- •Pediatric Retina
- •Preface
- •1: Development of the Retina
- •1.1 To suppose that the eye . . . could have been formed by natural selection, seems, I freely confess, absurd . . .1
- •1.2 Good order is the foundation of all things2
- •1.3 All that you touch you Change. All that Change Changes you3
- •1.4 Men are born with two eyes, but only one tongue, in order that they should see twice as much as they say4
- •1.7 More than Meets the Optic Vesicle6
- •1.9 Focusing on the Fovea: A Marvel of Development
- •1.10 Nature and Books belong to the eyes that see them7
- •References
- •2: Anatomy and Physiology of the Retina
- •2.1 Introduction
- •2.2 Anatomy of the Retina
- •2.2.2 Cellular Organization of the Retina
- •2.2.2.1 Retinal Pigment Epithelium
- •2.2.2.2 Photoreceptors
- •2.2.2.3 Interneuron Cells
- •2.2.2.4 Ganglion Cells
- •2.2.2.5 Glial Cells
- •2.2.3.1 Bruch’s Membrane
- •2.2.3.2 Retinal Pigment Epithelium
- •2.2.3.3 Photoreceptor Layer
- •2.2.3.4 External Limiting Membrane
- •2.2.3.5 Outer Nuclear Layer
- •2.2.3.6 Outer Plexiform Layer
- •2.2.3.7 Inner Nuclear Layer
- •2.2.3.8 Inner Plexiform Layer
- •2.2.3.9 Ganglion Cell Layer
- •2.2.3.10 Nerve Fiber Layer
- •2.2.5 Blood Supply of the Retina
- •2.2.5.1 Choroidal Circulation
- •2.2.5.2 Hyaloid Circulation
- •2.2.5.3 Retinal Circulation
- •2.2.5.5 Regulation of Blood Flow to the Retina
- •2.2.6 Optic Nerve
- •2.2.6.1 Physiology and Development
- •2.3 Physiology of the Retina
- •2.3.1 The Retinal Pigment Epithelium
- •2.3.3 Image-Forming Visual System
- •2.3.3.1 Detection of Photons by Visual Pigment in the Photoreceptor Cell
- •2.3.3.2 Light Activation of the Photopigment
- •2.3.4 Nonimage-Forming Visual System
- •2.3.5 Targets of Retinal Projections
- •2.4 Retinal Development
- •2.4.2 Foveal Development
- •References
- •3.1 Full-Field ERG
- •3.1.1.1 Rod Response
- •3.1.1.2 Standard Combined Response
- •3.1.1.3 Oscillatory Potentials
- •3.1.1.4 Single-Flash Cone Response
- •3.1.1.5 Light-Adapted Flicker Response
- •3.1.2 Repeat Variability
- •3.1.4 Clinical Uses of the Full-Field ERG
- •3.1.4.2 Stationary Night Blindness
- •3.1.4.3 Enhanced S-Cone Syndrome
- •3.1.4.4 Leber Congenital Amaurosis
- •3.2 Focal and Multifocal ERG
- •References
- •4: Retinopathy of Prematurity (ROP)
- •4.1 Introduction
- •4.2 History
- •4.3 Classification
- •4.4 Incidence
- •4.5 Natural History and Prognosis
- •Disease with Little or No Risk
- •Disease with Moderate Risk
- •Disease with High Risk
- •4.6 Pathogenesis
- •4.7 Screening
- •4.8 Management
- •4.9 Prevention
- •4.10 Interdiction
- •4.11 Corrective Therapy
- •4.12 Mitigation
- •4.13 Medicolegal Considerations
- •4.14 Conclusion
- •References
- •5: Optic Nerve Malformations
- •5.1 Optic Nerve Hypoplasia
- •5.1.1 Overview/Clinical Significance
- •5.1.2 Classification
- •5.1.3 Genetics
- •5.1.4 Pathophysiology
- •5.1.5 Natural History
- •5.1.6 Diagnosis
- •5.1.7 Treatment
- •5.2 Morning Glory Disc Anomaly
- •5.2.1 Overview/Clinical Significance
- •5.2.2 Classification
- •5.2.3 Genetics
- •5.2.4 Pathophysiology
- •5.2.5 Natural History
- •5.2.6 Diagnosis
- •5.2.7 Treatment
- •5.2.8 Associations and Complications
- •5.3 Optic Nerve Head Pits
- •5.3.1 Introduction
- •5.3.2 Overview with Clinical Significance
- •5.3.3 Classification
- •5.3.4 Genetics
- •5.3.5 Pathophysiology
- •5.3.6 Incidence
- •5.3.8 Diagnosis and Diagnostic Aids
- •5.3.9 Treatment
- •5.3.10 Complications and Associations
- •5.4 Optic Disc Coloboma
- •5.4.1 Introduction
- •5.4.2 Genetics
- •5.4.3 Pathophysiology
- •5.4.4 Natural History and Prognosis
- •5.4.5 Diagnosis and Diagnostic Aids
- •5.4.6 Treatment
- •5.5 Optic Nerve Tumor
- •5.5.1 Glioma
- •5.5.1.1 Introduction
- •5.5.2 Overview with Clinical Significance
- •5.5.2.1 Optic Nerve Glioma
- •5.5.2.2 Optic Chiasmal Glioma
- •5.5.3 Pathophysiology
- •5.5.4 Incidence
- •5.5.6 Diagnosis
- •5.5.7 Treatment
- •5.5.8 Social and Family Impact
- •5.6.1 Introduction
- •5.6.3 Pathophysiology
- •5.6.4 Incidence
- •5.6.5 Diagnosis and Diagnostic Aids
- •5.6.6 Treatment
- •5.7 Melanocytoma
- •5.7.1 Introduction
- •5.7.2 Pathophysiology
- •5.7.3 Natural History and Prognosis
- •5.7.4 Diagnosis and Diagnostic Aids
- •5.7.5 Treatment
- •5.8 Metastatic Tumors: Leukemia
- •5.8.1 Introduction
- •5.8.2 Pathophysiology
- •5.8.3 Natural History and Prognosis
- •5.8.4 Treatment
- •5.8.4.1 Other Elevated Disc Anomalies
- •5.9 Drusen
- •5.9.1 Introduction
- •5.9.2 Pathophysiology
- •5.9.3 Natural History and Prognosis
- •5.9.4 Diagnosis and Diagnostic Aids
- •5.10 Hyperopia
- •5.11 Persistence of the Hyaloid System
- •5.12 Tilted Disc
- •5.12.1 Introduction
- •5.12.2 Historical Context
- •5.12.3 Overview with Clinical Significance
- •5.12.4 Genetics
- •5.12.5 Pathophysiology
- •5.12.6 Incidence
- •5.13 Myelinated Nerve Fibers
- •5.13.1 Introduction
- •5.13.2 Genetics
- •5.13.3 Pathophysiology
- •5.13.4 Incidence
- •References
- •6.1.1 Albinism
- •6.1.1.1 Disorders Specific to Melanosomes
- •Hermansky–Pudlak Syndrome
- •Chediak–Higashi Syndrome
- •Diagnosis and Treatment
- •6.1.2 Gyrate Atrophy
- •6.1.3 Cystinosis
- •6.1.3.1 Primary Hyperoxaluria
- •6.2.1 The Gangliosidoses
- •6.2.2 GM1 Gangliosidosis
- •6.2.3 GM2 Gangliosidosis
- •6.2.3.1 Tay–Sachs Disease
- •6.2.4 Sandhoff Disease
- •6.2.5 Niemann–Pick Disease
- •6.2.7 Type C Niemann–Pick Disease
- •6.2.8 Fabry Disease
- •6.2.9 Farber Lipogranulomatosis
- •6.2.10 The Mucopolysaccharidoses
- •6.2.10.1.1 MPS I H: Hurler Syndrome
- •6.2.10.1.2 MPS I S: Scheie Syndrome
- •6.2.10.1.3 MPS I H/S: Hurler–Scheie Syndrome
- •6.2.10.2 MPS II: Hunter Syndrome
- •6.2.10.3 MPS III: Sanfilippo Syndrome
- •6.2.10.4 MPS IV: Morquio Syndrome
- •6.2.10.5 MPS VI: Maroteaux–Lamy Syndrome
- •6.2.10.6 MPS VII: Sly Syndrome
- •6.3 Disorders of Glycoprotein
- •6.3.1 Sialidosis
- •6.4 Disorders of Peroxisomes
- •6.4.1 Refsum Disease
- •References
- •7: Phacomatoses
- •7.1 Introduction
- •7.2 Neurofibromatosis
- •7.2.1 Neurofibromatosis Type 1
- •7.2.1.1 Introduction
- •7.2.1.2 Historical Context
- •7.2.1.3 Overview with Clinical Significance
- •7.2.1.4 Genetics
- •7.2.1.5 Natural History and Prognosis
- •7.2.1.6 Signs and Symptoms
- •7.2.2 Ocular Manifestations
- •7.2.2.1 Lisch Nodules
- •7.2.2.2 Optic Pathway Glioma
- •7.2.2.3 Neurofibroma of the Eyelid and Orbit
- •7.2.3 Systemic Manifestations
- •7.2.3.1 Café-au-lait Spot
- •7.2.3.2 Neurofibroma
- •7.2.3.3 CNS Abnormality
- •Diagnosis and Diagnostic Aids
- •Treatment
- •Social and Family Impact
- •7.2.4 Neurofibromatosis Type 2 (NF2)
- •7.2.4.1 Introduction
- •7.2.4.2 Historical Context
- •7.2.4.3 Overview with Clinical Significance
- •7.2.4.4 Classification
- •7.2.4.5 Genetics
- •7.2.4.6 Incidence
- •7.2.4.7 Natural History and Prognosis
- •7.2.4.8 Signs and Symptoms
- •Ocular Findings
- •Systemic Findings
- •Vestibular Schwannoma
- •Diagnosis and Diagnostic Aids
- •Treatment
- •Complications and Associations
- •Social and Family Impact
- •7.3 Von Hippel–Lindau Disease
- •7.3.1 Introduction
- •7.3.2 Historical Context
- •7.3.3 Overview with Clinical Significance
- •7.3.4 Classification
- •7.3.5 Genetics
- •7.3.6 Pathophysiology
- •7.3.7 Incidence
- •7.3.8 Natural History and Prognosis
- •7.3.9 Signs and Symptoms
- •7.3.9.1 Ocular Manifestations
- •Retinal Capillary Hemangioma
- •7.3.9.2 Systemic Manifestations
- •CNS Hemangioma
- •Renal Cell Carcinoma
- •Pheochromocytoma
- •Pancreatic Cystadenoma and Islet Cell Tumors
- •Epididymis Cystadenoma
- •7.3.10 Diagnosis and Diagnostic Aids
- •7.3.10.1 Coats’ Disease
- •7.3.10.2 Racemose Hemangioma
- •7.3.10.3 Retinal Cavernous Hemangioma
- •7.3.10.4 Retinal Macroaneurysm
- •7.3.10.5 Vasoproliferative Tumor
- •7.3.11 Fluorescein Angiography
- •7.3.12 Indocyanine Green Angiography
- •7.3.13 Ultrasonography
- •7.3.14 Magnetic Resonance Imaging
- •7.3.16 Treatment
- •7.3.17 Observation
- •7.3.18 Laser Photocoagulation
- •7.3.19 Cryotherapy
- •7.3.21 Plaque Radiotherapy
- •7.3.22 Proton Beam Radiotherapy
- •7.3.24 Enucleation
- •7.3.25 Social and Family Impact
- •7.4 Tuberous Sclerosis Complex
- •7.4.1 Introduction
- •7.4.2 Historical Context
- •7.4.3 Overview with Clinical Significance
- •7.4.4 Classification
- •7.4.5 Genetics
- •7.4.6 Incidence
- •7.4.7 Natural History and Prognosis
- •7.4.8 Signs and Symptoms
- •7.4.8.1 Ocular Findings
- •Retinal Astrocytic Hamartoma
- •7.4.8.2 Systemic Findings
- •Dermatologic Manifestations
- •Neurologic Manifestations
- •Visceral Manifestations
- •Diagnosis and Diagnostic Aids
- •Treatment
- •Social and Family Impact
- •7.5 Sturge-Weber Syndrome
- •7.5.1 Introduction
- •7.5.2 Historical Context
- •7.5.3 Overview with Clinical Significance
- •7.5.4 Incidence
- •7.5.5 Genetics
- •7.5.6 Pathophysiology
- •7.5.7 Natural History and Prognosis
- •7.5.8 Signs and Symptoms
- •7.5.8.1 Diffuse Choroidal Hemangioma
- •7.5.8.2 Glaucoma
- •7.5.8.3 Nevus Flammeus
- •7.5.8.4 Leptomeningeal Hemangiomatosis
- •7.5.8.5 Diagnosis and Diagnostic Aids
- •7.5.8.6 Treatment
- •7.5.8.7 Social and Family Impact
- •7.6 Wyburn-Mason Syndrome
- •7.6.1 Introduction
- •7.6.2 Historical Context
- •7.6.3 Overview with Clinical Significance
- •7.6.4 Classification
- •7.6.5 Genetics
- •7.6.6 Pathophysiology
- •7.6.7 Natural History and Prognosis
- •7.6.8 Signs and Symptoms
- •7.6.8.1 Ocular Findings
- •Retinal Arteriovenous Malformation
- •Diagnosis and Diagnostic Aids
- •Treatment
- •7.6.9 Ataxia Telangiectasia
- •7.6.9.1 Introduction
- •7.6.9.2 Historical Context
- •7.6.9.3 Overview with Clinical Significance
- •7.6.9.4 Classification
- •7.6.9.5 Genetics
- •7.6.9.6 Incidence
- •7.6.9.7 Natural History and Prognosis
- •7.6.9.8 Signs and Symptoms
- •7.6.9.9 Diagnosis and Diagnostic Aids
- •7.6.9.10 Treatment
- •7.6.9.11 Social and Family Impact
- •7.7 Retinal Caverous Hemangioma
- •7.7.1 Introduction
- •7.7.2 Historical Context
- •7.7.3 Overview with Clinical Significance
- •7.7.4 Genetics
- •7.7.5 Incidence
- •7.7.6 Natural History and Prognosis
- •7.7.7 Signs and Symptoms
- •7.7.7.1 Ocular Findings
- •7.7.7.2 Systemic Findings
- •Cutaneous Lesions
- •Diagnosis and Diagnostic Aids
- •Treatment
- •References
- •8.1 Introduction
- •8.2 Embryology
- •8.3 Clinical Findings
- •8.3.1 Primary anomalies
- •8.3.2 Secondary findings
- •8.3.3 Differential Diagnosis
- •8.3.3.1 Ancillary Tests
- •8.3.3.2 Prognosis
- •8.3.3.3 Treatment
- •8.4 Practical Surgical Issues
- •8.4.1 The Posterior Surgery
- •References
- •9.1 Introduction
- •9.2 Retinoblastoma Presentation SOP
- •9.2.1 Objective
- •9.2.2 Applicability
- •9.2.3 Scope
- •9.2.4 Clinical Significance
- •9.2.5 Procedures
- •9.2.6 Consequences
- •9.2.7 Related SOPs
- •9.3.1 Objectives
- •9.3.2 Applicability
- •9.3.3 Scope
- •9.3.4 Clinical Significance
- •9.3.5 Procedures
- •9.3.6 Consequences
- •9.3.7 Related SOPs
- •9.4 Genetics of Retinoblastoma SOP
- •9.4.1 Objective
- •9.4.2 Applicability
- •9.4.3 Scope
- •9.4.4 Clinical Significance
- •9.4.5 Procedure
- •9.4.6 Consequences
- •9.4.7 Related SOPs
- •9.5 Screening of Relatives SOP
- •9.5.1 Objective
- •9.5.2 Applicability
- •9.5.3 Scope
- •9.5.4 Clinical Significance
- •9.5.5 Procedure
- •9.5.6 Consequences
- •9.5.7 Related SOPs
- •9.6 Treatment SOP
- •9.7 Enucleation Indications SOP
- •9.7.1 Objective
- •9.7.2 Applicability
- •9.7.3 Scope
- •9.7.4 Clinical Significance
- •9.7.5 Procedure
- •9.7.6 Consequences
- •9.7.7 Related SOPs
- •9.8 Enucleation Technique SOP
- •9.8.1 Objectives
- •9.8.2 Applicability
- •9.8.3 Scope
- •9.8.4 Clinical Significance
- •9.8.5 Procedure
- •9.8.6 Consequences
- •9.8.7 Related SOPs
- •9.9.1 Objectives
- •9.9.2 Applicability
- •9.9.3 Scope
- •9.9.4 Clinical Significance
- •9.9.5 Procedure
- •9.9.6 Consequences
- •9.9.7 Related SOPs
- •9.10 Histopathology Analysis SOP
- •9.10.1 Objectives
- •9.10.2 Applicability
- •9.10.3 Scope
- •9.10.4 Clinical Significance
- •9.10.5 Procedure
- •9.10.6 Consequences
- •9.10.7 Related SOPs
- •9.11 Cryotherapy SOP
- •9.11.1 Objectives
- •9.11.2 Applicability
- •9.11.3 Scope
- •9.11.4 Clinical Significance
- •9.11.5 Procedure
- •9.11.6 Consequences
- •9.11.7 Related SOPs
- •9.12 Laser Therapy SOP
- •9.12.1 Objective
- •9.12.2 Applicability
- •9.12.3 Scope
- •9.12.4 Clinical Significance
- •9.12.5 Procedure
- •9.12.6 Consequences
- •9.12.7 Related SOPs
- •9.13 Local Chemotherapy SOP
- •9.13.1 Objectives
- •9.13.2 Applicability
- •9.13.3 Scope
- •9.13.4 Clinical Significance
- •9.13.5 Procedure
- •9.13.6 Consequences
- •9.13.7 Related SOPs
- •9.14 Systemic Chemotherapy SOP
- •9.14.1 Objectives
- •9.14.2 Applicability
- •9.14.3 Scope
- •9.14.4 Clinical Significance
- •9.14.5 Procedure
- •9.14.6 Consequences
- •9.14.7 Related SOPs
- •9.15 Radiation SOP
- •9.15.1 Objective
- •9.15.2 Applicability
- •9.15.3 Scope
- •9.15.4 Clinical Significance
- •9.15.5 Procedure
- •9.15.6 Consequences
- •9.15.7 Related SOPs
- •9.16.1 Objective
- •9.16.2 Applicability
- •9.16.3 Scope
- •9.16.4 Clinical Significance
- •9.16.5 Procedure
- •9.16.6 Consequences
- •9.16.7 Related SOPs
- •9.17 Follow-Up SOP
- •9.17.1 Objective
- •9.17.2 Applicability
- •9.17.3 Scope
- •9.17.4 Clinical Significance
- •9.17.5 Procedure
- •9.17.6 Consequences
- •9.17.7 Related SOPs
- •References
- •10: Coats’ Disease
- •10.1 Overview
- •10.3 Clinical Aspects
- •10.3.1 Demographics
- •10.3.2 Ocular Findings
- •10.4 Pathology and Pathophysiology
- •10.5 Genetics
- •10.6 Natural History
- •10.8 Management
- •10.9 Systemic Associations
- •10.10 Social and Family Impact
- •10.11 Future Treatment
- •References
- •11.1.1 Stargardt Macular Dystrophy
- •11.1.1.1 Clinical Features: STGD
- •11.1.1.2 Diagnostic Features: STGD
- •11.1.1.3 Differential Diagnosis: STGD
- •11.1.1.4 Inherited Forms: STGD
- •11.1.2 Best Macular Dystrophy
- •11.1.2.1 Clinical Features: BMD
- •11.1.2.2 Diagnostic Features: BMD
- •11.1.2.3 Differential Diagnosis: BMD
- •11.1.2.4 Inherited Forms: BMD
- •11.1.3 Juvenile X-Linked Retinoschisis
- •11.1.3.1 Clinical Features: JXRS
- •11.1.3.2 Diagnostic Features: JXRS
- •11.1.3.3 Differential Diagnosis: JXRS
- •11.1.3.4 Inherited Forms: JXRS
- •11.2.2 Molecular Genetic Testing
- •11.2.3.1 ABCR
- •11.2.3.2 ELOVL4
- •11.2.3.3 PROM1
- •11.2.3.4 BEST-1
- •11.3.1 STGD
- •11.3.3 JXRS
- •11.4.1 STGD Models
- •11.4.2 BMD Models
- •11.4.3 JXRS Models
- •11.5 Phenotypic Diversity
- •11.6 Potential Therapeutics for Juvenile Macular Degenerations
- •References
- •12: Generalized Inherited Retinal Dystrophies
- •12.1 Introduction
- •12.2 Historical Context
- •12.4.1 Retinitis Pigmentosa
- •12.4.1.1 Overview with Clinical Significance
- •12.4.1.2 Genetics
- •12.4.1.3 Pathophysiology
- •12.4.1.4 Prevalence
- •12.4.1.5 Patient History and Evaluation
- •12.4.1.6 Diagnostic Testing
- •12.4.1.7 Treatment
- •12.4.2 Congenital Leber Amaurosis
- •12.4.2.1 Genetics
- •12.4.2.2 Pathophysiology
- •12.4.2.3 Incidence/Prevalence
- •12.4.2.4 Natural History and Prognosis
- •12.4.2.5 Diagnostic Testing
- •12.4.2.6 Treatment
- •12.4.3.1 Genetics
- •12.4.3.2 Pathophysiology
- •12.4.3.3 Incidence
- •12.4.3.4 Natural History and Prognosis
- •12.4.3.5 Diagnostic Testing
- •12.4.3.6 Treatment
- •12.4.3.7 Achromatopsia
- •12.4.4.1 Genetics
- •12.4.4.2 Pathophysiology
- •12.4.4.3 Incidence
- •12.4.4.4 Evaluation and Prognosis
- •12.4.4.5 Diagnostic Testing
- •12.4.4.6 Treatment
- •12.4.4.7 Complications and Disease Associations
- •12.4.4.8 Social Considerations
- •References
- •13: Vitreoretinal Dystrophies
- •13.1 Stickler Syndrome
- •13.1.1 Introduction
- •13.1.2 Historical Context
- •13.1.3 Overview with Clinical Significance
- •13.1.4 Classification
- •13.1.5 Genetics
- •13.1.6 Pathophysiology
- •13.1.7 Incidence
- •13.1.8 Natural History and Prognosis of STK (Signs, Symptoms, Timing, etc.)
- •13.1.9 Diagnosis and Diagnostic Aids
- •13.1.10 Treatment
- •13.1.11 Complications and Associations
- •13.1.12 Social and Family Impact
- •13.2 Wagner Disease
- •13.2.1 Introduction
- •13.2.2 Historical Context
- •13.2.3 Overview with Clinical Significance
- •13.2.4 Classification
- •13.2.5 Genetics
- •13.2.6 Pathophysiology
- •13.2.7 Incidence
- •13.2.9 Diagnosis and Diagnostic Aids
- •13.2.10 Treatment
- •13.2.11 Complications and Associations
- •13.2.12 Social and Family Impact
- •13.3 Juvenile X-Linked Retinoschisis
- •13.3.1 Introduction
- •13.3.2 Historical Context
- •13.3.3 Overview with Clinical Significance
- •13.3.4 Classification
- •13.3.5 Genetics
- •13.3.6 Pathophysiology
- •13.3.7 Incidence
- •13.3.9 Diagnosis and Diagnostic Aids
- •13.3.10 Treatment
- •13.3.11 Complications and Associations
- •13.3.12 Social and Family Impact
- •13.4.1 Introduction
- •13.4.2 Historical Context
- •13.4.3 Overview with Clinical Significance
- •13.4.4 Classification
- •13.4.5 Genetics
- •13.4.6 Pathophysiology
- •13.4.7 Incidence
- •13.4.9 Diagnosis and Diagnostic Aids
- •13.4.10 Treatment
- •13.4.11 Complications and Associations
- •13.4.12 Social and Family Impact
- •13.5 Goldmann-Favre Syndrome
- •13.5.1 Introduction
- •13.5.2 Historical Context
- •13.5.3 Overview with Clinical Significance
- •13.5.4 Classification
- •13.5.5 Genetics
- •13.5.6 Pathophysiology
- •13.5.7 Incidence
- •13.5.9 Diagnosis and Diagnostic Aids
- •13.5.10 Treatment
- •13.5.11 Complications and Associations
- •13.5.12 Social and Family Impact
- •13.6 Incontinentia Pigmenti (IP)
- •13.6.1 Introduction
- •13.6.2 Historical Context
- •13.6.3 Overview with Clinical Significance
- •13.6.4 Classification
- •13.6.5 Genetics
- •13.6.6 Pathophysiology
- •13.6.7 Incidence
- •13.6.9 Diagnosis and Diagnostic Aids
- •13.6.10 Treatment
- •13.6.11 Complications and Associations
- •13.6.12 Social and Family Impact
- •13.7.9 Diagnosis and Diagnostic Aids
- •13.7.10 Treatment
- •13.7.11 Complications and Associations
- •13.7.12 Social and Family Impact
- •References
- •14.1 Introduction
- •14.2 Clinical Course
- •14.3 Differential Diagnosis
- •14.4 Pathology
- •14.5 Selected Conditions
- •14.6 Treatment
- •References
- •15: Proliferative Retinopathies in Children
- •15.1 Introduction
- •15.2 Historical Context
- •15.3 Overview with Clinical Significance
- •15.4 Classification
- •15.5 Genetics (table 15.1)
- •15.5.1 Pathophysiology
- •15.5.2 Natural History and Prognosis
- •15.5.3 Diabetes Mellitus
- •15.5.4 Sickle Cell Disease
- •15.5.5 Incontinentia Pigmenti
- •15.6 Complications and Associations
- •15.7 Social and Family Impact
- •References
- •16: Infectious Diseases of the Pediatric Retina
- •16.1 Introduction
- •16.2 Protozoal Diseases
- •16.2.1 Toxoplasma gondii
- •16.2.1.1 Life Cycle and Transmission
- •16.2.1.2 Epidemiology
- •16.2.1.3 Congenital Infection
- •16.2.1.4 Ocular Disease
- •16.2.1.5 Immunocompromised Patients
- •16.2.1.6 Diagnosis of Ocular Toxoplasmosis
- •16.2.1.7 Treatment
- •16.2.1.8 Treatment in Special Situations
- •16.3 Viral Diseases
- •16.3.1 Cytomegalovirus Retinitis
- •16.3.1.1 Congenital CMV Infection
- •16.3.1.2 Ocular Manifestations
- •16.3.1.3 Acquired CMV Infection
- •16.3.1.4 Ocular Disease
- •16.3.1.5 Pathology
- •16.3.1.6 Diagnosis
- •16.3.1.7 Therapy
- •16.3.2 Varicella Zoster Virus
- •16.3.2.1 Ocular Manifestations
- •16.3.3 Herpes Simplex Virus
- •16.3.3.1 Ocular Disease
- •16.3.4 Acute Retinal Necrosis
- •16.3.4.1 Clinical Presentation
- •16.3.4.2 Diagnosis
- •16.3.4.3 Treatment
- •16.3.5 HIV Infection
- •16.3.5.1 Ocular Manifestations
- •16.3.5.2 Noninfectious HIV Microangiopathy
- •16.3.6 Measles
- •16.3.7 Rubella
- •16.3.7.1 Congenital Rubella Syndrome
- •16.4 Parasitic Infection
- •16.4.1 Toxocariasis
- •16.4.1.1 Ocular Involvement
- •16.4.1.2 Diagnosis
- •16.4.1.3 Differential Diagnosis
- •16.4.1.4 Treatment
- •16.4.2 Onchocerciasis
- •16.4.2.1 Ocular Manifestations
- •16.4.2.2 Diagnosis and Treatment
- •16.5 Bacterial Diseases
- •16.5.1 Syphilis
- •16.5.1.1 Clinical Manifestations
- •16.5.1.2 Congenital Syphilis
- •16.5.1.3 Acquired Syphilis
- •16.5.1.4 Diagnosis
- •16.5.1.5 Syphilis and AIDS
- •16.5.1.6 Treatment
- •16.5.2 Tuberculosis
- •16.5.2.1 Ocular Manifestation
- •16.5.2.2 Diagnosis
- •16.5.2.3 Tuberculosis and AIDS
- •16.5.2.4 Treatment
- •16.6 Rare Childhood Bacterial Diseases
- •16.6.1 Brucellosis
- •16.6.2 Leptospirosis
- •16.6.3 Lyme Disease
- •16.6.4 Cat Scratch Disease
- •16.7 Fungal Disease
- •16.7.1 Histoplasmosis
- •16.7.1.1 Ocular Histoplasmosis Syndrome (OHS)
- •16.7.1.2 Diagnosis and Treatment
- •16.7.2 Fungal Endophthalmitis
- •16.7.2.1 Endogenous Fungal Endophthalmitis
- •Candidiasis
- •Ocular Features
- •Diagnosis and Treatment
- •Rare Causes of Endogenous Endophthalmitis
- •Aspergillosis
- •Cryptococcosis
- •Histoplasmosis
- •Pneumocystis carinii
- •North American Blastomycosis
- •Coccidiomycosis
- •Other Fungal Infections
- •16.7.2.2 Exogenous Fungal Endophthalmitis
- •16.8 Rickettsial Disease
- •References
- •17.1 Introduction
- •17.2 Age of Victims
- •17.4 Perpetrators
- •17.5 Brain Injury
- •17.6 Skeletal Injuries
- •17.7 Acute Ophthalmic Findings
- •17.8 Dating of Retinal Hemorrhages
- •17.9 Treatment of Retinal Hemorrhages
- •17.10 Late Ophthalmic Findings
- •17.13 The Role of the Ophthalmologist
- •References
- •18: Pediatric Retinal Trauma
- •18.1 Introduction
- •18.2 Epidemiology
- •18.3 Etiology of Trauma
- •18.3.1 Sports
- •18.3.2 Assault
- •18.3.3 Birth Trauma
- •18.3.4 Projectile Injury
- •18.3.5 Miscellaneous Causes
- •18.3.6 Sympathetic Ophthalmia
- •18.4 Closed Globe Injuries
- •18.4.1 Traumatic Macular Hole
- •18.4.2 Commotio Retinae
- •References
- •19: Pediatric Uveitis
- •19.1 General Introduction
- •19.2 Classification
- •19.3 Social and Family Impact
- •19.4 Noninfectious
- •19.4.1 Juvenile Rheumatoid Arthritis
- •19.4.1.1 Historical Context
- •19.4.1.2 Clinical Findings/Natural History
- •Subtypes of JRA (Table 19.2) .
- •Screening Guidelines
- •Pathophysiology
- •Diagnosis/Treatment
- •Genetics
- •Complications
- •19.4.2 HLA-B27-Associated Uveitis
- •19.4.2.1 Historical Context
- •19.4.2.2 Clinical Findings/Natural History
- •Pathophysiology/Genetics
- •Diagnosis/Treatment/Complications
- •19.4.3 Tub ulointerstitial Nephritis and Uveitis (TINU)
- •19.4.3.1 Historical Context
- •19.4.3.2 Clinical Findings/Natural History
- •Pathophysiology/Genetics
- •Diagnosis/Treatment/Complications
- •19.4.4 Sarcoidosis
- •19.4.4.1 Historical Context
- •19.4.4.2 Clinical Findings/Natural History
- •Pathophysiology
- •Genetics
- •Diagnosis/Treatment/Complications
- •19.4.5 Pars Planitis
- •19.4.5.1 Historical Context
- •19.4.5.2 Clinical Findings/Natural History
- •Pathophysiology/Genetics
- •Diagnosis
- •Treatment
- •Step 1
- •Step 2
- •Step 3
- •Step 4
- •Complications
- •19.5 Infectious
- •19.5.1 Toxoplasmosis
- •19.5.1.1 Historical Context/Pathophysiology
- •19.5.1.2 Clinical Findings/Natural History
- •Genetics
- •Diagnosis/Treatment/Complications
- •19.5.2 Toxocariasis
- •19.5.2.1 Historical Context/Pathophysiology
- •19.5.2.2 Clinical Findings/Natural History
- •Genetics
- •Diagnosis/Treatment/Complications
- •19.5.3 Bartonella henselae
- •19.5.3.1 Historical Context/Pathophysiology
- •19.5.3.2 Clinical Findings/Natural History
- •Genetics
- •Diagnosis/Treatment/Complications
- •19.5.4.1 Historical Context/Pathophysiology
- •19.5.4.2 Clinical Findings/Natural History
- •Genetics
- •Diagnosis/Treatment/Complications
- •19.5.5 Congenital Ocular Syphilis
- •19.5.5.1 Historical Context/Pathophysiology
- •19.5.5.2 Clinical Findings/Natural History
- •Genetics
- •Diagnosis/Treatment/Complications
- •References
- •Index
Pediatric Retinal Trauma |
18 |
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Michael A. Samuel and Khaled A. Tawansy |
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18.1 Introduction
Trauma to the posterior segment of the globe in children encompasses a wide variety of presentations and clinical manifestations. It often results in significant ocular morbidity and remains the most frequent cause of unilateral blindness [1, 2]. The consequences of pediatric ocular trauma pose a serious challenge to the patient, family, and treating ophthalmologist. Several features of the child’s response to ocular trauma make treatment difficult. These include (1) the child’s high level of anxiety, which may necessitate anesthesia for an accurate examination; (2) a vigorous and exuberant healing response with a significant fibrotic component;
(3) different surgical anatomy and physical relationships that require specific understanding, and the battle with amblyopia that begins at the moment of the injury and compounded by media opacities, aphakia, undesired astigmatism, and retinal pathology.
In recent years, there have been advances in both the medical and surgical management of such injuries, including the advent of new vitreoretinal surgical instrumentation and principles. These advances in combination with careful evaluation and aggressive intervention have improved visual recovery in some cases. In this chapter, we discuss a spectrum of posterior segment injuries in children. We review the principles of epidemiology, diagnosis, and clinical management when appropriate.
To aid in the evaluation and management of trauma, a classification system has been proposed by Kuhn
M.A. Samuel and K.A. Tawansy (*)
Children’s Hospital of Los Angeles, 7447 N. Figueroa Street, Suite 200, Los Angeles, CA 90041, USA
e-mail: ktawansy@chla.usc.edu
et al. [3]. We find this classification to be unambiguous and critically important in organizing commonly used terms into a usable language. In its simplest form, ocular trauma can be divided into two categories: closed globe and open globe injuries. Closed globe injury denotes an absence of a full-thickness wound. Instead, a closed globe injury involves blunt trauma to the globe or adjacent structures with no resulting corneal or scleral wound, a form of contusion injury. A closed globe injury may also involve partial thickness lacerations of the eye wall. Open globe injuries result in a full-thickness wound, which can be further divided into subcategories based upon the type and extent of damage. A full-thickness wound of the eye wall caused by a blunt object is defined as a rupture. A similar injury caused by a sharp object is defined as a laceration. Lacerations can either penetrate the eye if there is a single eye wall laceration, or perforate the eye if entry and exit lacerations are present. Finally, corneal and scleral lacerations can also be associated with intraocular foreign bodies.
18.2 Epidemiology
Ocular trauma in children is relatively common and potentially preventable. It has been estimated that 90% of all ocular injuries can be avoided with proper eye protection and supervision [4]. It is important to understand the epidemiology of this public health problem in order to determine the most effective methods of reducing damage.
Several large series have been published describing the epidemiology of pediatric eye injuries [5–7]. However, large population-based studies are few. Estimates of the incidence of ocular trauma in children
J. Reynolds and S. Olitsky (eds.), Pediatric Retina, |
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DOI: 10.1007/978-3-642-12041-1_18, © Springer-Verlag Berlin Heidelberg 2011 |
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