormalities
Benign episodic unilateral mydriasis (“springing pupil”)
Midbrain corectopia
Third nerve palsy (see Chapter 84)
Riley–Day syndrome
Iris sphincter or dilator muscle spasms
Paradoxical pupils
Horner Syndrome
Clinical characteristics
Miosis
Ptosis
Ipsilateral anhidrosis
Heterochromia
Pharmacological responses
Other characteristics
Congenital Horner syndrome (see Figs. 52.9–52.11)
Postnatally acquired Horner syndrome
Management
Congenital Horner syndrome
Acquired Horner syndrome
Pupil Changes from High Sympathetic “TONE”
Pupil Changes from Damage to the Parasympathetic System (see Chapter 85)
Pharmacological Agents
Pupil-dilating agents
Parasympatholytic agents
Sympathomimetics
Neurotoxins
Pupil-constricting agents
Cholinergic drugs
Sympatholytic agents
Systemic agents
Abnormalities of the Near Reflex
Congenital absence
Acquired defects
Sylvian aqueduct (Parinaud) syndrome
Systemic disease
Pharmacological agents
Eye disease
Other neurological causes
Accommodation in school children
Acknowledgment
References
53
Congenital anomalies of the optic discs
Introduction
Failure of Retinal Ganglion Cell Development or Survival
Optic nerve hypoplasia
Epidemiology
Ophthalmic characteristics
Systemic associations
Hypothalamic dysfunction.
Structural brain abnormalities.
Neurologic impairment and developmental delay.
Genetic and environmental risk factors
Subtypes
Workup
Treatment
Optic nerve aplasia
Excavated Optic Nerve Anomalies
Optic nerve coloboma
Morning glory disc anomaly
Congenital optic disc pit
Papillorenal syndrome
Peripapillary staphyloma
Other Congenital Optic Disc Anomalies
Megalopapilla
Congenital tilted disc syndrome
Congenital optic disc pigmentation
Myelinated (medullated) retinal nerve fibers
Aicardi syndrome
Optic disc dysplasia
Conclusions
References
References
54
Hereditary optic neuropathies
Monosymptomatic Hereditary Optic Neuropathies
Leber hereditary optic neuropathy
Dominant optic atrophy
Autosomal recessive optic atrophy
X-linked optic atrophy
Hereditary Optic Atrophy with Other Neurologic or Systemic Signs
Autosomal dominant optic atrophy and sensorineural hearing loss
Autosomal dominant optic atrophy, deafness, ophthalmoplegia, and myopathy
Autosomal dominant optic atrophy with premature cataracts
Autosomal recessive optic atrophy with progressive neurodegeneration and type III 3-methylglutaconic aciduria (Costeff synd ...
Autosomal recessive optic atrophy with juvenile diabetes mellitus, diabetes insipidus, and hearing loss (Wolfram syndrome)
Spastic paraplegia, optic atrophy, and neuropathy (SPOAN syndrome)
Congenital cerebellar ataxia, mental retardation, optic atrophy, and skin abnormalities (CAMOS)
Deafness, dystonia, and optic neuropathy (DDON, Mohr–Tranebjaerg syndrome)
Complicated hereditary infantile optic atrophy (Behr syndrome)
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)
Optic Neuropathy as a Manifestation Of Hereditary Degenerative or Developmental Diseases
Hereditary ataxias
Hereditary polyneuropathies
Hereditary spastic paraplegias
Hereditary muscular dystrophies
Storage diseases and cerebral degenerations of childhood
Mitochondrial disorders (see Chapter 67)
References
55
Other acquired optic disc abnormalities in children
INTRODUCTION
PSEUDOPAPILLEDEMA AND OPTIC DISC DRUSEN
Optic disc drusen
Clinical findings
Differentiating optic disc drusen from optic disc edema – diagnostic testing
Fundus examination
Autofluorescence
Ultrasound
Fluorescein angiography
Optical coherence tomography (OCT)
Prognosis and treatment
Systemic associations
TUMORS
Intrinsic optic disc tumors
ACQUIRED OPTIC ATROPHY IN CHILDHOOD
Nutritional optic neuropathies in children
Toxic optic neuropathies in children
Anti-tuberculous agents
Antibiotics
Immunomodulatory agents
Anti-neoplastic agents
Hypoxic/ischemic optic neuropathies in children
Traumatic optic neuropathy in children
References
56
Demyelinating, inflammatory, and infectious optic neuropathies
Pediatric Optic Neuritis
Optic neuritis associated with demyelinating disease
Para-infectious optic neuritis
Post-immunization optic neuritis
Chronic relapsing inflammatory optic neuropathy (CRION)
Infectious Optic Neuropathy
Neuroretinitis
Other infectious optic neuropathy
Infiltrative Optic Neuropathy
Leukemic infiltration
Sarcoid-related optic neuropathy
References
57
The optic chiasm
Introduction
Evolutionary Considerations
Anatomy
Embryology
Signs and Symptoms
Further Investigations
Developmental Defects
Albinism (see Chapter 40)
Achiasmia
Aplasia and anophthalmia
Trauma
Tumors
Chiasmal glioma
Craniopharyngioma
Pituitary adenomas
Dysgerminoma
Other chiasmal tumors
Granulomas and Chronic Inflammatory Disorders
Sphenoid Sinus Disease
Chiasmal Neuritis
Optochiasmatic Arachnoiditis
Third Ventricle Distension
Vascular Malformations
Radionecrosis
Empty Sella Syndrome
References
References
58
Headache in children
Introduction
Classification and Etiology
Migraine
Red flags of migraine without aura
Migraine with aura
Other non-visual auras
Migraine visual aura complications
Red flags of migraine with aura
Other visual conditions related to migraine
Childhood periodic syndromes
Management of pediatric migraine
Imaging
Bio-behavioral strategies and lifestyle modifications
Acute therapies
Preventive therapies
Etiology of migraine
Other Headache Disorders
Tension-type headache (TTH)
Trigeminal autonomic cephalalgia (TAC)
Medication-overuse headaches
Secondary Headaches
Ophthalmic and dental
Raised intracranial pressure and pseudotumor cerebri syndrome
Brain tumor
Infections
Structural abnormalities
Vascular abnormalities
Summary
References
59
Raised intracranial pressure
Introduction
Signs and Symptoms of Raised Intracranial Pressure
Ophthalmologic Monitoring
Evaluation of Raised Intracranial Pressure
Causes of Raised Intracranial Pressure
Brain tumors
Hydrocephalus
Structural abnormalities
Vascular
Infectious and inflammatory
Pseudotumor cerebri syndrome/idiopathic intracranial hypertension
References
60
The brain and cerebral visual impairment
Introduction
Developmental Defects
Embryological errors
Cephalocele (encephalocele)
1. Occipital cephaloceles.
2. Frontal ethmoidal cephaloceles.
3. Nasal pharyngeal cephaloceles.
Holoprosencephaly
Malformations of cortical development
Congenital hemianopia
Acquired hemianopia
Perinatal Insults
The premature infant
Periventricular leukomalacia (PVL)
Periventricular and intraventricular hemorrhage
The term infant
Neonatal encephalopathy
Older children
Investigating the Neurophysiological Basis of CVI
Background
Characterizing visual function and functional vision deficits in CVI
Insights from advanced neuroimaging studies
Visual Recovery and (RE)Habilitation
References
SECTION V Selected Topics in Pediatric Ophthalmology
61
Delivering bad news
Introduction
Importance of knowing how to deliver bad news
Impact on patients, families, and physicians
How to deliver bad news
Delivering bad news reflects general communication skills
Specific strategies for delivering bad news
Training in the delivery of bad news
Conclusion
Re-focusing on patient-centered care
References
References
62
Common issues arising in children with visual impairment
Introduction
Promotion of vision development
Early interventions
Development in the child with visual impairment
Conceptual development
Motor development
Language development
Social and emotional development
Education
Orientation and mobility
Assistive technology
Neurodevelopmental issues and the child with visual impairment
Blind mannerisms
Behavioral problems
Sleep
Adverse consequences of impaired sleep
Causes of sleep disturbances
Management of sleep difficulties
References
63
Visual conversion disorders and fabricated or exaggerated symptoms in children
Features and Definitions of Visual Conversion Disorder (Unconscious Disorders)
Conversion Disorder
Clinical Presentation and Symptoms
Depression
Child Abuse
Association with Organic Disease
Psychological Background
Detection of Functional Ocular Disorders in Children
Clinical Examination in Visual Conversion Disorders
The examiner
Total blindness
Bilateral
Unilateral
Partial acuity loss
Unilateral
Bilateral
Visual field defects
Diplopia
Confirmatory Studies
Management
Prognosis
References
64
Dyslexia
Introduction
Reading
Visual Functions Necessary To Read
Dyslexia – Reading Disability
Definition of dyslexia
Epidemiology of dyslexia
Genetics of dyslexia
Neurobiology of dyslexia
Dyslexia is a language-based learning disorder
A controversial vision theory of dyslexia – the magnocellular deficit theory
Dyslexia is not a vision-based learning disorder
Risk factors for dyslexia
Signs of possible dyslexia
Other conditions associated with dyslexia
The early detection of dyslexia – and its importance
Diagnosis of Dyslexia
Treatment of Dyslexia
Controversial Treatments
Colored/tinted lenses and overlays
Behavioral optometry
Vision therapy
“Training glasses”
Vision therapy and colored/tinted lenses and overlays do not help dyslexia
The Role of the Pediatric Ophthalmologist
Ophthalmic history and examination
Recommendations
References
References
65
Neurometabolic disease and the eye
Introduction
Lysosomal Storage Disorders
Mucopolysaccharidoses
Systemic manifestations in MPS
Ocular manifestations in MPS
Glycoprotein disorders
α-Mannosidosis (α-mannosidase deficiency)
Fucosidosis
Sialidosis (mucolipidosis type I)
Sialic acid storage diseases
Mucolipidoses
Sphingolipidoses
Fabry disease (α-galactosidase deficiency)
GM1 gangliosidosis
GM2 gangliosidosis
Metachromatic leukodystrophy (arylsulfatase deficiency)
Krabbe disease (galactocerebrosidase deficiency)
Niemann–Pick disease
Niemann–Pick disease types A and B (sphingomyelinase deficiency).
Niemann–Pick disease type C.
Farber disease
Gaucher disease (glucocerebrosidase deficiency)
Gaucher type 1 (non-neuronopathic).
Gaucher type 2 (infantile).
Gaucher type 3 (chronic neuronopathic).
Cystinosis
Neuronal ceroid lipofuscinosis (Batten disease)
Infantile neuronal ceroid lipofuscinosis (CLN1)
Late-infantile neuronal ceroid lipofuscinosis (CLN2)
Juvenile neuronal ceroid lipofuscinosis (CLN3)
Mitochondrial Disorders
Peroxisomal Disorders
Peroxisomal biogenesis disorders
Zellweger spectrum (Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease)
Rhizomelic chondrodysplasia punctata
Refsum disease
X-linked adrenoleukodystrophy
Primary hyperoxaluria type I
Congenital Defects of Glycosylation
Disorders of N-linked glycosylation
Inborn Errors of Carbohydrate Metabolism
Galactosemia and galactokinase deficiency
Inborn Errors of Amino Acid Metabolism
Homocystinuria
Propionic and methylmalonic acidemias
CblC (cobalamin C) disease
Maple syrup urine disease
Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency
Gyrate atrophy
Tyrosinemia type 2 (Richner–Hanhart syndrome)
Oculocutaneous albinism
Aromatic l-amino acid decarboxylase deficiency
Canavan disease
Disorders of Fatty Acid and Fatty Alcohol Metabolism
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Sjögren–Larsson syndrome
Disorders Of Sterol Metabolism
Smith–Lemli–Opitz syndrome
Mevalonic aciduria
X-linked dominant chondrodysplasia punctata 2 (CDPX2, Conradi–Hünermann syndrome)
Cerebrotendinous xanthomatosis
X-linked ichthyosis (steroid sulfatase deficiency)
Lipoprotein Disorders
Abetalipoproteinemia (Bassen–Kornzweig syndrome)
Lecithin-cholesterol acyltransferase (LCAT) deficiency and “fish eye” disease (partial LCAT deficiency)
Apo A-I deficiency
Copper Transport Disorders
Wilson disease
Menkes disease
References
66
Leukemia
Introduction
Lids
Conjunctiva
Cornea and sclera
Lens
Anterior chamber, iris, and intraocular pressure
Choroid
Retina and vitreous
Hyperviscosity changes
Retinal hemorrhages
Retinal infiltrates and white patches
Retinal infarction
Vitreous cells
Other retinal manifestations
Optic nerve
Other neuro-ophthalmic involvement
Complications of treatment
Drugs
Chimeric antigen receptor T-cell (CAR T-cell) therapy and other immunotherapies
Stem cell transplantation
Cases
References
67
Mitochondrial disorders
Genetics
Diagnosis and Investigation
Selected Syndromes
Chronic progressive external ophthalmoplegia (CPEO)
Kearns–Sayre syndrome (KSS)
Pearson syndrome
Polymerase gamma (POLG)-related disease
Mitochondrial neurogastrointestinal encephalopathy (MNGIE)
CPEO and OPA1
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
Leigh syndrome (LS) or subacute necrotizing encephalopathy
Neuropathy, ataxia, and retinitis pigmentosa (NARP)
Myoclonus epilepsy with ragged red fibres (MERRF)
Management
Future Therapies
References
68
Phakomatoses
Definition
Sturge–Weber Syndrome (See Also Chapter 20)
Pathogenesis
Neurological features and management issues
Ophthalmic features and management issues
Dermatologic features and management issues
Tuberous Sclerosis
Diagnostic criteria
Genetics and pathophysiology
Neurological features
Dermatological manifestations
Visceral features
Ocular features
Ocular management
Vigabatrin monitoring
Von Hippel–Lindau Disease
Genetics and pathophysiology
CNS and visceral features
Ophthalmic features
Other Conditions Sometimes Grouped with Phakomatoses
Klippel–Trénaunay–Weber syndrome (see also Chapter 20)
Wyburn-Mason syndrome
Ataxia telangiectasia
References
69
Neurofibromatosis type 1 and neurofibromatosis type 2
INTRODUCTION
NEUROFIBROMATOSIS TYPE 1 (NF1)
Diagnostic features
Manifestations of disease
Orbital periorbital plexiform neurofibromas
Incidence and presentation.
Symptoms and signs.
Ophthalmic exam.
Diagnostic testing.
Treatment.
Optic pathway glioma (see also Chapter 21)
Incidence and presentation.
Symptoms and signs.
Ophthalmic exam.
Diagnostic testing.
Treatment.
NEUROFIBROMATOSIS TYPE 2 (NF2)
Diagnostic features
Manifestation of disease
Meningioma
Incidence and presentation.
Treatment.
Schwannoma
Incidence and presentation.
Treatment.
Low-grade gliomas
Incidence and presentation.
Treatment.
References
70
Accidental trauma in children
EYE TRAUMA CLASSIFICATION
EYELID AND LACRIMAL TRAUMA
ORBITAL TRAUMA
CLOSED-GLOBE INJURY
Zone I
Zone II
Zone III
OPEN-GLOBE INJURY
Zone I
Zone II
Zone III
Acute approach to special circumstances
Subacute and long-term management
ASSOCIATIONAL TRAUMA
References
71
Child maltreatment, abusive head trauma and the eye
Introduction
Epidemiology
Risk And Protective Factors
Clinical Presentation
Ophthalmic Features of Physical Abuse
Non-vitreoretinal
Direct injury.
Indirect injury.
Vitreoretinal
Direct injury.
Indirect injury.
Non-Ocular Features of Physical Abuse
Neurological
Fractures
Bites
Burns and scalds
Bruises
Differential Diagnosis of Retinal Hemorrhages
Clinical entities or disease states
Conditions with overlapping features of abuse
Critically ill children and retinal hemorrhages
Retinal hemorrhages with pre-existing eye disease
Confounding conditions
Management
History
Examination
Clinical records
Investigations
Ophthalmology Outcome on Follow-up of Abusive Head Injury
Natural History of Retinal Hemorrhages
Fabricated Inflicted Injury (Munchausen Syndrome by Proxy) and Corporal Punishment
The Ophthalmologist and Legal Proceedings136
Expert witness
Evaluation of child maltreatment literature
Biomechanics of retinal hemorrhages in abusive head trauma
Prevention
Summary
References
72
Refractive surgery in children
Introduction
Types of Refractive Surgery Used in Children
Safety of ASA Versus LASIK
Phakic Intraocular Lenses
Refractive Lens Exchange and Clear Lens Extraction
Strategy for Pediatric Refractive Surgery
Improvements in Visual Acuity and Visual Function
Controversies in Pediatric Refractive Surgery
Summary
References
SECTION VI Amblyopia, Strabismus, and Eye Movements
PART ONE The Fundamentals of Strabismus and Amblyopia
73
Binocular vision
Introduction
Normal Development of Binocular Vision
Testing Binocular Vision in Infants and Children
Stereopsis and Esotropia
Stereopsis and intermittent exotropia
Binocular Vision and Amblyopia
Why Do We Care About Binocular Vision?
Conclusion
References
References
74
Amblyopia: the basics, the questions, and the practical management
Introduction
Methods Of Detection
Methods of Treatment
Refractive Correction
Occlusion Therapy
“Penalization” Therapy
Occlusion Compared to Penalization
Fogging
Active Therapy
Binocular visual experience as treatment
Systemic Therapy
Combined Therapies
Discontinuation of Treatment/Maintenance Therapy
Compliance
Reverse Amblyopia
Treatment of Older Children and Adults
References
References
75
Anatomy of strabismus
Introduction
Overview of the Extraocular Muscles
Details of the Extraocular Muscles
Orbital and Global Layer Compartmentalization of Extraocular Muscles
Gross structure of the extraocular muscles1,2
Structure of Pulleys
Functional Anatomy of Pulleys
Kinematics of Pulleys4
Transverse Compartmentalization of Extraocular Muscles
Anatomy of Compartmentalization
Compartmental Biomechanics
Functional Anatomy of Compartmentalization
Compartmentalization in normal convergence
Compartmentalization in normal divergence
Compartmentalization in horizontal strabismus
Vertical Fusional Vergence
Compartmental Brainstem Control
Compartmental Extraocular Muscle Pathology
Pathologic Anatomy of Pulleys
Congenital pulley heterotopy
Acquired pulley heterotopy
Pulley instability
Pulley hindrance
References
76
The orthoptic assessment
Introduction
Setting the Stage
Beginning the assessment
Initial observations
Identify the main issues
History
Symptoms
Determination of refractive status
Gain cooperation
An Approach to the ASSESSMENT
Assessment order
Sensory assessment
Identification of sensory adaptions
Identification of barriers to fusion
Vision assessment
Motor assessment (strabismus assessment)
Initial assessment of alignment (prior to sensory and vision assessment)
Full motor assessment
Non-Surgical Strabismus Management
Determining the true extent of strabismus
Effect of accommodation
Classification of exodeviations
Assessing risk of diplopia following strabismus surgery
Assessing barriers to fusion
Non-surgical elimination of diplopia or binocular symptoms
Confirmation of visual functioning in the setting of unexplained visual symptoms
Amblyopia Management
Summary
References
PART TWO Esotropias
77
Infantile esotropias
Epidemiology
Assessment and Differential Diagnosis
Dissociated Vertical Deviation (DVD) and Inferior Oblique Overaction (IOOA)
Dissociated horizontal deviation
Fusion Maldevelopment Nystagmus Syndrome (Latent Nystagmus)35,36
Optokinetic Asymmetry
Treatment and Outcomes
Surgical management
Use of botulinum toxin
Non-surgical treatments
Amblyopia
Refraction
Postoperative management
Controversies
The lessons of history
Why delay primary surgery?
Does spontaneous resolution occur?
Should we wait for preoperative alignment stability?
How accurate are our measurements?
What angle do we use to plan our surgical dosage?
Sensory Outcomes
Psychological Aspects
Conclusion
Acknowledgment
References
78
Accommodative esotropias
Characteristics
Classification
The Accommodative Convergence/Accommodation Ratio (AC/A)
Risk Factors for Accommodative Esotropia
Clinical Evaluation
Nonsurgical Treatment
Surgical Treatment
Long-Term Prognosis
References
79
Special esotropias (acute comitant, myopia-associated, and microtropia)
Acute Acquired Concomitant Esotropia (Aace)
Different types of AACE
Investigations
Management
Myopic Esotropia
Progressive myopic esotropia
Management
Esotropia with high myopia
Management of eso-hypotropia
Microtropia
Classification
Primary microtropia
Microtropia with identity.
Microtropia without identity.
Secondary microtropia
Diagnosis
Management
Decompensation of microtropia
References
80
Intermittent exotropia
Definition
Etiology
Epidemiology
Clinical Features
Psychosocial Effect
Clinical Evaluation
Assessing the control of intermittent exotropia
Measuring the deviation
Stereoacuity in intermittent exotropia
Differential Diagnosis
Non-Surgical Management
Correction of refractive error and overminus lenses
Orthoptics and occlusion treatment
Prism treatment
Surgical Management
Surgical indication
Optimal age for surgery
Goal of surgery and definition of successful surgical result
Surgical procedure
Deciding surgical amounts for intermittent exotropia
Complications
Undercorrection and recurrence
Postoperative overcorrection (consecutive esotropia)
Non-surgical management
Surgical management
Chemodenervation
References
References
PART THREE Exotropias
81
Special forms of comitant exotropia
Introduction
Infantile Exotropia
Management
Cyclic Exotropia
Management
Micro-Exotropia
Management
Sensory Exotropia
Management
Management of the deviation in a patient with sensory exotropia
Advice on manging an aphakic patient with a squint and the advisability of visual rehabilitation with an intraocular lens
Advice on an adult patient with a dense cataract and a divergent squint with regard to the risk of possible postoperative d ...
Management of diplopia occurring after cataract surgery
Consecutive Exotropia
Spontaneous consecutive exotropia
Post-surgery consecutive exotropia
Treatment
Surgical approach
References
References
PART FOUR Vertical, “Pattern” Strabismus, and Abnormal Head Posture
82
Vertical strabismus
Overview and Definitions
Physiology
Patient Evaluation
Motilty exam
General diagnostic pointers
General Treatment Principles
Specific Clinical Entities
Pseudohypertropia
Comitant deviations
Incomitant deviations: non-restrictive non-paretic
Primary oblique dysfunction
Paralytic strabismus (see Chapter 85)
Fourth cranial nerve palsy.
Inferior oblique palsy.
Vertical rectus palsy.
Dissociated vertical divergence
Special Forms Of Vertical Strabismus
Brown syndrome
Duane syndrome (see Chapter 83)
Restrictive strabismus
Oblique muscle incarceration
Altered rectus muscle path
References
83
“A,” “V,” and other pattern strabismus
Overview and Definitions
History
Occurrence
Etiology
Oblique muscle dysfunction
Torsion as a cause of A and V patterns
Orbital structural anomalies
Iatrogenic
Horizontal rectus muscles
Other less popular theories
Presentation
Examination
Motor exam
Sensory findings
Surgical Treatment of A And V Patterns
Oblique muscle surgery
Vertical transpositions of the horizontal rectus muscles
Horizontal transposition of vertical rectus muscles
Surgery to correct pulley abnormalities
Insertion slanting surgical procedures
Summary of surgical planning
Optical Management
References
PART FIVE “Neurological” Strabismus
84
Congenital cranial dysinnervation disorders
Introduction
Congenital Fibrosis of Extraocular Muscles
Management of CFEOM patients
Appropriate refractive correction/amblyopia therapy
Management of strabismus
Recessions/free tenotomies/weakening procedures.
Recession of conjunctiva and Tenon’s.
Role of superior oblique surgeries.
Role of resections.
Traction sutures.
Management of aberrant regeneration.
Management of ptosis
A myogenic vs. neurogenic phenomenon?
Inheritance
Duane retraction syndrome 1 (MIM #126800)
Duane retraction syndrome 2 (MIM #604356)
Duane radial ray syndrome (Okihiro syndrome, MIM #607323)
Wildervanck cervico-oculo-acoustic syndrome (MIM #314600)
Duane Retraction Syndrome
Management of Duane retraction syndrome
General guidelines for the management of strabismus in DRS
Unilateral esotropic DRS.
Bilateral esotropic DRS.
Exotropic DRS.
DRS with overshoots (upshoot or downshoot).
Orthotropic DRS.
Brown and congenital superior oblique palsy (SOP).
Human Homeobox A1 Spectrum (Mim #601536)
Practical management of the HOXA1 spectrum
Horizontal Gaze Palsy and Progressive Scoliosis (Mim #607313)
Practical management of HGPPS
Möbius Syndrome (Mim #157900)and its Variants
Practical management of Möbius syndrome
Summary
References
85
Ocular motor nerve palsies
Introduction
Examination Techniques
Epidemiology
Congenital Third Nerve Palsy
Acquired Third Nerve Palsy
Treatment
Congenital Fourth Nerve Palsy
Treatment
Acquired Fourth Nerve Palsy
Treatment
Congenital Sixth Nerve Palsy
Acquired Sixth Nerve Palsy
Treatment
Multiple Cranial Nerve Palsies
Role of Botulinum Toxin
Mimickers of Paralytic Strabismus
Acknowledgments
References
86
Myasthenia gravis in children
Introduction
Epidemiology
Pathophysiology
Transient neonatal myasthenia
Congenital myasthenic syndromes
Juvenile MG
Clinical Manifestations
Diagnosis
Electrophysiology
Serology
Pharmacological tests
Ice test
Gaze photographs
Clinical trial of pyridostigmine
Differential Diagnosis
Treatment
Acetylcholinesterase inhibitors
Immunomodulatory agents
Corticosteroids
Azathioprine
Other immunosuppressive agents
Plasmapheresis
Intravenous immunoglobulin
Thymectomy
Amblyopia treatment
Prognosis
References
PART SIX Strabismus Treatment
87
Strabismus: non-surgical treatment
Optical Correction
Occlusion Therapy
Prisms
Orthoptic Exercises/Vision Therapy
Drugs
Botulinum toxin
Injection technique
Indications
Bupivacaine
Injection technique
Indications
References
88
Strabismus surgery
Introduction
Surgically Important Anatomy
The conjunctiva
The sclera
Tenon’s fascia
The rectus muscle pulley system
Innervation of the extraocular muscles
Blood supply to extraocular muscles
Gross Anatomy of the Extraocular Muscles
Rectus muscles
Superior oblique muscle
Inferior oblique muscle
General Surgical Considerations
Anesthesia
Preoperative patient preparation
Surgical instruments and equipment
Conjunctival incisions for rectus muscle surgery
Fornix (cul-de-sac) approach
Limbal approach
Conjunctival incisions for oblique muscle surgery
Recession of the Rectus Muscles
General principles for recession of the rectus muscles
Measurement of recession
General recession technique
Placing suture near the muscle insertion
Detachment of the muscle from the globe
Securing the muscle to the sclera at its new location
Hang-back recession techniques
Securing the muscle to the sclera.
Measuring the recession.
Specific considerations for surgery on individual rectus muscles
Medial rectus muscle
Inferior rectus muscle
Lateral rectus muscle
Superior rectus muscle
Strengthening procedures of the rectus muscles
Resection
General resection principles
General resection technique
Preparation of the muscle for resection
Resection of the muscle
Re-attaching the muscle to the sclera
Rectus muscle plication
Surgery On The Inferior Oblique Muscle
Identification and isolation of the inferior oblique muscle
Inferior oblique muscle recession
Inferior oblique myectomy
Denervation and extirpation
Inferior oblique anterior transposition
Surgery on the superior oblique tendon
Forced traction testing of the superior oblique tendon
Superior oblique strengthening procedures
Superior oblique tucking procedure
Identifying the superior oblique tendon.
Isolation of the superior oblique tendon.
Tucking of the superior oblique tendon.
Fells modification of the Harada–Ito procedure
Superior oblique weakening procedures
Superior oblique tenotomy and tenectomy
Superior oblique tendon expander
Superior oblique posterior tenotomy/tenectomy
Transposition Procedures
Rectus muscle transposition procedures
Full tendon rectus muscle transposition
Full tendon transposition with posterior fixation suture augmentation.
Vessel-sparing full tendon or near full tendon transposition
Partial tendon transposition
Rectus muscle transposition without disinsertion
Nasal transposition of the lateral rectus muscle for third nerve palsy
Superior oblique tendon transposition
Adjustable Suture Techniques
Technique for bow-type adjustable sutures
Technique for cinch knot adjustable sutures
Special Procedures
Mechanical fixation of the globe
Plate and suture fixation procedure
Posterior fixation suture
References
89
Complications in strabismus surgery
Introduction
Definitions
Classification and Grading of Complications
Incidence
Severe Complications
Anterior segment ischemia
Globe perforation
Orbital/periorbital infection
Surgically induced necrotizing scleritis
Lost muscle
Slipped muscle and snapped muscles
Adherence syndrome
Minor Complications
Wrong-Muscle/Wrong-Direction Surgery
Consent In Strabismus Surgery
References
PART SEVEN Nystagmus and Eye Movements
90
Nystagmus in childhood
Introduction
Causes of Infantile Nystagmus
Quality of Life and Infantile Nystagmus
Classification of Infantile Nystagmus
Terminology Used in Nystagmus
Clinical Assessment
History
Clinical examination
Visual acuity
Abnormal head posture
Orthoptic examination
Color vision testing
Examination of light sensitivity and nyctalopia
Structural examination
Electrophysiology
Eye movement recordings
Optical coherence tomography
Magnetic resonance imaging of the brain
Genetic diagnosis
Clinical Characteristics of Infantile Nystagmus Types
Idiopathic infantile nystagmus
Chiasmal misrouting
Nystagmus associated with ocular disease
Nystagmus in neurological diseases or syndromes
Spasmus nutans
Manifest latent nystagmus
Treatment
Spectacles and contact lenses
Surgical treatment and treatment with prisms
Kestenbaum-type procedures
Artificial divergence
Nystagmus blockage syndrome
Adduction
Reduction of strabismus
Periodic alternating nystagmus
Tenotomy of four rectus muscles
Pharmacological treatment
Other treatments
Acknowledgment
References
91
Supranuclear eye movement disorders, acquired and neurologic nystagmus
Introduction
Anatomy and Physiology (Table 91.1)
Neural integrator
Saccadic system
Smooth pursuit system
Vestibulo-ocular response system
Vergence system
Optokinetic system
Clinical Assessment
General patient investigations
General examination
Vision testing
Refraction
Ocular motility evaluation
Ocular motility recordings
Specific system evaluation
Neural integrator
Saccades
Smooth pursuit and vestibulo-ocular response systems
Vergence system
Optokinetic system
Disorders of Supranuclear Eye Movements
Neural integrator
Neural integrator dysfunction
Disorders of saccades
Saccadic accuracy
Saccadic velocity
Saccadic latency
Saccade initiation failure/ocular motor apraxia
Opsoclonus/ocular flutter
Antisaccades
Saccadic intrusions and oscillations
Disorders of smooth pursuit
Smooth-pursuit asymmetry–initiation failure
Abnormal smooth-pursuit gain
Abnormal visual fixation
Disorders of vergence
Strabismus
Spasm of the near reflex (convergence spasm)
Divergence insufficiency/paralysis
Convergence insufficiency/paralysis
Disorders of the vestibulo-ocular response system
Abnormal VOR gain
Abnormal VOR time constant
Absent VOR quick phases
Absent VOR
Disorders of the optokinetic system
Absence of OKN
Binocular asymmetry of OKN
Monocular asymmetry of OKN
Miscellaneous disorders
Induced convergence retraction (dorsal midbrain syndrome)
Transient vertical gaze disturbances in infancy
Internuclear ophthalmoplegia
Acquired and Neurologic Nystagmus
Historical perspective
Incidence
Etiology
Types of acquired and neurologic nystagmus
Spasmus nutans
Drugs/toxins
Intracranial disease
Voluntary flutter
“Localizing” forms of nystagmus due to neurologic disease (Box 91.1)
(A)periodic alternating nystagmus.
Gaze-evoked nystagmus.
Vestibular nystagmus.
Acquired pendular nystagmus.
See-saw nystagmus.
Downbeat nystagmus.
Upbeat nystagmus.
Treatment and prognosis
References
SECTION VII Common Practical Problems in a Pediatric Ophthalmology and Strabismus Practice
92
“I think my baby can’t see!”
History
Examination
References
93
“My baby’s got a red eye, Doctor!”
Introduction
Is conjunctival congestionsuperficial or deep?
Superficial conjunctivalcongestion with discharge?
Itchy red eye?
Painful conjunctival congestion?
Deep congestion with photophobia and tearing?
Painless conjunctival congestion?
Painless red eye with no conjunctival congestion?
COVID-19?
Uveitis in infants?
Does a normal red eye exist in infancy?
References
94
“My child keeps blinking and closing his eye”
Introduction
What is the role of the ophthalmologist?
Do these children need further investigation for seriousneurological disease?
If this is a tic – what do we do?
Pediatric acute-onset neuropsychiatric syndrome (PANS)
Management of eyelid blinking tics
References
References
95
“My child seems to hate the bright light”
Introduction
Differential Diagnosis
History
Examination
Ancillary Testing
Causes of Photophobia
Anterior segment causes of photophobia
Posterior segment causes of photophobia
Whole-eye causes of photophobia
Strabismus
Neurologic causes of photophobia
Management
References
96
“My child’s eyes keep watering”
Signs and Symptoms
History
Examination
External inspection
Slit-lamp examination
Fluorescein testing
Intraocular pressure
Cycloplegic refraction, fundus examination
Causes And Treatment
Congenital nasolacrimal duct obstruction (see Chapter 18)
Foreign body/corneal abrasion
Keratitis and conjunctivitis (see Chapter 15)
Contact lens-related epiphora
Congenital glaucoma
Crocodile tears
References
97
Proptosis at different ages
98
“My child’s teacher says she can’t see properly”
Mode of Presentation
Diagnosis
History
Examination
Ocular examination
Neurological examination
Special investigations
Causes and Treatment
Refractive errors
Accommodative anomalies
Orbital disease (see Chapter 19)
Media opacities
Corneal diseases (see Chapter 32)
Anterior chamber anomalies
Lens anomalies (see Chapter 34)
Vitreous disorders
Retinal disorders
Retinal dystrophies (see Chapter 45)
Systemic disease
Optic nerve diseases
Central nervous system diseases
Non-organic visual disorders
99
The child with a dual sensory loss (deafblind)
Introduction
Etiology
Concomitant Disorders
Ophthalmological Sequelae
Ophthalmological Assessment
Early detection of visual symptoms
Cochlear Implantation
Approach To The Deafblind Child
References
100
“My little girl tells me she sees strange things”
Introduction
Entoptic Phenomena
Photopsia and phosphenes
Floaters (myodesopsia, mouches volantes)
Benign Blurred (“Fuzzy”) Vision
Transient Loss Of Vision
Movement Illusions (Oscillopsia and Pulfrich Phenomenon)
Color (Dyschromatopsia)
Seeing Multiples (Monocular Diplopia, Triplopia, and Polyopia)
Size (Micropsia, Macropsia, Teleopsia, Lilliputianism)
Distortion (Dysmetropsia, Metamorphopsia, and “Alice in Wonderland” Syndrome)
Bradyopsia
Visual Perseveration and Other Rare Cerebral Visual Disturbances
Visual Disturbances Associated with Migraine
Hallucinations
Hallucinations in darkness and with social deprivation
Charles Bonnet syndrome (visual release phenomenon)
Hypnagogic and hypnopompic hallucinations
Occipital and temporal lobe epilepsy
Peduncular hallucinosis
Drug-induced hallucinations
Psychogenic (“Functional”) Visual Loss
Medical Conditions
Psychiatric Disease
References
101
Wobbly eyes in infancy
Introduction
Classification
Saccadic oscillations and intrusions
History
Clinical history
Family history
Symptoms
Ophthalmological Examination
Additional tests and investigations
Nystagmus with localizing value
Common Types of Nystagmus in Infancy
Infantile nystagmus syndrome (INS)
Sensory nystagmus
Fusion maldevelopment nystagmus syndrome (FMNS)
Spasmus nutans syndrome (SNS)
Saccadic intrusions
Downbeat nystagmus
Upbeat nystagmus
See-saw nystagmus
Convergence–retraction nystagmus
Periodic alternating nystagmus (PAN)
Summary
References
102
Abnormal head postures in children
Introduction
Non-Ocular Causes of Head Postures (see Fig. 102.1 Box 102.1)1
Congenital disorders
Acquired disorders
Ocular Causes of Head Postures
Diagnostic considerations
Causes of ocular torticollis (Fig. 102.2
Head turn
Chin-up
Chin-down
Head tilt
References
103
Hand defects and the eye
Introduction
Embryology
Etiology
References
104
Optimizing compliance in patching therapy
Introduction
Barriers Related to the Patient and Family Understanding of Amblyopia and its Therap
y
Insufficient patient and family education
Cultural beliefs
Language barriers
Multiple caregivers
Tips
Barriers Associated with Inconsistent Instructions and Follow-u
p
Frequent changes to the treatment plan
Inconsistent follow-up schedules
Tips
Barriers Associated with Patient and Family Motivatio
n
Long interval time between visits
Lack of improvement at subsequent visits
The patient does not cooperate with the patching treatment
Tips
Barriers Associated with Reduced Level of Vision While Patchin
g
The child and parents are nervous due to difficulty seeing with the patch on
Parent and teacher concerns regarding impact on school
Tips
Barriers Associated with Financial, Health, and Psychosocial Consideration
s
Intolerance of adhesive patch or sensitivity to adhesive
Expenses associated with amblyopia treatment
Concerns about potential social stigma and teasing associated with wearing the patch
The child with additional health concerns and treatments
Tips
Alternatives to Conventional Occlusion
Partial occlusion or fogging a lens
Optical penalization
Atropine as pharmacologic penalization
Challenges and options for atropine treatment
Other amblyopia treatment options
What if it is Not Amblyopia?
References
105
Vision screening
What is screening?
When is ophthalmic screening appropriate in the pediatric population?
Amblyopia
Screening for amblyopia
Instrument-Based Vision Screening (IVS)
Photoscreening
Autorefractors
Retinal biorefringent screener
Traditional Acuity Screening
Support for Vision Screening
References
Index
Confidence is ClinicalKey