- •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
358 |
|
P.J. Ferrone and S. Awner |
|
|
|
|
|
Fig. 15.5 (a) Pigmented skin |
a |
b |
|
lesions on the torso of a |
|||
|
|
||
4-year-old female patient |
|
|
|
with incontinentia pigmenti |
|
|
|
(IP). (b) Color fundus photo |
|
|
|
showing laser scars in the |
|
|
|
periphery with faint NV in |
|
|
|
the midperiphery. (c) Fresh |
|
|
|
laser spots in the superonasal |
|
|
|
midperiphery after focal |
|
|
|
treatment of NV in this |
|
|
|
patient |
|
|
|
|
c |
|
hemorrhage may be avoided. Close ophthalmic screening and follow-up are essential from birth on to help prevent blindness in these patients. This even applies after treatment with peripheral ablation in this disease, because of the risk of progressive capillary dropout and further NV formation [1]. These eyes are at risk for life as the onset of retinopathy is variable.
result of amblyopia, retinal dragging, or refractive changes induced by the disease. High myopia can occur early in life as well, specifically, as a result of occlusion caused by vitreous hemorrhage in these young patients [41], and spectacle correction of high myopia as young as 4–6 months of age is recommended.
15.6 Complications and Associations
All of the above mentioned diseases may cause NV leading to vitreous hemorrhage and traction retinal detachment and even phthisis bulbi in infants and children. All of these diseases can cause deprivation or anisometropic amblyopia as a result of surgical aphakia created through the management of their complicated retinal detachments. Aphakic correction with spectacles or contact lenses is an important factor in visual rehabilitation of these patients. Prompt aphakic correction is necessary (within weeks) of surgery in infants less than 4 months of age during the critical period of visual development. In all of these diseases, strabismus can also develop as a
15.7 Social and Family Impact
All of these diseases exact a heavy toll on the patient as well as the family, even if blindness is avoided in these patients. The financial cost and time cost due to the extensive screening, follow-up and postoperative care are a significant burden on the families and very disruptive and stressful to any family structure and income. This in turn can lead to issues of guilt and anger on the part of the parents as well as older patients. Resources to assist parents in dealing with visually impaired infants vary regionally and nationally. Many larger communities provide support groups, teachers for the visually impaired, visually impaired student preschool programs and low vision aids that are all useful for school-age children.
15 Proliferative Retinopathies in Children |
359 |
|
|
References
1. Goldberg, M.F.: Macular vasculopathy in its evolution incontinentia pigmenti. Ophthalmic Genet. 19(3), 141–148 (1998)
2. Klein, R., Palta, M., Allen, C., et al.: Incidence of retinopathy and associated risk factors from time of diagnosis of insulindependent diabetes. Arch. Ophthalmol. 115(3), 351–356 (1997)
3. Jackson, R.L., Ida, C.H., Guthrie, R.A., et al.: Retinopathy in adolescents in young adults with onset of insulin-depen- dent diabetes in childhood. Ophthalmology 89, 7–13 (1982)
4. Verougstraete, C., Toussaint, D., de Schepper, J., et al.: First microangiographic abnormalities in childhood diabetes: types of lesions. Graefes Arch. Clin. Exp. Ophthalmol. 229, 24–32 (1991)
5. Diabetic Retinopathy Study Research Group: Report VII: a modification of airlie house classification of diabetic retinopathy. Invest. Ophthalmol. Vis. Sci. 21, 210–226 (1981)
6. Holl, R.W., Lang, G.E., Grabert, M., et al.: Diabetic retinopathy in pediatric patients with type I diabetes: effect of diabetes duration, prepubertal and pubertal onset of diabetes, and metabolic control. J. Pediatr. 132(5), 790–794 (1998)
7. Diabetes Control and Complications Research Group: The effect of intensive treatment of diabetes on the development of progression of long-term complications in insulin-dependent diabetes mellitus. N. Engl. J. Med. 329, 977–986 (1993)
8. Diabetes Control and Complications Research Group: Effective intensive diabetes treatment on the development of progression of long-term complications in adolescents with insulin dependent diabetes mellitus. J. Pediatr. 125, 177–188 (1994)
9. DiabeticRetinopathyStudyResearchGroup:Photocoagulation treatment and proliferative diabetic retinopathy: the second report of diabetic retinopathy study findings. Ophthalmolgy 85, 82–106 (1978)
10.Early Treatment Diabetic Retinopathy Study Research Group: Case reports to accompany early treatment diabetic retinopathy study reports 3 and 4. Int. Ophthalmol. Clin. 27, 273–333 (1987)
11.Diabetic Retinopathy Vitrectomy Study Report #5.: Early vitrectomy for severe vitreous hemorrhage in diabetic retinopathy. Four year results of a randomized trial. Arch. Ophthalmol. 108, 958–964 (1990)
12.American Diabetes Association: Diabetic retinopathy. Diabetes Care 21(1), 157–159 (1998)
13.American Academy of Pediatrics: Screening for retinopathy in the pediatric patient with type I diabetes mellitus. Pediatrics 101(2), 313–314 (1998)
14.Holl, R.W., Lang, G., Heinze, B., et al.: Both prepubertal and pubertal duration of diabetes affect the incidence of diabetic retinopathy. Horm. Metab. Res. 48(Suppl 2), 7 (1997)
15.Donaghue, K.C., Fung, A.T., Hing, S., et al.: The effect of prepubital diabetes duration on diabetic microvascular complications in early and late adolescence. Diabetes Care 20, 77–80 (1997)
16.Vitale, S., Maguire, M.G., Murphy, R.P., et al.: Interval between onset of mild nonproliferative and proliferative retinopathy in type I diabetes. Arch. Ophthalmol. 115(2), 194–198 (1997)
17.Sjolie, A.K., Stephenson, J., Aldington, S., et al.: Retinopathy and vision loss in insulin-dependent diabetes in Europe. The Eurodiab IDDM Complications Study. Ophthalmology 104(2), 252–260 (1997)
18.Welch, R.B., Goldberg, M.F.: Sickle-cell hemoglobin and its relation to fundus abnormality. Arch. Ophthalmol. 75, 353– 362 (1966)
19.Condon, P.I., Sergeant, G.R.: Behavior of untreated sickle retinopathy. Br. J. Ophthalmol. 64, 404–411 (1980)
20.Goldberg, M.F.: Retinal neovascularization in sickle cell retinopathy. Trans. Am. Acad. Ophthalmol. Otolaryngol. 83, 409–431 (1977)
21.Goldberg, M.F.: Natural history of untreated proliferative sickle retinopathy. Arch. Ophthalmol. 85, 428–437 (1971)
22.Gagliano, D.A., Goldberg, M.F.: The evolution of salmon patch hemorrhages in sickle cell retinopathy. Arch. Ophthalmol. 107, 1814–1815 (1989)
23.Romayananda, N., Goldberg, M.F., Green, W.R.: Histopathology of sickle cell retinopathy. Trans. Am. Acad. Ophthalmol. Otolaryngol. 77, 652–657 (1973)
24.Codon, P.I., Sergeant, G.R.: Ocular findings in hemoglobin sc disease in jamaica. Am. J. Ophthalmol. 74, 921–931 (1972)
25.Codon, P.I., Sergeant, G.R.: Ocular findings in sickle cell thalassemia in jamaica. Am. J. Ophthalmol. 74, 1105–1109 (1972)
26.Asdourian, G.K., Nagpal, K.C., Goldbaum, M., et al.: Evolution of the retinal black sunburst in sickling hemoglobinopathies. Br. J. Ophthalmol. 59, 710–716 (1975)
27.McLeod, D.S., Goldberg, M.F., Lutty, G.A.: Dual perspective analysis of vascular formations in sickle cell retinopathy. Arch. Ophthalmol. 111, 1234–1245 (1993)
28.Goldberg, M.F., Jampol, L.M.: Treatment of Neovasculariza tion, Vitreous Hemorrhage, and Retinal Detachment in Sickle Cell Retinopathy. Transactions of the New Orleans Academy of Ophthalmology, pp. 53–81. CV Mosby, St Louis (1983)
29.Rednam, K., Jampol, L.M., Goldberg, M.F.: Scatter retinal photocoagulation for proliferative sickle cell retinopathy. Am. J. Ophthalmol. 93, 594–599 (1982)
30.Ryan, S.J., Goldberg, M.F.: Anterior segment ischemia following scleral buckling and sickle cell hemoglobinopathy. Am. J. Ophthalmol. 72, 35–50 (1971)
31.Brazier, D.H., Gregor, Z.J., Blach, R.K., et al.: Retinal detachment in patients with proliferative sickle cell retinopathy. Trans. Ophthalmol. Soc. UK 105, 100–105 (1986)
32.Goldberg, M.F.: The blinding mechanisms of incontinentia pigmenti. Trans. Am. Ophthalmol. Soc. 92, 167–176 (1994)
33.Goldberg, M.F., Custis, P.H.: Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger Syndrome). Ophthalmology 100(11), 1645–1654 (1993)
34.Raab, E.L.: Ocular lesions in incontinentia pigmenti. J. Pediatr. Ophthalmol. Strabismus 20(2), 42–48 (1983)
35.Fu, L.W., Soong, W.J., Tsai, S.C., et al.: Retinopathy in incontinentia pigmenti: neonatal case report. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 36(3), 210–213 (1995)
36.Wald, K.J., Mehta, M.C., Katsumi, O., et al.: Retinal detachments in incontinentia pigmenti. Arch. Ophthalmol. 111(5), 614–617 (1993)
37.Fard, A.K., Goldberg, M.F.: Persistence of fetal vasculature in the eyes of patients with incontinentia pigmenti. Arch. Ophthalmol. 116(5), 682–684 (1998)
360 |
P.J. Ferrone and S. Awner |
|
|
38.Soltau, J.B., Lueder, G.T.: Bilateral macular lesion in incontinentia pigmenti. Bloch-Sulzberger Syndrome. Retina 16(4), 348–352 (1996)
39.Holmstrom, G., Thoren, K.: Ocular manifestations of incontinentia pigmenti. Acta Ophthalmol. Scand. 78(3), 348–353 (2000)
40.Rahi, J., Hungerford, J.: Early diagnosis of the retinopathy of incontinentia pigmenti: successful treatment by cryotherapy. Br. J. Ophthalmol. 74(6), 377–379 (1990)
41.Miller-Meeks, M.J., Bennett, S.R., Keech, R.V., et al.: Myopia induced by vitreous hemorrhage. Am. J. Ophthalmol. 109(2), 199–203 (1990)
42.Smahi, A., Hyden-Granskog, C., Peterlin, B., et al.: The gene for the familial form of incontinentia pigmenti (IP 2) maps to the distal part of Xq28. Hum Mol Genet 1994; 3: 273−278.