- •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
14 Macular Choroidal Neovascularization and Defects in Bruch’s Membrane in Children |
349 |
|
|
Table 14.3 Preand postsurgical change in vision after CNV excision (mean follow-up 2 years)
VA pre/post surgery (%) |
Sears et al. n = 18 |
³20/60 |
6/44 |
20/70–20/150 |
11/28 |
£20/200 |
83/28 |
|
|
What is the best method of treatment? At this point, there are and will be no randomized prospective clinical trials to assess intervention in this rare disorder. There is no clear rational for which treatment is superior. It may be that targeted anti-VEGF agents or combination therapy with OPT and intravitreal steroid will improve on the surgical management of these patients. In the absence of this data, the following recommendations are these. No regression of subfoveal CNV as evidenced by increasing macular detachment at least twice the size of the CNV or presence of blood with visual acuity of 20/200 or worse may suggest that surgical management of subfoveal neovascularization is a better option than observation. Close follow-up for recurrence at 1–3 month intervals over the first year may be necessary to evaluate for recurrent CNV. Finally, caution must be exercised in recommending surgery because of the more favorable prognosis for regression of subfoveal CNV in children. There is little doubt that anti-VEGF therapy may replace surgical interaction.
References
1. Wilson, M.E., Mazur, D.O.: Choroidal neovascularization in children: report of five cases and literature review. J. Pediatr. Ophthalmol. Strabismus 25, 23–29 (1988)
2. Goshorn, E.B., Hoover, D.L., Eller, A.W., et al.: Subretinal neovascularization in children and adolescents. J. Pediatr. Ophthalmol. Strabismus 32, 178–182 (1995)
3. Olsen, T.W., Capone Jr., A., Sternberg Jr., P., et al.: Subfoveal choroidal neovascularizationm in puntate inner choroidopathy: surgical management and pathologic findings. Ophthalmology 103, 2061–2069 (1996)
4. Thomas, M.A., Kaplan, H.J.: Surgical removal of subfoveal neovascularization in the presumed ocular histoplasmosis syndrome. Am. J. Ophthalmol. 111, 1–7 (1991)
5. Moshfeghi, D.M., Sears, J.E., Lewis, H.: Submacular surgery for choroidal neovascularization following nocardial endophthalmitis. Retina 24(1), 161–164 (2004)
6. Brown, S.M., Del Monte, M.A.: Choroidal neovascularization associated with optic nerve head drusen in a child. Am. J. Ophthalmol. 121, 215–217 (1996)
7. Inoue, M., Noda, K., Ishida, S., Yamaguchi, T., Nagai, N., Shinoda, K., Shinoda, H., Oguchi, Y.: Successful treatment
of subfoveal choroidal neovascularization associated with combined hamartoma of the retina and retinal pigment epithelium. Am. J. Ophthalmol. 138(1), 155–156 (2004)
8. Marano, F., Deutman, A.F., Leys, A., Aandekerk, A.L.: Hereditary retinal dystrophies and choroidal neovascularization. Graefes Arch. Clin. Exp. Ophthalmol. 238(9), 760–764 (2000)
9. Small, K.W., Weber, J., Roses, A., Pericak-Vance, P.: North Carolina macular dystrophy (MCDR1). A review and refined
mapping to 6q14-q16.2. Ophthalmic Paediatr. Genet. 14(4), 143–150 (1993)
10.Gross, J.G., King, L.P., DeJuan Jr., E., Powers, T.: Subfoveal neovascular membrane removal in patients with traumatic choroidal rupture. Ophthalmology 103, 579–585 (1996)
11.Grossniklaus, H.E., Gass, J.D.: Clinicopathologic correlations of surgically excised type 1 and type 2 submacular choroidal neovascular membranes. Am. J. Ophthalmol. 126(1), 59–69 (1998)
12.Marmorstein, A.D., Stanton, J.B., Yocom, J., Bakall, B., Schiavone, M.T., Wadelius, C., Marmorstein, L.Y., Peachey, N.S.: A model of best vitelliform macular dystrophy in rats. Invest. Ophthalmol. Vis. Sci. 45(10), 3733–3739 (2004)
13.Small, K.W., Udar, N., Yelchits, S., Klein, R., Garcia, C., Gallardo, G., Puech, B., Puech, V., Saperstein, D., Lim, J., Haller, J., Flaxel, C., Kelsell, R., Hunt, D., Evans, K., Lennon, F., Pericak-Vance, M.: North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis. Mol. Vis. 5, 38 (1999)
14.Burgess, D.B.: Ocular histoplasmosis syndrome. Ophthalmo logy 93, 967–968 (1986)
15.PDT of subfoveal CNV in AMD with verteporfin: one year results of 2 randomized clinical trials – TAP report. Arch. Ophthalmol. 117(10), 1329–1345 (1999)
16.Gragoudas, E.S., Adamis, A.P., Cunningham, E.T. Jr., Feinsod, M., Guyer, D.R.; VEGF Inhibition Study in Ocular Neovascularization Clinical Trial Group. Pegaptanib for neovascular age-related macular degeneration. N. Engl. J. Med. 351(27), 2805–2816 (2004)
17.Hawkins, B.S., Miskala, P.H., Bass, E.B., Bressler, N.M., Childs, A.L., Mangione, C.M., Marsh, M.J.; Submacular Surgery Trials Research Group. Surgical removal vs observation for subfoveal choroidal neovascularization, either associated with the ocular histoplasmosis syndrome or idiopathic: II. Quality-of-life findings from a randomized clinical trial: SST Group H Trial: SST Report No. 10. Arch. Ophthalmol. 122(11), 1616–1628 (2004)
18.Sears, J., Capone Jr., A., Aaberg Sr., T.M., et al.: Surgical management of subfoveal CNV in children. Ophthalmology 106, 920–924 (1999)
19.Uemura, A., Thomas, M.: Visual Outcome after surgical removal of choroidal neovascularization in pediatric patients. Arch. Ophthalmol. 118, 1373–1378 (2000)
20.Mimouni, K.F., Bressler, S.B., Bressler, N.M.: Photodynamic therapy with verteporfin for subfoveal choroidal neovascularization in children. Am. J. Ophthalmol. 135(6), 900–902 (2003)
21.Giansanti, F., Virgili, G., Varano, M., Tedeschi, M., Rapizzi, E., Giacomelli, G., Menchini, U.: Photodynamic therapy for choroidal neovascularization in pediatric patients. Retina 25(5), 590–596 (2005)