Ординатура / Офтальмология / Английские материалы / Essentials in Ophthalmology Pediatric Ophthalmology Neuro-Ophthalmology Genetics_Lorenz, Borruat_2008

Essentials in Ophthalmology

G. K. Krieglstein  R. N. Weinreb

Series Editors

Glaucoma

Cataract and Refractive Surgery

Uveitis and Immunological Disorders

Vitreo-retinal Surgery

Medical Retina

Oculoplastics and Orbit

Pediatric Ophthalmology,

Neuro-Ophthalmology, Genetics

Cornea and External Eye Disease

Library of Congress Control Number: 2007936032

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The series Essentials in Ophthalmology was initiated two years ago to expedite the timely transfer of new information in vision science and evidence-based medicine into clinical practice. We thought that this prospicient idea would be moved and guided by a resolute commitment to excellence. It is reasonable to now update our readers with what has been achieved.

The immediate goal was to transfer information through a high quality quarterly publication in which ophthalmology would be represented by eight subspecialties. In this regard, each issue has had a subspecialty theme and has been overseen by two internationally recognized volume editors, who in turn have invited a bevy of experts

to discuss clinically relevant and appropriate topics. Summaries of clinically relevant information have been provided throughout each chapter.

Each subspecialty area now has been covered once, and the response to the first eight volumes in the series has been enthusiastically positive. With the start of the second cycle of subspecialty coverage, the dissemination of practical information will be continued as we learn more about the emerging advances in various ophthalmic subspecialties that can be applied to obtain the best possible care of our patients. Moreover, we will continue to highlight clinically relevant information and maintain our commitment to excellence.

G. K. Krieglstein

R. N. Weinreb

Series Editors

Neuroophthalmology is one of the most interdisciplinary domains of ophthalmology. It encompasses disorders of both the afferent and efferent pathways whose etiologies may be genetic or acquired, e.g., metabolic, vascular, inflammatory, infectious, tumoral or paraneoplastic. The aim of this monograph is to present the most modern concepts for diagnosing and treating some of these disorders.

We selected topics of particular interest due to the advent of recent diagnostic or therapeutic advances but this list is by no means exhaustive: textbooks in neuroophthalmology usually consist of several volumes! In line with the focus of this series of monographs we have included chapters of immediate clinical relevance as well as sci- ence-oriented chapters in order to also provide the reader with some insight into basic research areas that eventually will have an impact on clinical neuroophthalmology.

The volume is organised in six sections: optic nerve; investigations; retinal disorders; systemic diseases; oculomotility; and rehabilitation.

Part I, Optic nerve, discusses optic neuritis and multiple sclerosis, ischemic neuropathies, optic disc drusen, autosomal-dominant optic neuropathy, Leber hereditary optic neuropathy (LHON), optic nerve tumors, and traumatic optic neuropathy including treatment recommendations and experimental data on neuroprotection.

Part II, Investigations, describes and critically evaluates the most recent methods of imaging and electrophysiology of the optic nerve and the central visual pathways.

Part III, Retinal disorders, provides an overview on autoimmune retinopathies and on the basic aspects of cell death as well as on actual and future issues of cell protection and cell rescue.

Part IV, Systemic diseases, covers various aspects of infectious diseases from the retina to the brain, including differential diagnosis and treatment and the latest recommendations in diagnosis and management of giant cell arteritis.

Part V, Oculomotility, covers the cerebral control of eye movements, mitochondrial diseases causing ocular myopathy, and therapeutic options for specific types of neurological nystagmus.

Finally, Part VI, Rehabilitation, summarizes the potentials and limitations of visual rehabilitation in neuroophthalmological disorders.

All chapters are written by leading authorities in their field. We are grateful to the authors for their excellent contributions and also to the publishers for their encouragement and support.

Birgit Lorenz

François-Xavier Borruat

Part I  Optic Nerve

Chapter 1

Optic Neuritis and Multiple Sclerosis

Edward J. Atkins, Valérie Biousse,

Nancy J. Newman

1.1Idiopathic Optic Neuritis  . . .   4

1.1.2Clinical Features

of Acute Idiopathic Optic Neuritis  . . . . . . . . . .   4

1.1.3Examination Findings

in Acute Idiopathic Optic

Neuritis  . . . . . . . . . .   4

1.2Natural History of Acute Idiopathic Optic Neuritis  . . .   4

1.2.3Risk of Recurrence of Optic Neuritis  . . . . . . . . . .   5

1.2.4Risk of Developing Multiple Sclerosis  . . . . . . . . . .   5

1.2.5Severity of Multiple Sclerosis in Patients Presenting

with Optic Neuritis  . . . . .  10

1.3Management of Acute

Idiopathic Optic Neuritis  . .   10

1.3.1Diagnosis  . . . . . . . . .  11

1.3.3Chronic Therapeutic Options    13

1.4Pediatric Optic Neuritis  . . .  14

Chapter 2

Ischemic Optic Neuropathies

Anthony C. Arnold

2.1Introduction  . . . . . . . .  19

2.2Anterior Ischemic Optic Neuropathy  . . . . . . . .  20

2.2.1Arteritic Anterior Ischemic

Optic Neuropathy  . . . . .   20

2.2.1.4Clinical Course  . . . . . . .  23

2.2.1.5 Diagnostic Confirmation  . .  23

2.2.1.6Therapy  . . . . . . . . . .  24

2.2.2Nonarteritic Anterior Ischemic Optic Neuropathy

2.2.2.2Pathophysiology  . . . . . .  26

2.2.2.3Risk Factors  . . . . . . . .   27

2.2.2.4Medications   . . . . . . .   29

2.2.2.5Clinical Course  . . . . . . .  30

2.2.2.6 Differential Diagnosis  . . .   30

2.2.2.7Therapy  . . . . . . . . . .  31

2.2.2.8Prevention  . . . . . . . .   31

2.3Posterior Ischemic Optic Neuropathy  . . . . . . . .  32

Chapter 3

Optic Disc Drusen

François-Xavier Borruat

3.1Introduction  . . . . . . . .  37

3.2Epidemiology  . . . . . . .  37

3.3Pathology  . . . . . . . . .  38

3.5Associations  . . . . . . . .  40

3.5.1Inherited Retinal

Degenerations  . . . . . . .  40

3.5.2Angioid Streaks

and Pseudoxanthoma

Elasticum  . . . . . . . . .  40

3.5.3Miscellaneous  . . . . . . .  40

3.6.2Scanning Laser Ophthalmoscope  . . . . .   41

3.6.3Optical Coherence

Tomography   . . . . . . .   43

3.7Complications  . . . . . . .  44

3.7.2Retinal Vascular

Complications  . . . . . . .  46

3.7.3Peripapillary Choroidal Neovascularization  . . . . .  46

3.7.4Anterior Ischemic Optic Neuropathy  . . . . . . . .  46

3.8Therapy   . . . . . . . . .   46

Chapter 4

Inherited Optic Neuropathies

Marcela Votruba

4.1Introduction  . . . . . . . .  51

4.2Primary Inherited Optic Neuropathies with Ocular

Manifestations  . . . . . . .  52

4.2.1Autosomal-Dominant Optic Atrophy   . . . . . . . . .   52

4.2.1.1 Clinical Features  . . . . . .  52

4.2.1.2Electrophysiology  . . . . .   55

4.2.1.3Histopathology  . . . . . .   55

4.2.1.4Molecular Genetics

and the Genetic

Heterogeneity of ADOA  . .   55

4.2.1.5OPA4 Locus  . . . . . . . .  58

4.2.1.6OPA3 Locus: AutosomalDominant Optic Atrophy

and Cataract (ADOAC)  . . .   58

4.2.2Recessive Optic Atrophy  . .   58

4.2.2.1 Clinical Features  . . . . . .  58

4.2.2.2OPA5 Locus  . . . . . . . .  59

4.2.3.2OPA2 Locus  . . . . . . . .  59

4.2.4Mitochondrial Disease: Leber’s Hereditary Optic

4.2.4.2Findings in Unaffected

Relatives  . . . . . . . . .   60

4.2.4.3Systemic Manifestations  . .   60

4.2.4.4 Molecular Genetics  . . . .   61

4.2.4.5LHON-Associated

Mitochondrial Mutations  . .  62

4.2.4.6Genotype–Phenotype Correlation  . . . . . . . .   62

4.2.4.7Evidence for an X-Linked

Susceptibility Factor  . . . .  63

4.2.4.8The Pathophysiology

of LHON  . . . . . . . . . .  63

4.3Primary Inherited Optic Neuropathies with Significant Systemic

Features  . . . . . . . . . .  64

4.3.1Autosomal-Dominant Optic Atrophy and Neurological Defects  . . . . . . . . . .  64

4.3.2Autosomal-Recessive Optic Atrophy “Plus”  . . . . . . .  64

4.3.4Behr’s Syndrome  . . . . . .  64

4.3.5Wolfram Syndrome,

DIDMOAD  . . . . . . . . .  64

4.4Conclusions  . . . . . . . .  65

Chapter 5

Optic Nerve Tumours

Tim D. Matthews

5.1Introduction  . . . . . . . .  69

5.1.1Gliomas  . . . . . . . . . .  69

5.1.1.1NF1  . . . . . . . . . . . .  71

5.1.2Meningiomas  . . . . . . .   71

5.1.2.1Retino-Choroidal Collaterals    72

5.2Imaging  . . . . . . . . . .  74

5.2.1Gliomas  . . . . . . . . . .  74

5.2.1.1Typical  . . . . . . . . . .   74

5.2.1.2Masquerade  . . . . . . . .  74

5.2.2Meningiomas  . . . . . . .   75

5.2.2.1Typical  . . . . . . . . . .   75

5.2.2.2Masquerade  . . . . . . . .  76

5.3Management  . . . . . . .   76

5.3.1Gliomas  . . . . . . . . . .  76

5.3.1.1Paediatric  . . . . . . . . .  77

5.3.1.2Adult  . . . . . . . . . . .  78

5.3.2Meningiomas  . . . . . . .   79

5.4Conclusions  . . . . . . . .  80

Chapter 6

Traumatic Optic Neuropathy:

Recommendations

and Neuroprotection

Solon Thanos, Stephan Grewe,

Tobias Stupp

6.1Introduction  . . . . . . . .  83

6.1.2Traumatic Optic

Neuropathy   . . . . . . . .  84

6.2Review of Previous Studies

6.4Mechanisms of TON-

Induced Ganglion Cell Death    89

6.6Therapeutic Concepts

of TON  . . . . . . . . . .   91

6.6.1Steroids  . . . . . . . . . .  91

6.6.2Neuroprotection  . . . . . .  91

6.6.3Surgical Decompression  . .   91

6.6.4The Role of

Ophthalmologists  . . . . .   91

6.7Outlook on Regeneration

of the Optic Nerve  . . . . .  92

6.8Current Clinical Practice

and Recommendations  . . .  93

Part II  Investigations

Chapter 7

Imaging the Nerve Fiber

Layer and Optic Disc

Marc Dinkin, Michelle Banks,

Joseph F. Rizzo III

7.1Introduction  . . . . . . .   100

7.2Overview of Early Imaging Techniques  . . . . . . . .  100

7.2.1Optic Nerve Head

Drawings  . . . . . . . . .  100

7.2.2Direct Ophthalmoscopy

of the Nerve Fiber Layer  . .  100

7.2.3Retinal Nerve Fiber Layer Photography  . . . . . . .  100

7.2.4Stereoscopic Optic Nerve

Head Photography  . . . .   101

7.2.5Optic Nerve Head

Analyzers  . . . . . . . .   102

7.2.5.1 The Topcon IMAGEnet   . .   102

7.2.5.2The Humphrey Retinal

Analyzer  . . . . . . . . .  102

7.2.5.3The Rodenstock Optic Nerve Head Analyzer  . . . . . .   102

7.2.5.4 The Glaucoma-Scope  . . .  103

7.3Modern Techniques for Optic Nerve

and Retinal Nerve Fiber

Layer Imaging   . . . . . .   103

7.3.1.2The Heidelberg Laser Tomographic Scanner  . . .  105

7.3.1.3The Zeiss Confocal Scanning Laser Ophthalmoscope

and TopSS™ Topographic Scanning System  . . . . .  106

7.3.2The Heidelberg Retinal Tomograph II  . . . . . . .  106

7.3.3Scanning Laser Polarimetry (“GDx”)  . . . . . . . . . .  107

7.3.4Optical Coherence

Tomography  . . . . . . .   109

7.3.4.1Using OCT for Glaucoma Evaluation  . . . . . . . .   111

7.3.4.2 Other Uses of OCT  . . . .   111

7.3.4.3Ultrahigh-Resolution OCT (UHR-OCT)  . . . . . . . .  112

7.4Imaging of the Optic Nerve

and Alzheimer Disease  . .   113

7.5Comparing Modalities  . . .  113

7.5.1MRI   . . . . . . . . . . .  114

7.6Conclusion  . . . . . . . .  115

Chapter 8

Functional Neuroanatomy

of the Human Visual System:

A Review of Functional MRI Studies

Mark W. Greenlee, Peter U. Tse

8.1Introduction  . . . . . . .   119

8.2Imaging the Lateral

Geniculate Nucleus  . . . .  121

8.3Functional Maps of the

Visual Field  . . . . . . . .  121

8.4Striate and Extrastriate Visual Areas in Human Visual

Cortex (V1, V2, V3)  . . . .   121

8.5Receptive Field Size

as a Function of Retinal Eccentricity  . . . . . . . .  122

8.6Alternative Methods

of Retinotopic Mapping  . .  124

8.7Columnar Structures within Human V1  . . . . . . . .   125

8.8Orientation Specificity

of BOLD Responses in Visual Cortex  . . . . . . . . . .  125