Name: Inherited Eye Diseases: Diagnosis and Management
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ISBN: 9781574448399

Greatly expanded to include all the new developments in the field of genetics and ophthalmology, this reference contains new chapters on molecular genetics, thrombophilia, and genetically triggered retinal vascular diseases, among others. In addition, many new subchapters have been incorporated into the Second Edition, as well as current research by leaders in the field.

Saul Merin is Permanent Chief Ophthalmologist, Hadassah University Hospital, Jerusalem, Israel; Professor of Ophthalmology, Hebrew University of Jerusalem, Israel; and Visiting Professor of Ophthalmology, University of Illinois, Chicago

Preface to Second Edition

v

Foreword to First Edition

vii

Morton F. Goldberg

Preface to First Edition

ix

Introduction: The Changing Place of Genetics in Clinical Ophthalmology

1

(6)

Molecular Genetics

1

(1)

The Human Genome Project

2

(1)

Genes, Genotypes and Phenotypes

2

(1)

Ocular Gene Therapy

3

(1)

Genetic Counseling and Prenatal Diagnosis

4

(1)

Ethics of Genetic Eye Diseases

4

(1)

References

5

(2)

The Basics of Genetics

7

(14)

Monogenic Inheritance

7

(5)

Digenic Inheritance

12

(1)

Unusual Patterns of Inheritance

13

(1)

Multifactorial Inheritance

14

(1)

Chromosomal Inheritance

15

(1)

Mitochondrial Inheritance

16

(1)

Diagnostic Tests in Genetic Diseases of the Eyes

16

(3)

References

19

(2)

Introduction to Human Molecular Genetics

21

(8)

Introduction to Molecular Biology

21

(2)

DNA Mutations

23

(1)

Identification of Disease-Causing Genes

24

(3)

References

27

(2)

Cornea

29

(72)

Introduction

29

(1)

Corneal Dystrophies Affecting the Anterior Limiting Membranes

30

(8)

Chromosome 5q31 Associated Corneal Dystrophies

38

(15)

Autosomal Recessive Corneal Dystrophies Primarily Affecting the Stroma

53

(7)

Meretoja-Type Amyloidosis and the Gelsolin Gene

60

(1)

Central Crystalline Dystrophy

61

(2)

Other Corneal Dystrophies Primarily Affecting the Stroma

63

(5)

Corneal Dystrophies Primarily Affecting the Posterior Limiting Membrane

68

(9)

Disorders Involving Corneal Thinning and Size

77

(3)

Other Inherited Corneal Abnormalities

80

(1)

Corneal Disorders Associated with Systemic Diseases or Syndromes

81

(3)

References

84

(17)

The Iris

101

(24)

Introduction

101

(1)

Aniridia and PAX6 Gene Mutations

101

(9)

Axenfeld--Rieger Syndromes

110

(5)

Iris Cysts

115

(1)

Congenital Miosis (Microcoria)

115

(1)

Iris Color

116

(1)

Various Iris Anomalies

116

(1)

Iritis and Other Uveitis

117

(1)

References

118

(7)

Inherited Cataracts

125

(42)

Introduction

125

(1)

Isolated Congenital Cataracts

126

(13)

Congenital Cataracts Associated with Multisystem Diseases

139

(5)

Infantile Cataracts with Inborn Errors of Metabolism

144

(4)

Juvenile, Presenile, and Senile Cataracts

148

(6)

References

154

(13)

Inherited Anomalies of the Crystalline Lens

167

(24)

Introduction

167

(1)

Ectopia Lentis in Systemic and Multisystem Diseases

167

(13)

Ectopia Lentis as an Isolated Ocular Disorder

180

(2)

Anterior Lenticonus and Alport Syndrome

182

(2)

Posterior Lenticonus

184

(1)

Microspherophakia

184

(1)

Aphakia

185

(1)

References

185

(6)

Inherited Macular Diseases

191

(60)

Introduction

191

(1)

Stargardt Disease and Fundus Flavimaculatus

192

(16)

BVMD and the VMD2 Gene

208

(10)

The Pattern Dystrophies of the Pigment Epithelium

218

(7)

Dominant Drusen and the EFEMP1 Gene

225

(4)

Sorsby Fundus Dystrophy and the TIMP3 Gene

229

(1)

North Carolina Macular Dystrophy

230

(3)

Other Inherited Macular Diseases

233

(4)

Age Related Macular Degeneration

237

(1)

References

238

(13)

The Cone Dystrophies and Color Vision Disorders

251

(32)

Introduction

251

(1)

The Cone Dystrophies

251

(18)

The Congenital Dyschromatopsias

269

(5)

References

274

(9)

Isolated (Non-Syndromic) Retinitis Pigmentosa

283

(76)

Introduction

283

(1)

Isolated Retinitis Pigmentosa

284

(6)

Autosomal Dominant Non-Syndromic RP

290

(10)

Autosomal Dominant Sector Retinitis Pigmentosa

300

(1)

Autosomal Recessive Retinitis Pigmentosa

300

(6)

X-Chromosome Linked RP

306

(5)

Diagnostic Tests and Other Aspects of Isolated Retinitis Pigmentosa

311

(22)

References

333

(26)

Syndromic Retinitis Pigmentosa

359

(38)

Introduction

359

(1)

Leber Congenital Amaurosis

359

(5)

Usher Syndrome

364

(5)

Bardet--Biedl Syndrome

369

(5)

Retinitis Pigmentosa Associated with Other Disorders

374

(10)

References

384

(13)

Vitreous and Hyaloideoretinal Degeneration

397

(34)

Introduction

397

(1)

Vitreoretinal Nonsyndromic Degeneration as an Isolated Disorder

397

(18)

Inherited Vitreoretinal Degenerations Associated with a Generalized Disease (Syndromic Vitreoretinal Degenerations)

415

(6)

Other Inherited Abnormalities of the Vitreous

421

(1)

References

422

(9)

Other Inherited Retinal Diseases

431

(36)

Introduction

431

(1)

X-Linked Juvenile Retinoschisis

431

(6)

Familial Retinal Detachment

437

(1)

Norrie Disease and Allied Disorders (Pseudoglioma)

438

(6)

Inherited Retinal Vascular Abnormalities

444

(2)

Inherited Thrombophilia

446

(4)

Flecked Retina

450

(1)

Pigmented Paravenous Retinochoroidal Atrophy

451

(1)

Congenital Hypertrophy of the Retinal Pigment Epithelium

451

(2)

Angioid Streaks

453

(1)

Chorioretinal Degenerations with Central Nervous System Anomalies

454

(1)

Pigmentary Retinopathy Associated with the Enhanced S--Cone Syndrome (ESCS)

455

(1)

References

456

(11)

Inherited Diseases Involving the Choroid

467

(26)

Introduction

467

(1)

Gyrate Atrophy

467

(10)

Choroideremia

477

(7)

Inherited Choroidal Atrophies

484

(1)

References

485

(8)

Night Vision Disorders

493

(28)

Introduction

493

(1)

Congenital Stationary Night Blindness with Normal Fundi

494

(13)

Congenital Nyctalopia with Abnormal Fundi

507

(7)

References

514

(7)

Glaucoma

521

(36)

Introduction

521

(1)

Primary Open-Angle Glaucoma

522

(12)

Primary Angle Closure Glaucoma

534

(4)

Primary Infantile Glaucoma

538

(3)

Hereditary Juvenile Glaucoma

541

(2)

Pigmentary Glaucoma

543

(1)

Secondary Developmental Glaucomas

544

(2)

References

546

(11)

Inherited Diseases of the Optic Nerve

557

(32)

Introduction

557

(1)

Autosomal Dominant Optic Atrophy

557

(8)

Recessive Optic Atrophies

565

(4)

Leber Optic Atrophy

569

(12)

References

581

(8)

Strabismus

589

(16)

Introduction

589

(1)

Isolated Concomitant (Nonstrabismic) Strabismus

589

(5)

Associated and Syndromic Strabismus

594

(5)

References

599

(6)

Ametropia

605

(22)

Introduction

605

(1)

Studies on Etiology of Myopia

606

(13)

Myopia in Syndromes and Other Ocular Diseases

619

(1)

Management and Genetic Counseling

620

(1)

References

621

(6)

Inherited Tumors of the Eye

627

(48)

Introduction

627

(1)

Retinoblastoma and Retinoma

627

(28)

Malignant Melanoma

655

(2)

Xeroderma Pigmentosum

657

(3)

References

660

(15)

The Phakomatoses

675

(50)

Introduction

675

(1)

Neurofibromatosis Type 1

676

(11)

Neurofibromatosis Type 2

687

(3)

Tuberous Sclerosis

690

(7)

Von Hippel--Lindau Disease

697

(8)

Sturge-Weber Syndrome

705

(1)

Neuro-Oculocutaneous Cavernous Hemangiomatosis

705

(5)

Other Multisystem Syndromes

710

(2)

References

712

(13)

Albinism

725

(44)

Introduction

725

(1)

Oculocutaneous Albinism

725

(15)

Ocular Albinism

740

(6)

Hermansky--Pudlak Syndromes (HPS)

746

(3)

Chediak--Higashi Syndrome (CHS)

749

(2)

Albinoidism and Subclinical Albinism

751

(1)

Waardenburg Syndrome

751

(5)

References

756

(13)

Mitochondrial DNA and Eye Disease

769

(16)

Introduction

769

(3)

The Clinical and Genetic Types of Mitochondrial DNA Diseases

772

(1)

Melas

773

(4)

Management

777

(2)

References

779

(6)

Index

785

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Inherited Eye Diseases: Diagnosis and Management

9781574448399

1574448390

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