Pediatric Neuro-Ophthalmology

Michael C. Brodsky, MDProfessor of Ophthalmology and NeurologyKnights Templar Professor of Ophthalmology ResearchMayo Clinic College of MedicineRochester, MN USA

“The text contains 146 color illustrations, many of which are fundus photographs. These are uniformly excellent. As to be expected, a number of CT Scans and MRI scans are included as well. This is a remarkable book. It is a text that should be included in every Neuro-Ophthalmologist’s library … .” (Walter M. Jay, Neuro-Ophthalmology, 2017)

• 1. The Apparently Blind Infant.- Introduction.- Hereditary Retinal Disorders.- Leber Congenital Amaurosis.- Joubert Syndrome.- Congenital Stationary Night Blindness.- Achromatopsia.- Congenital Optic Nerve Disorders.- Cortical Visual Insufficiency.- Causes of Cortical Visual Loss.- Neurologic and Systemic Disorders.- Characteristics of Visual Function.- Neuro-Ophthalmologic Findings.- Diagnostic and Prognostic Considerations.- Role of Visual Attention.- Subcortical Visual Loss (or Periventricular Leukomalacia).- Neuroimaging Abnormalities and their Implications.- Neuro-Ophthalmologic Findings.- Perceptual Difficulties.- Dorsal and Ventral Stream Dysfunction.- Pathophysiology.- Intraventricular Hemorrhage.- Periventricular and Intraventricular Hemorrhage.- Hemianopic Visual Field Defects in Children.- Delayed Visual Maturation.- Blindsight.- The Effect of Total Blindness on Circadian Regulation.- Horizons.- 2. Congenital Optic Disc Anomalies.- Introduction.- Optic Nerve Hypoplasia.- Excavated Optic Disc Anomalies.- Morning Glory Disc Anomaly.- Optic Disc Coloboma.- Peripapillary Staphyloma.- Megalopapilla.- Optic Pit.- Papillorenal Syndrome (The Vacant Optic Disc).- Congenital Tilted Disc Syndrome.- Optic Disc Dysplasia.- Congenital Optic Disc Pigmentation.- Aicardi Syndrome.- Doubling of the Optic Disc.- Optic Nerve Aplasia.- Myelinated (Medullated) Nerve Fibers.- The Albinotic Optic Disc.- 3. The Swollen Optic Disc.- Papilledema.- Idiopathic Intracranial Hypertension (IIH) in Children.- Optic Disc Swelling Secondary to Neurological Disease.- Optic Disc Swelling Secondary to Systemic Disease.- Uveitis.- Posttraumatic Optic Disc Swelling.- Intrinsic Optic Disc Tumors.- Optic Disc Hemangioma.- Tuberous Sclerosis.- Optic Disc Glioma.- Combined Hamartoma of the Retina and RPE.- Retrobulbar Tumors.- Optic Neuritis in Children.- History and Physical Examination.- Postinfectious Optic Neuritis.- Disseminated Encephalomyelitis.- MS and Pediatric Optic Neuritis.- Devic Disease (Neuromyelitis Optica).- Prognosis and Treatment.- Course of Visual Loss and Visual Recovery.- Systemic Prognosis.- Systemic Evaluation of Pediatric Optic Neuritis.- Treatment.- Leber Idiopathic Stellate Neuroretinitis.- Ischemic Optic Neuropathy.- Autoimmune Optic Neuropathy.- Pseudopapilledema.- Optic Disc Drusen.- Ocular Disorders Associated with Pseudopapilledema.- Systemic Disorders Associated with Pseudopapilledema.- 4. Optic Atrophy.- Introduction.- Optic Atrophy Associated with Retinal Disease.- Optic Atrophy Vs. Hypoplasia.- Causes of Optic Atrophy in Children.- Compressive/Infiltrative Intracranial Lesions.- Noncompressive Causes of Optic Atrophy in Children with Brain Tumors.- Hereditary Optic Atrophy.- Dominant Optic Atrophy (Kjer Type).- Leber Hereditary Optic Neuropathy.- Recessive Optic Atrophhy.- Behr Syndrome.- Wolfram Syndrome (DIDMOAD).- Toxic/Nutritional Optic Neuropathy.- Neurodegenerative Disorders with Optic Atrophy.- Organic Acidurias.- Optic Atrophy due to Hypoxia-Ischemia.- Traumatic Optic Atrophy.- Miscellaneous Causes.- Summary of the General Approach to the Child with Optic Atrophy.- 5. Transient, Unexplained, and Psychogenic Visual Loss .- Introduction.- Transient Visual Loss.- Migraine.- Epilepsy.- Posttraumatic Transient Cerebral Blindness.- Cardiogenic Embolism.- Nonmigrainous Cerebrovascular Disease.- Miscellaneous Transient Visual Disturbances in Children.- Toxic and Nontoxic Drug Effects.- Summary of Clinical Approach to the Child with Transient Visual Disturbances.- Laboratory Evaluation of Transient Visual Disturbances in Children.- Unexplained Visual Loss in Children.- Causes of Unexplained Visual Loss in Childhood.- Psychogenic Visual Loss in Children.- Clinical Profile.- Neuro-Ophthalmologic Findings.- Categories of Psychogenic Visual Loss in Children.- Management of Psychogenic Visual Loss in Children .- Horizons.- 6. Ocular Motor Nerve Palsies.- Introduction.- Oculomotor Nerve Palsy.- Clinical Anatomy.- Clinical Features.- Partial Forms of Oculomotor Palsy.- Oculomotor Synkinesis.- Etiology.- Vascular Third Nerve Palsy in Children.- Differential Diagnosis.- Management.- Trochlear Nerve Palsy.- Clinical Anatomy.- Clinical Features.- Bilateral Trochlear Nerve Palsy.- Etiology.- Differential Diagnosis.- Treatment.- Abducens Nerve Palsy.- Anatomy.- Clinical Features.- Causes of Sixth Nerve Palsy.- Differential Diagnosis.- Duane Retraction Syndrome.- Management of Sixth Nerve Pals.- Multiple Cranial Nerve Palsies in Children.- Horizons.- 7. Complex Ocular Motor Disorders.- Introduction.- Strabismus in Children with Neurological Dysfunction.- Visuovestibular Disorders.- Neurologic Esotropia.- Neurologic Exotropia.- Skew Deviation.- Gaze Palsies, Gaze Deviations, and Ophthalmoplegia.- Horizontal Gaze Palsy in Children.- Congenital Ocular Motor Apraxia.- Vertical Gaze Palsies in Children.- Diffuse Ophthalmoplegia in Children.- Chronic Progressive External Ophthalmoplegia.- Myasthenia Gravis.- Olivopontocerebellar Atrophy.- Botulism.- Fisher Syndrome: A Variant of Guillain–Barré Syndrome.- Bickerstaff Brainstem Encephalitis.- Tick Paralysis.- Wernicke Encephalopathy.- Miscellaneous Causes of Ophthalmoplegia.- Transient Ocular Motor Disturbances of Infancy.- Transient Neonatal Strabismus.- Transient Idiopathic Nystagmus.- Tonic Downgaze.- Tonic Upgaze .- Neonatal Opsoclonus .- Transient Vertical Strabismus in Infancy.- Congenital Cranial Dysinnervation Syndromes.- Congenital Ptosis.- Marcus Gunn Jaw Winking (Trigemino-Oculomotor Synkinesis).- Congenital Fibrosis Syndrome.- Congenital Horizontal Gaze Palsy with Scoliosis.- Möbius Sequence.- Monocular Elevation Deficiency, or “Double Elevator Palsy”.- Brown Syndrome.- Other Pathologic Synkineses.- Internuclear Ophthalmoplegia.- Cyclic, Periodic, or Aperiodic Disorders Affecting Ocular Structures.- Ocular Neuromyotonia.- Ocular Motor Adaptations and Disorders in Patients with Hemispheric Abnormalities.- Movement Tics.- Eyelid Abnormalities in Children.- Congenital Ptosis.- Excessive Blinking in Children.- Hemifacial Spasm.- Eyelid Retraction.- Apraxia of Eyelid Opening.- Pupillary Abnormalities.- Congenital Bilateral Mydriasis.- Accommodative Paresis.- Adie Syndrome.- Horner Syndrome.- 8. 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.- Treatmentof 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–Trenauney–Weber Syndrome.- Brain Tumors.- Suprasellar Tumors.- Arachnoid Cysts.- Cavernous Sinus Lesions.- Hemispheric Tumors.- Posterior Fossa Tumors.- Brainstem Tumors.- Tumors of the Pineal Region.- Meningiomas.- Epidermoids and Dermoids.- Gliomatosis Cerebri.- Metastasis.- Complications of Treatment of Intracranial Tumors inChildren.- Hydrocephalus.- Hydrocephalus due to CSF Overproduction.- Noncommunicating Hydrocephalus.- Communicating Hydrocephalus.- Common Causes of Hydrocephalus in Children.- Clinical Features of Hydrocephalus.- Effects and Complications of Treatment.- Vascular Lesions.- AVMs.- Cavernous Angiomas.- Intracranial Aneurysms.-Isolated Venous Ectasia.- Craniocervical Arterial Dissection.- Strokes in Children.- Cerebral Venous Thrombosis.- Cerebral Dysgenesis and Intracranial Malformations.- Destructive Brain Lesions.- Malformations Due to Abnormal Stem Cell Proliferation or Apoptosis.- Malformations Due to Abnormal Neuronal Migration.- Malformations Secondary to Abnormal Cortical Organization and Late Migration.- Anomalies of the Hypothalamic–Pituitary Axis.- Encephaloceles.- Cerebellar Malformations.- Miscellaneous.- Congenital Corneal Anesthesia.- Reversible Posterior.- Leukoencephalopathy.- Cerebroretinal Vasculopathies.- Syndromes with Neuro-Ophthalmologic Overlap.- Proteus Syndrome.-PHACE Syndrome.- Goldenhar Syndrome.- Oculoauriculovertebral Dysplasia).- Delleman (Oculocerebrocutaneous) Syndrome.- Encephalocraniocutaneous Lipomatosis.- Incontinentia Pigmenti (Bloch–Sulzberger Syndrome).