Inherited Eye Diseases: Diagnosis and Management

Front cover......Page 1
Preface to Second Edition......Page 8
Foreword to First Edition......Page 10
Preface to First Edition......Page 12
Contents......Page 14
MOLECULAR GENETICS......Page 20
GENES, GENOTYPES AND PHENOTYPES......Page 21
OCULAR GENE THERAPY......Page 22
ETHICS OF GENETIC EYE DISEASES......Page 23
REFERENCES......Page 24
Autosomal Dominant Inheritance......Page 26
Autosomal Recessive Inheritance......Page 27
X-Linked Recessive Inheritance......Page 28
Genetic Heterogeneity......Page 30
DIGENIC INHERITANCE......Page 31
Imprinting......Page 32
MULTIFACTORIAL INHERITANCE......Page 33
Chromosomal Inheritance Mimicking a Recessive Disorder......Page 34
DIAGNOSTIC TESTS IN GENETIC DISEASES OF THE EYES Family History......Page 35
Chromosomal Studies......Page 36
Gene Mapping and Linkage......Page 37
REFERENCES......Page 38
INTRODUCTION TO MOLECULAR BIOLOGY......Page 40
DNA MUTATIONS......Page 42
IDENTIFICATION OF DISEASE-CAUSING GENES......Page 43
Positional Cloning......Page 44
Using Gene Expression Data......Page 45
REFERENCES......Page 46
INTRODUCTION......Page 48
The Clinical and Genetic Types......Page 49
Pathology and Pathogenesis......Page 55
Management......Page 56
The Locus at Chromosome 5q31......Page 57
The Clinical and Genetic Types of TGFBI/BIGH3 Gene Associated Corneal Dystrophies......Page 58
Table 2......Page 61
Pathology and Pathogenesis......Page 68
Management......Page 71
AUTOSOMAL RECESSIVE CORNEAL DYSTROPHIES PRIMARILY AFFECTING THE STROMA Description......Page 72
The Clinical and Genetic Types......Page 74
Diagnosis, Pathology, and Pathogenesis......Page 77
MERETOJA-TYPE AMYLOIDOSIS AND THE GELSOLIN GENE The Clinical and Genetic Entity......Page 79
CENTRAL CRYSTALLINE DYSTROPHY The Clinical and Genetic Entity......Page 80
Pathology and Pathogenesis......Page 81
Francois Corneal Dystrophy......Page 82
Posterior Amorphous Corneal Dystrophy......Page 85
Pre-Descemet’s Membrane Corneal Dystrophy......Page 86
The Clinical and Genetic Types......Page 87
Pathology and Pathogenesis......Page 93
Management......Page 95
The Clinical and Genetic Types......Page 96
OTHER INHERITED CORNEAL ABNORMALITIES......Page 99
Disorders of Carbohydrate Metabolism......Page 100
The Mucolipidoses......Page 101
Miscellaneous Disorders......Page 102
REFERENCES......Page 103
Description and Clinical Findings......Page 120
The Clinical and Genetic Types of Aniridia......Page 122
Pathology......Page 125
Epidemiology and Molecular Genetics......Page 126
Management......Page 128
AXENFELD–RIEGER SYNDROMES......Page 129
The Clinical and Genetic Types......Page 130
Molecular Genetics......Page 132
Diagnosis......Page 133
CONGENITAL MIOSIS (MICROCORIA)......Page 134
VARIOUS IRIS ANOMALIES......Page 135
Behc¸et’s Disease and Posterior Uveitis......Page 136
REFERENCES......Page 137
INTRODUCTION......Page 144
Genetic and Clinical Types......Page 145
Pathology and Pathogenesis......Page 153
Management......Page 155
Genetic and Clinical Types......Page 158
INFANTILE CATARACTS WITH INBORN ERRORS OF METABOLISM Introduction......Page 163
Genetic and Clinical Types......Page 164
Clinical Management......Page 166
Genetic and Clinical Types......Page 167
Syndromes and Multisystem Diseases......Page 169
Pathology and Pathogenesis......Page 172
REFERENCES......Page 173
ECTOPIA LENTIS IN SYSTEMIC AND MULTISYSTEM DISEASES Introduction......Page 186
Clinical and Genetic Types of Associated Ectopia Lentis......Page 187
Management......Page 197
Clinical and Genetic Types of Isolated Ectopia Lentis......Page 199
Pathology and Pathogenesis......Page 200
ANTERIOR LENTICONUS AND ALPORT SYNDROME......Page 201
MICROSPHEROPHAKIA......Page 203
REFERENCES......Page 204
INTRODUCTION......Page 210
The Clinical and Genetic Types......Page 211
Diagnosis and Laboratory Tests......Page 223
Pathology......Page 224
Management......Page 226
Description and Clinical Findings......Page 227
The Clinical and Genetic Types......Page 229
Pathology and Pathogenesis......Page 234
Epidemiology and Genetics......Page 236
THE PATTERN DYSTROPHIES OF THE PIGMENT EPITHELIUM Introduction......Page 237
The Clinical and Genetic Types......Page 238
Management......Page 242
Description and Clinical Findings......Page 244
SORSBY FUNDUS DYSTROPHY AND THE TIMP3 GENE......Page 248
NORTH CAROLINA MACULAR DYSTROPHY......Page 249
Benign Concentric Annular Macular Dystrophy......Page 252
Congenital Macular Coloboma......Page 253
Sjo¨gren–Larsson syndrome......Page 254
AGE RELATED MACULAR DEGENERATION......Page 256
REFERENCES......Page 257
THE CONE DYSTROPHIES Introduction......Page 270
The Clinical and Genetic Types of Cone Dystrophies......Page 273
THE CONGENITAL DYSCHROMATOPSIAS Introduction......Page 288
The Clinical Manifestation and Diagnosis of Color Vision Defects......Page 289
The Genetics of Normal Color Vision......Page 291
The Inheritance of Congenital Dyschromatopsia......Page 292
REFERENCES......Page 293
INTRODUCTION......Page 302
Description and Clinical Findings......Page 303
AUTOSOMAL DOMINANT NON-SYNDROMIC RP Introduction......Page 309
Molecular genetics of ADRP......Page 314
AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA Description......Page 319
Molecular Genetics of ARRP......Page 320
X-CHROMOSOME LINKED RP Description......Page 325
Molecular Genetics of XLRP......Page 328
DIAGNOSTIC TESTS AND OTHER ASPECTS OF ISOLATED RETINITIS PIGMENTOSA Introduction......Page 330
Electroretinography......Page 331
Other Clinical Tests......Page 333
Pathology......Page 334
Pathogenesis, Biochemistry, and Research of Retinitis Pigmentosa......Page 337
Epidemiology and Genetics......Page 343
Management......Page 345
REFERENCES......Page 352
Description and Clinical Findings......Page 378
The Clinical Types of LCA......Page 379
The Genetic Types of LCA......Page 380
Clinical Aspects of Usher Syndrome......Page 383
The Genetic Types of Usher Syndrome......Page 385
BARDET–BIEDL SYNDROME......Page 388
Clinical Description......Page 389
Table 6......Page 391
Subtypes of BBS and Molecular Genetics......Page 392
RETINITIS PIGMENTOSA ASSOCIATED WITH OTHER DISORDERS RP with Lipid Disorders......Page 393
Retinitis Pigmentosa with CNS Disorders......Page 395
RP with Renal Disease......Page 398
RP Associated Mucopolysaccharidoses......Page 400
Other RP Associations......Page 402
REFERENCES......Page 403
VITREORETINAL NONSYNDROMIC DEGENERATION AS AN ISOLATED DISORDER Description......Page 416
The Clinical and Genetic Types of Isolated Vitreoretinal Degeneration......Page 419
Diagnosis......Page 431
Genetics......Page 432
Management......Page 433
INHERITED VITREORETINAL DEGENERATIONS ASSOCIATED WITH A GENERALIZED DISEASE (SYNDROMIC VITREORETINAL DEGENERATIONS) Description and Clinical Findings......Page 434
The Clinical and Genetic Types of Associated Vitreoretinopathies......Page 435
OTHER INHERITED ABNORMALITIES OF THE VITREOUS......Page 440
REFERENCES......Page 441
X-LINKED JUVENILE RETINOSCHISIS......Page 450
Description and Clinical Findings......Page 451
Clinical and Genetic Types of Congenital Retinoschisis......Page 453
Diagnosis, Pathology, and Pathogenesis......Page 454
Epidemiology and Genetics......Page 455
FAMILIAL RETINAL DETACHMENT......Page 456
NORRIE DISEASE AND ALLIED DISORDERS (PSEUDOGLIOMA)......Page 457
The Clinical Types of Inherited Pseudoglioma......Page 458
Genetics......Page 462
The Clinical and Genetic Types......Page 463
The Clinical and Genetic Entities......Page 465
Management of Thrombophilia......Page 468
FLECKED RETINA......Page 469
CONGENITAL HYPERTROPHY OF THE RETINAL PIGMENT EPITHELIUM......Page 470
ANGIOID STREAKS......Page 472
CHORIORETINAL DEGENERATIONS WITH CENTRAL NERVOUS SYSTEM ANOMALIES......Page 473
PIGMENTARY RETINOPATHY ASSOCIATED WITH THE ENHANCED S-CONE SYNDROME (ESCS) Clinical Entities......Page 474
REFERENCES......Page 475
Description and Clinical Findings......Page 486
The Clinical and Genetic Types of Gyrate Atrophy......Page 489
Diagnosis and Laboratory Tests......Page 490
Pathology and Pathogenesis......Page 491
Epidemiology and Genetics......Page 492
Management......Page 493
Description and Clinical Findings......Page 496
Pathology and Pathophysiology......Page 499
Epidemiology and Genetics......Page 500
Management......Page 502
INHERITED CHOROIDAL ATROPHIES......Page 503
REFERENCES......Page 504
INTRODUCTION......Page 512
Diagnosis and Laboratory Findings......Page 513
Pathology and Pathogenesis......Page 516
Autosomal Dominant CSNB......Page 517
X-Iinked CSNB......Page 521
CONGENITAL NYCTALOPIA WITH ABNORMAL FUNDI......Page 526
Fundus Albipunctatus......Page 527
Oguchi Disease and the Two Causative Genes......Page 529
Other Flecked Retinal Disorders......Page 532
REFERENCES......Page 533
INTRODUCTION......Page 540
Corticosteroids and Glaucoma......Page 541
Family Studies......Page 544
Risk Factors......Page 545
Epidemiology......Page 546
The Genetic and Clinical Types of POAG......Page 547
Management of Chronic Open-Angle Glaucoma......Page 552
Risk Factors and Primary Angle Closure Glaucoma......Page 553
Management......Page 556
Family Studies......Page 557
Genetics and Molecular Genetics......Page 558
HEREDITARY JUVENILE GLAUCOMA......Page 560
PIGMENTARY GLAUCOMA......Page 562
SECONDARY DEVELOPMENTAL GLAUCOMAS......Page 563
REFERENCES......Page 565
AUTOSOMAL DOMINANT OPTIC ATROPHY Clinical Classification......Page 576
Clinical Findings in DOA......Page 579
Diagnosis, Laboratory Tests, and Pathology......Page 580
Epidemiology and Genetics......Page 582
Management of DOA......Page 583
The Clinical and Genetic Types of Recessive Optic Atrophy......Page 584
LEBER OPTIC ATROPHY Description and Clinical Findings......Page 588
Epidemiology and Genetics......Page 591
The Genetic and Clinical Types of LOA......Page 592
Drusen of the Optic Nerve......Page 596
Congenital Abnormalities of the Optic Nerve Head......Page 597
REFERENCES......Page 600
Studies on Heredity of Strabismus......Page 608
The Inheritance of Strabismus and Genetic Counseling......Page 611
ASSOCIATED AND SYNDROMIC STRABISMUS......Page 613
REFERENCES......Page 618
INTRODUCTION......Page 624
Results of Studies......Page 625
Conclusions From Studies......Page 637
MYOPIA IN SYNDROMES AND OTHER OCULAR DISEASES......Page 638
MANAGEMENT AND GENETIC COUNSELING......Page 639
REFERENCES......Page 640
RETINOBLASTOMA AND RETINOMA General Description......Page 646
Clinical Findings......Page 647
The Clinical and Genetic Types of Retinoblastoma......Page 651
Laboratory Tests and Additional Examinations......Page 660
Pathology......Page 663
Epidemiology and Genetics of Retinoblastoma......Page 665
The Management of Retinobiastoma......Page 670
Pathology and Pathogenesis......Page 674
Epidemiology and Genetics......Page 675
Clinical Manifestations......Page 676
Pathology and Pathogenesis......Page 677
Epidemiology and Genetics......Page 678
REFERENCES......Page 679
INTRODUCTION......Page 694
The Clinical Manifestations of Neurofibromatosis Type 1......Page 695
Diagnosis......Page 700
Pathology and Pathogenesis......Page 701
Epidemiology, Genetics and Molecular Genetics......Page 702
Management......Page 704
The Clinical Manifestations of NF Type 2......Page 706
Management......Page 708
The Clinical Manifestations of Tuberous Sclerosis......Page 709
The Diagnosis of Tuberous Sclerosis......Page 713
Epidemiology and Genetics......Page 714
Clinical Management......Page 715
The Clinical Manifestations of von Hippel–Lindau Disease......Page 716
The Diagnosis of von Hippel–Lindau Disease......Page 721
Epidemiology, Genetics and Molecular Genetics......Page 722
Clinical Management......Page 723
NEURO-OCULOCUTANEOUS CAVERNOUS HEMANGIOMATOSIS......Page 724
The Clinical Manifestations of Neurooculocutaneous Cavernous Hemangiomatosis......Page 725
Epidemiology and Genetics......Page 728
Multiple Endocrine Neoplasia Syndromes......Page 729
Basal Cell Nevus Syndrome......Page 730
REFERENCES......Page 731
OCULOCUTANEOUS ALBINISM Description and Clinical Findings......Page 744
The Clinical and Genetic Types of Oculocutaneous Albinism......Page 746
Pathology, Biochemistry, and Pathophysirology of Oculocutaneous Albinism......Page 752
Diagnosis and Tests in Oculocutaneous Albinism......Page 755
Management of Oculocutaneous Albinism......Page 758
OCULAR ALBINISM......Page 759
The Clinical and Genetic Types......Page 760
HERMANSKY–PUDLAK SYNDROMES (HPS) Clinical Manifestations......Page 765
The Clinical and Genetic Types of HPS......Page 766
CHEDIAK–HIGASHI SYNDROME (CHS)......Page 768
Management......Page 769
Description and Clinical Findings......Page 770
WS1 (Waardenburg Syndrome Type I)......Page 771
Diagnosis......Page 774
REFERENCES......Page 775
INTRODUCTION......Page 788
NARP and Maternally Inherited Leigh Syndrome......Page 791
MELAS......Page 792
Maternally Inherited Diabetes and Deafness......Page 793
Myoclonic Epilepsy and Ragged Red Fibers Syndrome......Page 794
KSS and Chronic Progressive Extraocular Ophthalmoplegia......Page 795
MANAGEMENT Medical Treatment......Page 796
Prenatal Diagnosis......Page 797
REFERENCES......Page 798
Index......Page 804
Back cover......Page 818