1.1 Idiopathic Optic Neuritis Clinically Isolated Syndrome Clinical Features. 1.2 Natural History of Acute

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1 Contents Part I Optic Nerve Chapter 1 Optic Neuritis and Multiple Sclerosis Edward J. Atkins, Valérie Biousse, Nancy J. Newman 1.1 Idiopathic Optic Neuritis Clinically Isolated Syndrome Clinical Features of Acute Idiopathic Optic Neuritis Examination Findings in Acute Idiopathic Optic Neuritis Natural History of Acute Idiopathic Optic Neuritis Important Studies Visual Prognosis Risk of Recurrence of Optic Neuritis Risk of Developing Multiple Sclerosis Severity of Multiple Sclerosis in Patients Presenting with Optic Neuritis Management of Acute Idiopathic Optic Neuritis Diagnosis Acute Therapeutic Options Chronic Therapeutic Options Pediatric Optic Neuritis Chapter 2 Ischemic Optic Neuropathies Anthony C. Arnold 2.1 Introduction Anterior Ischemic Optic Neuropathy Arteritic Anterior Ischemic Optic Neuropathy Clinical Presentation Pathophysiology Differential Diagnosis Clinical Course Diagnostic Confirmation Therapy Nonarteritic Anterior Ischemic Optic Neuropathy (NAION) Clinical Presentation Pathophysiology Risk Factors Medications Clinical Course Differential Diagnosis Therapy Prevention Posterior Ischemic Optic Neuropathy Chapter 3 Optic Disc Drusen François-Xavier Borruat 3.1 Introduction Epidemiology Pathology Optic Canal Size Associations Inherited Retinal Degenerations Angioid Streaks and Pseudoxanthoma Elasticum Miscellaneous Paraclinical Investigations B-Scan Ultrasound Scanning Laser Ophthalmoscope Optical Coherence Tomography Scanning Laser Polarimetry Electrophysiology

2 Contents Retinal Angiography Complications Visual Field Defects Retinal Vascular Complications Peripapillary Choroidal Neovascularization Anterior Ischemic Optic Neuropathy Therapy Chapter 4 Inherited Optic Neuropathies Marcela Votruba 4.1 Introduction Primary Inherited Optic Neuropathies with Ocular Manifestations Autosomal-Dominant Optic Atrophy Clinical Features Electrophysiology Histopathology Molecular Genetics and the Genetic Heterogeneity of ADOA OPA4 Locus OPA3 Locus: Autosomal- Dominant Optic Atrophy and Cataract (ADOAC) Recessive Optic Atrophy Clinical Features OPA5 Locus X-Linked Optic Atrophy Clinical Features OPA2 Locus Mitochondrial Disease: Leber s Hereditary Optic Neuropathy Clinical Features Findings in Unaffected Relatives Systemic Manifestations Molecular Genetics LHON-Associated Mitochondrial Mutations Genotype Phenotype Correlation Evidence for an X-Linked Susceptibility Factor The Pathophysiology of LHON Primary Inherited Optic Neuropathies with Significant Systemic Features Autosomal-Dominant Optic Atrophy and Neurological Defects Autosomal-Recessive Optic Atrophy Plus Costeff s Syndrome Behr s Syndrome Wolfram Syndrome, DIDMOAD Conclusions Chapter 5 Optic Nerve Tumours Tim D. Matthews 5.1 Introduction Gliomas NF Meningiomas Retino-Choroidal Collaterals Imaging Gliomas Typical Masquerade Meningiomas Typical Masquerade Management Gliomas Paediatric Adult Meningiomas Conclusions Chapter 6 Traumatic Optic Neuropathy: Recommendations and Neuroprotection Solon Thanos, Stephan Grewe, Tobias Stupp 6.1 Introduction Optic Nerve Anatomy Traumatic Optic Neuropathy

3 Contents XI 6.2 Review of Previous Studies on TONs Histopathology of TON Mechanisms of TON- Induced Ganglion Cell Death Diagnosis of TON Therapeutic Concepts of TON Steroids Neuroprotection Surgical Decompression The Role of Ophthalmologists Outlook on Regeneration of the Optic Nerve Current Clinical Practice and Recommendations Part II Investigations Chapter 7 Imaging the Nerve Fiber Layer and Optic Disc Marc Dinkin, Michelle Banks, Joseph F. Rizzo III 7.1 Introduction Overview of Early Imaging Techniques Optic Nerve Head Drawings Direct Ophthalmoscopy of the Nerve Fiber Layer Retinal Nerve Fiber Layer Photography Stereoscopic Optic Nerve Head Photography Optic Nerve Head Analyzers The Topcon IMAGEnet The Humphrey Retinal Analyzer The Rodenstock Optic Nerve Head Analyzer The Glaucoma-Scope Modern Techniques for Optic Nerve and Retinal Nerve Fiber Layer Imaging Scanning Laser Ophthalmoscopy and Tomography The Rodenstock System The Heidelberg Laser Tomographic Scanner The Zeiss Confocal Scanning Laser Ophthalmoscope and TopSS Topographic Scanning System The Heidelberg Retinal Tomograph II Scanning Laser Polarimetry ( GDx ) Optical Coherence Tomography Using OCT for Glaucoma Evaluation Other Uses of OCT Ultrahigh-Resolution OCT (UHR-OCT) Imaging of the Optic Nerve and Alzheimer Disease Comparing Modalities MRI Conclusion Chapter 8 Functional Neuroanatomy of the Human Visual System: A Review of Functional MRI Studies Mark W. Greenlee, Peter U. Tse 8.1 Introduction Imaging the Lateral Geniculate Nucleus Functional Maps of the Visual Field Striate and Extrastriate Visual Areas in Human Visual Cortex (V1, V2, V3) Receptive Field Size as a Function of Retinal Eccentricity Alternative Methods of Retinotopic Mapping Columnar Structures within Human V Orientation Specificity of BOLD Responses in Visual Cortex

4 XII Contents 8.9 Visual Maps of Higher Visual Function: V Visual Maps of Higher Visual Function: V3A, V3B and KO Segmenting Extrastriate Areas and MT+ into Functional Subregions Responses to Optic Flow Disparity and Motion-in- Depth Stimulation Interface Between Visual and Oculomotor Systems Parietal Lobe Maps of Visuotopic Space Working Memory for Visual Stimuli Role of V1 in Visual Consciousness Summary Chapter 9 Investigating Visual Function with Multifocal Visual Evoked Potentials Michael B. Hoffmann 9.1 Introduction Multifocal Principle and Characteristics of Multifocal VEPs Basics Multifocal Stimulation, Firstand Second-Order Kernels Stimulus Display for mfvep Recordings Recording mfveps and Practical Considerations Dependence of mfveps on Visual Cortex Morphology Assessment of mfveps Response Magnitude Response Latency mfvep Investigations of Diseases mfvep in Glaucoma mfvep in Optic Neuritis mfvep in Albinism Conclusion Part III Retinal Disorders Chapter 10 Autoimmune Retinopathies Jennifer K. Hall, Nicholas J. Volpe 10.1 Autoimmune Disease Overview Autoimmune Retinopathy Overview Paraneoplastic Retinopathies Cancer-Associated Retinopathy Clinical Presentation Diagnostic Studies Pathophysiology Treatment Melanoma-Associated Retinopathy Clinical Presentation Diagnostic Studies Pathophysiology Treatment Bilateral Diffuse Uveal Melanocytic Proliferation Clinical Presentation Diagnostic Studies Pathophysiology Treatment Autoimmune- Related Retinopathy and Optic Neuropathy Acute Outer Retinopathies with Blind Spot Enlargement Acute Idiopathic Blind Spot Enlargement Clinical Presentation Diagnostic Studies Pathophysiology Treatment Multiple Evanescent White Dot Syndrome Clinical Presentation Diagnostic Studies Pathophysiology Treatment Acute Zonal Occult Outer Retinopathy

5 Contents XIII Clinical Presentation Diagnostic Studies Pathophysiology Treatment AZOOR Complex of Disease Summary Chapter 11 Retinal Research: Application to Clinical Practice Ludwig Aigner, Claudia Karl 11.1 Introduction Retinitis Pigmentosa Age-Related Macular Degeneration Glaucoma Cell Death in the Retina Major Characteristics and Pathways of Apoptosis Caspase-Dependent Apoptosis Caspase-Independent Apoptosis Therapeutic Strategies in Degenerative Retinal Diseases Strategies for Neuroprotection Animal Models in Retinal Degeneration Research Strategies for Neuroprotection Interfering with the Induction Phase of Apoptosis Strategies for Neuroprotection Interfering with the Early Phase of Apoptosis Strategies Using Neuroprotective Cytokines that Showed Effects in Other Tissues Cell Therapy for the Diseased Retina Cell Transplantation in the Retina Application of Transgenes or Genetically Engineered Stem and Progenitor Cells Endogenous Cell Replacement in the Retina 199 Part IV Systemic disease Chapter 12 Chorioretinal Lesions in Infectious Diseases of Neuroophthalmic Interest Yan Guex-Crosier 12.1 Introduction Ocular Zoonosis Ocular Toxoplasmosis Congenital Toxoplasmosis Reactivation of Toxoplasmosis in Immunocompetent Patients Ophthalmic Toxoplasmosis in AIDS Patients Neurologic Manifestation of Toxoplasmosis in AIDS Patients Radiologic Manifestation of Toxoplasmosis in AIDS Toxocariasis Introduction Ocular Manifestations Neurologic Manifestations Diseases Transmitted by Ticks Introduction Tick-Borne Encephalitis Lyme Disease Cat Scratch Disease Introduction Ocular and Neuroophthalmologic Manifestations Neurologic Manifestations Therapy Sexually Transmitted Diseases Syphilis Introduction Ocular and Neuroophthalmologic Manifestations Diagnostic Tests

6 XIV Contents Therapy Human Immunodeficiency Virus (HIV) and Ocular Infection Introduction HIV Retinopathy CMV Retinitis Encephalopathies Due to Viral and Non- Conventional Agents Lymphocytic Choriomeningitis Virus Creutzfeldt Jakob Disease JC Virus and Progressive Multifocal Leukoencephalopathy Herpetic Encephalopathy and Acute Retinal Necrosis Syndrome Conclusion Chapter 13 Giant Cell Arteritis Aki Kawasaki 13.1 Pathophysiology of Giant Cell Arteritis Epidemiology Triggering Event Tropism to Certain Vascular Beds Macrophage Recruitment and Vascular Injury Systemic Inflammation Clinical (Non-Ophthalmic) Manifestations of GCA Natural History Systemic Signs and Symptoms Headache and Craniofacial Pain Auditory Manifestations Neurologic Manifestations Occult GCA Visual Manifestations of GCA Transient Visual Loss Anterior Ischemic Optic Neuropathy Other Types of Ischemic Visual Loss Diplopia Orbital Manifestations Clinical Subtypes of GCA Systemic Inflammatory Syndrome Cranial Arteritis Large-Vessel Vasculitis Laboratory Investigations in GCA Erythrocyte Sedimentation Rate C-Reactive Protein Thrombocytosis Interleukin-6 and Other Cytokines Anemia Others Diagnosis of GCA Temporal Artery Biopsy American College of Rheumatology Criteria Role of Ultrasound Other Non-Invasive Imaging of the Cranial Arteries Treatment and Prognosis of GCA Corticosteroids Starting Dose Maintenance Dose Tapering Regimen Duration of Treatment Visual Outcome on Corticosteroids Methotrexate Other Adjuvant Therapies Treatment of Large-Vessel Involvement Part V Oculomotility Chapter 14 Cerebral Control of Eye Movements Charles Pierrot-Deseilligny 14.1 Introduction Brainstem

7 Contents XV Horizontal Eye Movements Final Common Pathway Premotor Structures and Afferent Pathways Vertical Eye Movements Final Common Pathway Premotor Structures and Brainstem Afferents Suprareticular Structures Cerebellum Cerebral Hemispheres Abnormal Eye Movements Nystagmus Non-Nystagmic Abnormal Eye Movements Chapter 15 Chronic Progressive External Ophthalmoplegia A Common Ocular Manifestation of Mitochondrial Disorders Marcus Deschauer, Stephan Zierz 15.1 Introduction Clinical Features Ophthalmoplegia and Ptosis CPEO Plus: Multisystemic Involvement Muscle Impairment Visual Impairment Specific CPEO Plus Syndromes Genetics General Mitochondrial Genetics Single Deletions of mtdna Defects of Intergenomic Communication with Multiple Deletions of mtdna Point Mutations of mtdna Coenzyme Q Deficiency Genotype Phenotype Correlation Diagnostics Myohistological Investigations Biochemical Investigations Molecular Genetic Investigations Treatment Pharmacological Therapy Symptomatic Treatment Gene Therapy Differential Diagnosis Oculopharygeal Muscular Dystrophy Myasthenic Syndromes Congenital Fibrosis of the Extraocular Muscles Ocular Myositis Endocrine Ophthalmopathy Myotonic Dystrophy Facioscapulohumeral Muscular Dystrophy Congenital Myopathies Chapter 16 Treatment of Specific Types of Nystagmus Marianne Dieterich 16.1 Introduction Peripheral Vestibular and Ocular Motor Disorders Acute Peripheral Vestibulopathy, Vestibular Neuritis Etiology Therapeutic Recommendations Superior Oblique Myokymia Etiology Therapeutic Recommendations Supranuclear Ocular Motor Disorders Central Vestibular Disorders Vestibular Syndromes in the Sagittal (Pitch) Plane Central Ocular Motor Disorders Acquired Pendular Nystagmus Opsoclonus and Ocular Flutter

8 XVI Contents Part VI Rehabilitation Chapter 17 Rehabilitation in Neuroophthalmology Susanne Trauzettel-Klosinski 17.1 Introduction Psychophysics of Normal Reading Diseases of the Visual Pathways and their Functional Deficits Optic Neuropathies Central Scotomas Arcuate Scotomas: Nerve Fiber Bundle Defects Ring Scotomas Constricted Fields The Impact of Visual Field Defects on Reading Performance Optic Chiasmal Syndromes Suprachiasmatic Lesions of the Visual Pathways Hemianopic Reading Disorder Hemianopic Orientation Disorder Cortical Visual Impairment Diagnostic Procedures to Examine Reading Ability Rehabilitation Programs Visual Aids in Reading Disorders Visual and Other Aids in Spatial Orientation Problems Training Training for Patients with Circumscribed Scotomas in the Central Field Training for Patients with Homonymous Field Defects Counseling Regarding Public Support Summary and Conclusions 316 Subject Index

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