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Файл:Ординатура / Офтальмология / Английские материалы / Retinal and Choroidal Manifestations of Selected Systemic Diseases_Arevalo_2012.pdf
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- •Foreword
- •Preface
- •Contents
- •Contributors
- •Introduction
- •Noninfectious Retinal Manifestations
- •Cytomegalovirus Retinitis
- •Necrotizing Herpetic Retinitis (by Varicella Zoster)
- •Toxoplasmic Retinochoroiditis
- •Syphilitic Uveitis, Papillitis, and Retinitis
- •Candida Vitritis and Retinitis
- •Pneumocystis carinii Choroiditis
- •Cryptococcus neoformans Chorioretinitis
- •Mycobacterium Choroiditis
- •B-Cell Lymphoma
- •Controversies and Perspectives
- •Focal Points
- •References
- •Introduction
- •Etiologic Agent
- •Toxocara canis
- •Ancylostoma caninum
- •Baylisascaris procyonis
- •Trematodes
- •Mode of Transmission
- •Diagnosis and Pathogenesis
- •Early Stage
- •Late Stage
- •Ancillary Tests
- •Serologic Test
- •Fluorescein Angiography
- •Visual Field Studies
- •Scanning Laser Ophthalmoscopy (SLO)
- •Optic Coherence Tomography (OCT)
- •GDx® Nerve Fiber Analyzer
- •Differential Diagnosis
- •Management
- •Laser Treatment
- •Oral Treatment
- •Pars Plana Vitrectomy (PPV)
- •Controversies and Perspectives
- •Focal Points
- •References
- •Introduction
- •Epidemiology
- •Etiology and Pathogenesis
- •Systemic Manifestations
- •Clinical Intraocular Manifestations
- •Diagnosis
- •Treatment
- •Surgical Technique
- •Controversies and Perspectives
- •Focal Points
- •References
- •Introduction
- •Pathogenesis and Life Cycle
- •Clinical Manifestations
- •Epidemiology
- •Diagnosis
- •Differential Diagnosis
- •Management
- •Controversies and Perspectives
- •Focal Points
- •References
- •Introduction
- •Current Epidemiology
- •Eyelid Tuberculosis
- •Conjunctival Tuberculosis
- •Scleral Tuberculosis
- •Phlyctenulosis
- •Corneal Tuberculosis
- •Uveal Tuberculosis
- •Anterior Uveitis
- •Intermediate Uveitis
- •Posterior Uveitis (Choroidal Tuberculosis)
- •Orbital Tuberculosis
- •Retinal Tuberculosis
- •Retinal Vascular Disease
- •Tuberculous Panophthalmitis
- •Neuro-ophthalmological Aspects
- •Ocular Tuberculosis Associated with Mycobacterium bovis
- •Rare Presentations
- •Isolated Macular Edema
- •Isolated Ocular Tuberculosis
- •Intraocular Infection with Pigmented Hypopyon
- •Ocular Tuberculosis After Corticosteroid Therapy
- •Systemic Investigations
- •Ocular Investigations
- •Corticosteroid Therapy
- •Antitubercular Therapy
- •Controversies and Perspectives
- •Focal Points
- •References
- •Introduction
- •Pathogenesis
- •Clinical Manifestations
- •Epidemiology
- •Diagnosis
- •Differential Diagnosis
- •Management
- •Pyrimethamine
- •Sulfonamides
- •Folinic Acid
- •Clindamycin
- •Azithromycin
- •Trimethoprim and Sulfamethoxazole
- •Spiramycin
- •Atovaquone
- •Controversies and Perspectives
- •Focal Points
- •References
- •Introduction
- •Bartonellosis
- •Epidemiology
- •Microbiology
- •Clinical Findings in Cat Scratch Disease
- •Systemic Manifestations
- •Ocular Manifestations
- •Parinaud’s Oculoglandular Syndrome (POGS)
- •Retinal and Choroidal Manifestations and Complications
- •Neuroretinitis (Leber’s Neuroretinitis)
- •Multifocal Retinitis and Choroiditis
- •Vasculitis and Vascular Occlusion
- •Peripapillary Bacillary Angiomatosis
- •Uveitis
- •Diagnosis
- •Biopsy and Testing
- •Therapy
- •Controversies and Perspectives
- •Clinical Pearls
- •Lyme Disease
- •Diagnosis
- •Ocular Manifestations
- •Intermediate Uveitis
- •Retinal Vasculitis, Branch Retinal Artery, Retinal Vein Occlusion, and Cotton-Wool Spots
- •Neuroretinitis
- •Other Ocular Manifestations
- •Cystoid Macular Edema and Macular Pucker
- •Retinal Pigment Epithelial Detachment
- •Retinitis Pigmentosa-Like Retinopathy
- •Choroidal Neovascular Membrane
- •Acute Posterior Multifocal Placoid Pigment Epitheliopathy-Like Picture
- •Retinal Tear
- •Ciliochoroidal Detachment
- •Therapy
- •Controversies and Perspectives
- •Clinical Pearls
- •Syphilis
- •Ocular Manifestations
- •Retina and Choroid
- •Retinal Vasculature
- •Optic Disk
- •Association Between HIV and Syphilis
- •Clinical Importance of Ocular Syphilis
- •Therapy
- •Controversies and Perspectives
- •Clinical Pearls
- •References
- •Introduction
- •Acute Retinal Necrosis
- •Causative Virus
- •Epidemiology
- •Virological Diagnosis
- •Clinical Course
- •Treatment
- •Cytomegalovirus
- •Diagnosis
- •Staging and Progression
- •Laboratory Findings
- •Treatment
- •Pharmacologic
- •Surgical
- •Patient Follow-up
- •Epidemiology
- •Diagnosis
- •HIV Disease
- •HIV Therapy
- •Ocular Manifestations of HIV
- •Progressive Outer Retinal Necrosis
- •Diagnosis
- •Etiology
- •Therapy
- •Rubella
- •West Nile Virus
- •Other Systemic Illnesses
- •Controversies and Perspectives
- •What Is the Best Surgical Approach for Repair of Secondary Retinal Detachment?
- •Focal Points
- •References
- •Introduction
- •Causative Organisms
- •Candidiasis
- •Risk Factors
- •Pathogenesis
- •Clinical Features
- •Diagnosis
- •Treatment
- •Aspergillus Retinitis
- •Risk Factors
- •Pathogenesis
- •Clinical Features
- •Diagnosis
- •Treatment
- •Cryptococcal Chorioretinitis
- •Risk Factors
- •Pathogenesis
- •Clinical Features
- •Diagnosis
- •Treatment
- •Coccidioides immitis Chorioretinitis
- •Risk Factors
- •Pathogenesis
- •Clinical Features
- •Diagnosis
- •Treatment
- •Histoplasma Chorioretinitis
- •Risk Factors
- •Pathogenesis
- •Clinical Features
- •Diagnosis
- •Treatment
- •Risk Factors
- •Pathogenesis
- •Clinical Features
- •Diagnosis
- •Treatment
- •Sporothrix schenckii Chorioretinitis
- •Risk Factors
- •Pathogenesis
- •Clinical Features
- •Diagnosis
- •Treatment
- •Controversies and Perspectives
- •Focal Points
- •References
- •10: Endogenous Endophthalmitis
- •Introduction
- •Clinical Findings
- •Diagnosis
- •How to Culture
- •Polymerase Chain Reaction
- •Treatment
- •Systemic Antibiotics
- •Intravitreous Antibiotics
- •Corticosteroid Therapy
- •Vitrectomy
- •Prognosis
- •Controversies and Perspectives
- •Focal Points
- •References
- •Introduction
- •Etiology
- •Genetic Features
- •Immunopathogenesis
- •Diagnosis
- •Posterior Segment Findings
- •Management
- •Controversies and Perspectives
- •Focal Points
- •References
- •Introduction
- •Epidemiology
- •Prevalence and Incidence
- •Age of Onset
- •The Gender Factor
- •Etiopathogenesis
- •Clinical Features and Diagnosis
- •Ocular Involvement
- •Posterior Segment Involvement
- •Fluorescein Angiography
- •Indocyanine Green Angiography
- •Optical Coherence Tomography
- •Other Ocular Manifestations
- •Complications
- •Histopathology
- •Prognosis of Ocular Disease
- •Juvenile Behçet’s Disease
- •Pregnancy and Behçet’s Disease
- •Differential Diagnosis
- •Management of Ocular Disease
- •Medical Treatment
- •Colchicine
- •Corticosteroids
- •Intravitreal Triamcinolone
- •Cyclosporin A and Tacrolimus (FK506)
- •Anti-tumor Necrosis Factor Treatment
- •Cytotoxic and Other Immunosuppressive Agents
- •Tolerization Therapy
- •Laser Treatment
- •Plasmapheresis
- •Cataract Surgery
- •Trabeculectomy
- •Vitrectomy
- •Controversies and Perspectives
- •Pearls
- •References
- •13: Intraocular Lymphoma
- •Introduction
- •Historical Background
- •Epidemiology
- •Etiology
- •Imaging
- •Diagnosis and Pathology
- •Treatment
- •Controversies and Perspectives
- •Focal Points
- •Acknowledgments
- •References
- •14: Choroidal and Retinal Metastasis
- •Introduction
- •Primary Cancer Sites Leading to Intraocular Metastasis
- •Intraocular Metastasis Onset
- •Choroidal Metastases
- •Ciliary Body Metastases
- •Iris Metastases
- •Retinal Metastases
- •Optic Disk Metastases
- •Vitreous Metastases
- •Ocular Paraneoplastic Syndromes
- •Diagnostic Evaluation for Ocular Metastasis
- •Systemic Evaluation
- •Fluorescein Angiography
- •Indocyanine Green Angiography
- •Ultrasonography
- •Optical Coherence Tomography
- •Computed Tomography
- •Magnetic Resonance Imaging
- •Fine-Needle Aspiration Biopsy
- •Surgical Biopsy
- •Pathology of Ocular Metastasis
- •Observation
- •Radiotherapy
- •Surgical Excision, Enucleation
- •Patient Prognosis
- •Controversies and Perspective
- •Pearls
- •References
- •Introduction
- •CAR Cases
- •CAR Case 1: CAR Secondary to Esthesioneuroblastoma (Olfactory Neuroblastoma)
- •CAR Case 2: CAR Associated with Metastatic Breast Cancer
- •CAR Case 3: Paraneoplastic Optic Neuritis and Retinitis Associated with Small Cell Lung Cancer
- •Paraneoplastic Retinopathy: Melanoma-Associated Retinopathy (MAR)
- •MAR Case
- •Pearls
- •References
- •Introduction
- •Epidemiology
- •Pathophysiology
- •Clinical Presentation
- •Ulcerative Colitis
- •Crohn’s Disease
- •Ocular Manifestations
- •Posterior Segment Lesions
- •Treatment of Ocular Manifestations
- •Whipple’s Disease
- •Diagnosis
- •Extraintestinal Manifestations
- •Central Nervous System
- •Others
- •Treatment
- •Avitaminosis A
- •Pancreatitis
- •Familial Adenomatous Polyposis
- •Controversies and Perspectives
- •Focal Points
- •References
- •Introduction
- •Demographics
- •Genetics
- •Fundus Manifestations
- •Management
- •Demographics
- •Genetics
- •Ophthalmologic Features
- •Fundus Manifestations
- •Management
- •Demographics
- •Genetics
- •Fundus Manifestations
- •Management
- •Genetics
- •Ophthalmologic Features
- •Fundus Manifestations
- •Management
- •Genetics
- •Fundus Manifestations
- •Management
- •Genetics
- •Fundus Manifestations
- •Controversies and Perspectives
- •References
- •Pathogenesis and Laboratory Findings
- •Innate Immune System Activation
- •Increased Availability of Self-antigen and Apoptosis
- •Adaptive Immune Response
- •Damage to Target Organs
- •General Clinical Findings
- •Ocular Symptoms
- •Posterior Ocular Manifestations
- •Mild Retinopathy
- •Vaso-occlusive Retinopathy
- •Lupus Choroidopathy
- •Anterior Visual Pathway
- •Posterior Visual Pathway
- •Oculomotor System
- •Anterior Ocular Manifestations
- •Drug-Related Ocular Manifestations
- •General Management
- •Controversies and Perspectives
- •Focal Points
- •References
- •19: Vogt–Koyanagi–Harada Disease
- •Introduction
- •History
- •Epidemiology
- •Immunopathogenesis
- •Histopathology
- •Immunogenetics
- •Clinical Features
- •Extraocular Manifestations
- •Ancillary Test
- •Fluorescein Angiography (FA)
- •Indocyanine Green Angiography (ICGA)
- •Cerebrospinal Fluid Analysis (CSF)
- •Ultrasonography (USG)
- •Ultrasound Biomicroscopy (UBM)
- •Magnetic Resonance Image (MRI)
- •Electrophysiology
- •Differential Diagnosis
- •Sympathetic Ophthalmia
- •Primary Intraocular B-Cell Lymphoma
- •Posterior Scleritis
- •Uveal Effusion Syndrome
- •Sarcoidosis
- •Lyme Disease
- •Treatment
- •Complications
- •Prognosis
- •Controversies and Perspectives
- •Focal Points
- •References
- •Introduction
- •General
- •Genetics
- •Pathogenesis
- •Ocular Pathology
- •Lens
- •Retina
- •Lens Subluxation
- •Clinical Findings
- •Pathogenesis
- •Differential Diagnosis
- •Treatment
- •Retinal Detachment
- •Clinical Findings
- •Pathogenesis
- •Therapy
- •Controversies and Perspectives
- •Focal Points
- •References
- •21: Diabetic Retinopathy
- •Introduction
- •Pathogenesis
- •Risk Factors
- •Duration of Disease
- •Glucose Control
- •Blood Pressure Control
- •Lipid Control
- •Other Factors
- •Proliferative Diabetic Retinopathy
- •Advanced Eye Disease
- •Diabetic Macular Edema
- •Management
- •Glycemic Control
- •Blood Pressure Control
- •Serum Lipid Control
- •Aspirin Treatment
- •Laser Photocoagulation
- •Vitrectomy
- •Pharmacotherapy
- •Corticosteroids
- •Triamcinolone Acetonide
- •Fluocinolone Acetonide
- •Extended-Release Dexamethasone
- •Pegaptanib
- •Ranibizumab
- •Bevacizumab
- •Controversies and Perspectives
- •Focal Points
- •References
- •Introduction
- •Hypertensive Retinopathy
- •Hypertensive Choroidopathy
- •Indirect Effects
- •Controversies and Perspectives
- •Summary
- •Focal Points
- •References
- •Introduction
- •Anemia
- •Aplastic Anemia
- •Hemoglobinopathies
- •Sickle Cell Disease
- •Thalassemia
- •Deferoxamine Toxicity
- •Autoimmune Hemolytic Anemia
- •Antiphospholipid Antibody Syndrome
- •Hemophilia and Platelet Disorders
- •Myelodysplastic Disorders
- •Myeloproliferative Disorders
- •Chronic Myelogenous Leukemia
- •Polycythemia Vera
- •Essential Thrombocythemia
- •Leukemias
- •Acute Myeloid Leukemia
- •Lymphoid
- •Lymphomas
- •B Cell Lymphoma
- •Hodgkin’s Lymphoma
- •Plasma Cell Disorders
- •Plasmacytoma/Multiple Myeloma
- •Plasma Cell Leukemia
- •T Cell Lymphomas
- •Controversies/Perspectives
- •Roth Spots
- •Anti-VEGF Therapy
- •Focal Points
- •Anemia
- •Hemoglobinopathies
- •Myelodysplastic Syndrome
- •Myeloproliferative Neoplasms
- •Leukemia
- •Lymphoma
- •References
- •24: The Ocular Ischemic Syndrome
- •Introduction
- •Demography
- •Etiology
- •Symptoms
- •Loss of Vision
- •Amaurosis Fugax
- •Pain
- •Visual Acuity
- •Signs
- •External
- •Anterior Segment Changes
- •Posterior Segment Findings
- •Diagnostic Studies
- •Fluorescein Angiography
- •Electroretinography
- •Carotid Artery Imaging
- •Others
- •Systemic Associations
- •Differential Diagnosis
- •Treatment
- •Systemic Therapy: Carotid Artery
- •Ophthalmic Therapy
- •Controversies and Perspectives
- •Focal Points
- •References
- •25: Ocular Manifestations of Pregnancy
- •Introduction
- •Physiologic Changes
- •Intraocular Pressure
- •Cornea
- •Pathologic Conditions
- •Pregnancy-Induced Hypertension
- •Clinical Features
- •Ocular Manifestations
- •HELLP Syndrome
- •Management of PIH
- •Prognosis
- •Central Serous Retinopathy
- •Occlusive Vascular Disorders
- •Purtscher’s-Like Retinopathy
- •Disseminated Intravascular Coagulation (DIC)
- •Thrombotic Thrombocytopenic Purpura (TTP)
- •Amniotic Fluid Embolism
- •Preexisting Conditions
- •Diabetic Retinopathy
- •Progression
- •Factors Associated with Progression
- •Pathophysiology of Progression
- •Treatment Criteria for Diabetic Retinopathy
- •Follow-up Guidelines
- •Intraocular Tumors
- •Uveal Melanoma
- •Choroidal Osteoma
- •Choroidal Hemangioma
- •Ocular Medications
- •Topical Drops
- •Diagnostic Agents
- •Summary
- •Focal Points
- •References
- •Introduction
- •Toxicity with Diffuse Retinal Changes
- •Toxicity with Pigmentary Degeneration
- •Quinolines
- •Phenothiazines
- •Deferoxamine
- •Toxicity with Crystalline Deposits
- •Tamoxifen
- •Canthaxanthine
- •Toxicity Without Fundus Changes
- •Cardiac Glycosides
- •Phosphodiesterase Inhibitors
- •Toxicity with Retinal Edema
- •Methanol
- •Toxicity with Retinal Vascular Changes
- •Talc
- •Oral Contraceptives
- •Interferon
- •Toxicity with Maculopathy
- •Niacin
- •Sympathomimetics
- •Toxicity with Retinal Folds
- •Sulfanilamide-Like Medications
- •Summary
- •Focal Points
- •References
- •Introduction
- •Diabetes
- •Vascular Disease
- •Hypertensive Retinopathy
- •Hypertensive Optic Neuropathy
- •Thrombotic Microangiopathy
- •Dysregulation of the Alternative Complement Pathway with Renal and Ocular Fundus Changes
- •Papillorenal Syndrome
- •Ciliopathies
- •Senior-Loken Syndrome and Related Syndromes with Nephronophthisis
- •Other Rare Metabolic Diseases
- •Congenital Disorders of Glycosylation (CDG)
- •Cystinosis
- •Fabry Disease
- •Peroxisomal Diseases: Refsum Disease
- •Neoplastic Diseases with Kidney and Ocular Involvement
- •von Hippel-Lindau Disease
- •Light Chain Deposition Disease
- •Controversies and Perspectives
- •Focal Points
- •References
- •Index
Retinal Detachment and Lens |
20 |
Subluxation in Marfan Syndrome |
Dinah Zur and Anat Loewenstein
Abstract
Marfan syndrome is an autosomal dominant inherited disorder of connective tissue. During the last two decades, the major role of mutation of the gene fibrillin 1 was shown. Ocular involvement in Marfan syndrome is very common, and in 41% of Marfan patients, ocular pathology is the presenting symptom. This chapter will detail the two main ocular features: ectopia lentis and retinal detachment—the most common and serious sight-endangering complications of the syndrome. Parallel to improved life expectancy of Marfan patients, the introduction of modern operative instruments changed the surgical approach and significantly improved operative results.
Keywords
Dislocated lens • Fibrillin • High myopia • Marfan syndrome • Retinal detachment
Introduction
The first description of the Marfan syndrome was probably given by E. Williams, an ophthalmologist, in 1875 [1]. He described two families who
D. Zur, M.D. ( )
Department of Ophthalmology, Tel Aviv Medical Center, Weizman Street 6, Tel Aviv 64239, Israel
e-mail: dinahzur@gmail.com
A. Loewenstein, M.D., M.H.A.
Department of Ophthalmology, Tel Aviv Medical Center, Sackler Faculty of Medicine, Tel Aviv University,
6 Weitzman Street, Tel Aviv 64349, Israel e-mail: anatlow@netvision.net.il; anatlow@tasmc.health.gov.il
presented with dislocated lens and pupil, retinal detachment, and generalized loose-jointedness. In 1896, Marfan, a French pediatrician, reported on a 5-year-old child with long, thin extremities [2]. After being named “dolichostenomelia” and “arachnodactyly,” the name Marfan syndrome was coined only in 1931 [3]. In 1943, cardiovascular abnormalities were recognized as part of the syndrome with aortic dilatation, dissecting aortic aneurysm, and floppy mitral valve as major complications [4, 5]. In 1990, the role of fibrillin in the pathogenesis was demonstrated [6].
Marfan syndrome is the second most common inherited connective tissue disorder after osteogenesis imperfecta [7]. Its incidence is estimated between 1 in 5,000 and 1 in 20,000, but the
J.F. Arévalo (ed.), Retinal and Choroidal Manifestations of Selected Systemic Diseases, |
377 |
DOI 10.1007/978-1-4614-3646-1_20, © Springer Science+Business Media New York 2013 |
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