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Table of Contents
Nystagmus
Introduction
Infantile Nystagmus
Clinical Features
Onset of Infantile Nystagmus
Terminology
History and Physical Examination
ERG
Hemispheric Visual Evoked Potentials
Overlap of Infantile Nystagmus and Strabismus
Eye Movement Recordings in Infantile Nystagmus
Contrast Sensitivity and Pattern Detection Thresholds in Infantile Nystagmus
Theories of Causation
Visual Disorders Precipitating Infantile Nystagmus
When to Obtain Neuroimaging Studies in Children with Nystagmus
Treatment
Spasmus Nutans
Russell Diencephalic Syndrome of Infancy
Monocular Nystagmus
Nystagmus Associated with Infantile Esotropia
Torsional Nystagmus
Horizontal Nystagmus
Nystagmus
Nystagmus Blockage Syndrome
Treatment of Nystagmus Blockage Syndrome
Vertical Nystagmus
Upbeating Nystagmus in Infancy
Congenital Downbeat Nystagmus
Hereditary Vertical Nystagmus
Periodic Alternating Nystagmus
Seesaw Nystagmus
Congenital versus Acquired Seesaw Nystagmus
Saccadic Oscillations that Simulate Nystagmus
Retraction Nystagmus
Opsoclonus and Ocular Flutter
Voluntary Nystagmus
Ocular Bobbing
Neurological Nystagmus
Leigh Subacute Necrotizing Encephalomyelopathy
Pelizaeus-Merzbacher Disease
Joubert Syndrome
Santavuori-Haltia Disease
Infantile Neuroaxonal Dystrophy
Deficient Glycoprotein Syndromes
Down Syndrome
Hypothyroidism
Maple Syrup Urine Disease
Nutritional Nystagmus
Epileptic Nystagmus
Cobalamin C Methylmalonic Aciduria and Homocystinuria
Familial Vestibulocerebellar Disorder
Summary
9. Torticollis and Head Oscillations
Introduction
Torticollis
Ocular Torticollis
Head Tilts
Head Turns
Vertical Head Positions
Refractive Causes of Torticollis
Neuromuscular Causes of Torticollis
Systemic Causes of Torticollis
Head Oscillations
Head Nodding with Nystagmus
Head Nodding without Nystagmus
Visual Disorders
Otological Abnormalities
Systemic Disorders
10. Neuro-Ophthalmologic Manifestations of Neurodegenerative Disorders
Introduction
Neuronal Disease
Neuronal Ceroid Lipofuscinosis
Lysosomal Diseases
Gangliosidoses
Mucopolysaccharidoses
Subacute Sclerosing Panencephalitis
White Matter Disorders
Metachromatic Leukodystrophy
Canavan Disease (Spongy Degeneration of Cerebral White Matter)
Krabbe Disease
Pelizaeus?Merzbacher Disease
Cockayne Syndrome
Alexander Disease
Sjögren?Larsson Syndrome
Cerebrotendinous Xanthomatosis
Peroxisomal Disorders
Zellweger Syndrome
Adrenoleukodystrophy
Basal Ganglia Disease
Pantothenate Kinase-Associated Neurodegeneration
Wilson Disease
Aminoacidopathies and Other Biochemical Defectsl
Maple Syrup Urine Disease
Homocystinuria
Abetalipoproteinemia
Mitochondrial Encephalomyelopathies
Chronic Progressive External Ophthalmoplegia (CPEO)
Leigh Subacute Necrotizing Encephalomyelopathy
Mitochondrial Encephalomyelopathy and Stroke-Like Episodes (MELAS)
Myoclonic Epilepsy and Ragged Red Fibers (MERRF)
Mitochondrial Depletion Syndrome
Congenital Disorders of Glycosylation
Horizons
11. Neuro-Ophthalmologic Manifestations of Systemic and Intracranial Disease
Introduction
The Phakomatoses
Neurofibromatosis (NF1)
Neurofibromatosis 2 (NF2)
Tuberous Sclerosis
Sturge?Weber Syndrome
von Hippel?Lindau Disease
Ataxia Telangiectasia
Linear Nevus Sebaceous Syndrome
Klippel.
Introduction
Infantile Nystagmus
Clinical Features
Onset of Infantile Nystagmus
Terminology
History and Physical Examination
ERG
Hemispheric Visual Evoked Potentials
Overlap of Infantile Nystagmus and Strabismus
Eye Movement Recordings in Infantile Nystagmus
Contrast Sensitivity and Pattern Detection Thresholds in Infantile Nystagmus
Theories of Causation
Visual Disorders Precipitating Infantile Nystagmus
When to Obtain Neuroimaging Studies in Children with Nystagmus
Treatment
Spasmus Nutans
Russell Diencephalic Syndrome of Infancy
Monocular Nystagmus
Nystagmus Associated with Infantile Esotropia
Torsional Nystagmus
Horizontal Nystagmus
Nystagmus
Nystagmus Blockage Syndrome
Treatment of Nystagmus Blockage Syndrome
Vertical Nystagmus
Upbeating Nystagmus in Infancy
Congenital Downbeat Nystagmus
Hereditary Vertical Nystagmus
Periodic Alternating Nystagmus
Seesaw Nystagmus
Congenital versus Acquired Seesaw Nystagmus
Saccadic Oscillations that Simulate Nystagmus
Retraction Nystagmus
Opsoclonus and Ocular Flutter
Voluntary Nystagmus
Ocular Bobbing
Neurological Nystagmus
Leigh Subacute Necrotizing Encephalomyelopathy
Pelizaeus-Merzbacher Disease
Joubert Syndrome
Santavuori-Haltia Disease
Infantile Neuroaxonal Dystrophy
Deficient Glycoprotein Syndromes
Down Syndrome
Hypothyroidism
Maple Syrup Urine Disease
Nutritional Nystagmus
Epileptic Nystagmus
Cobalamin C Methylmalonic Aciduria and Homocystinuria
Familial Vestibulocerebellar Disorder
Summary
9. Torticollis and Head Oscillations
Introduction
Torticollis
Ocular Torticollis
Head Tilts
Head Turns
Vertical Head Positions
Refractive Causes of Torticollis
Neuromuscular Causes of Torticollis
Systemic Causes of Torticollis
Head Oscillations
Head Nodding with Nystagmus
Head Nodding without Nystagmus
Visual Disorders
Otological Abnormalities
Systemic Disorders
10. Neuro-Ophthalmologic Manifestations of Neurodegenerative Disorders
Introduction
Neuronal Disease
Neuronal Ceroid Lipofuscinosis
Lysosomal Diseases
Gangliosidoses
Mucopolysaccharidoses
Subacute Sclerosing Panencephalitis
White Matter Disorders
Metachromatic Leukodystrophy
Canavan Disease (Spongy Degeneration of Cerebral White Matter)
Krabbe Disease
Pelizaeus?Merzbacher Disease
Cockayne Syndrome
Alexander Disease
Sjögren?Larsson Syndrome
Cerebrotendinous Xanthomatosis
Peroxisomal Disorders
Zellweger Syndrome
Adrenoleukodystrophy
Basal Ganglia Disease
Pantothenate Kinase-Associated Neurodegeneration
Wilson Disease
Aminoacidopathies and Other Biochemical Defectsl
Maple Syrup Urine Disease
Homocystinuria
Abetalipoproteinemia
Mitochondrial Encephalomyelopathies
Chronic Progressive External Ophthalmoplegia (CPEO)
Leigh Subacute Necrotizing Encephalomyelopathy
Mitochondrial Encephalomyelopathy and Stroke-Like Episodes (MELAS)
Myoclonic Epilepsy and Ragged Red Fibers (MERRF)
Mitochondrial Depletion Syndrome
Congenital Disorders of Glycosylation
Horizons
11. Neuro-Ophthalmologic Manifestations of Systemic and Intracranial Disease
Introduction
The Phakomatoses
Neurofibromatosis (NF1)
Neurofibromatosis 2 (NF2)
Tuberous Sclerosis
Sturge?Weber Syndrome
von Hippel?Lindau Disease
Ataxia Telangiectasia
Linear Nevus Sebaceous Syndrome
Klippel.