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Fundamentals and Principles of Ophthalmology 2000-2001

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CONTENTS

PAGE

Genera! Introduction xv

Objectives to BCSC Section 2 1

Introduction to Section 2 3

Part 1: Anatomy 7

I. Orbit and Ocular Adnexa 9

Orbital anatomy 9

Periorbital sinuses 9

Orbital volume 9

Bony orbit 9

Orbital margin 10

Orbital roof 10

Medial orbital wail 12

Orbital floor 14

Lateral orbital wall 15

Orbital foramina, ducts, canals, and fissures 16

Cranial nerves 16

Ciliary ganglion 19

Branches of the ciliary ganglion 19

Short ciliary nerves 21

Extraocular muscles 21

Extraocular muscle insertions 21

Extraocular muscle distribution in the orbit 21

Extraocular muscle origins 21

Blood supply to the extraocular muscles 23

Structure of the extraocular muscles 26

Eyelids 26

Anatomy 28

Vascular supply of eyelids 35

Lymphatics of eyelids 36

Accessory eyelid structures 36

Lacrimal gland and excretory system 37

Lacrimal gland 37

Accessory glands 39

Lacrimal excretory system 39

Conjunctiva 39

Tenon's capsule 41

Vascular supply and drainage of the orbit 41

Anterior and posterior ciliary arteries 41

Vortex veins 45

II. Topographic Features of the Globe 46

Cornea 46

Sclera 46

III. The Eye

Precorneal tear film 47

Cornea 47

Characteristics of the centra! and peripheral cornea 47

Epithelium and basal lamina 47

Nonepithelial cells 49

Bowman's layer 49

Stroma 49

Descemet's membrane 49

Endothelium 51

Sclera 51

Limbus 53

Anterior chamber . . 54

Trabecular meshwork 55

Corneoscleral meshwork 57

Uveal trabecular meshwork 57

Schlemm's canal 58

Collector channels 58

Gonioscopy of the chamber angle—clinical anatomy "59

Uveal tract 61

Iris 61

Stroma 61

Vessels and nerves 62

Posterior pigmented layer 62

Dilator muscle 63

Sphincter muscle 64

Ciliary body 64

Ciliary epithelium and stroma 64

Ciliary muscle 67

Choroid 68

Bruch's membrane 69

Choriocapillaris 70

Lens 72

Capsule 73

Epithelium 74

Fibers 76

Zonular fibers 76

Retina 76

Retinal pigment epithelium 77

Neurosensory retina 80

Stratification of the retina 85

Macula 86

Ora serrata 89

Vitreous 89

IV. Cranial Nerves: Central and Peripheral Connections 93

Cranial nerve I (olfactory) 93

Optic nerve (cranial nerve II) 93

Intraocular portion 99

Intraorbital portion 101

Intracanalicular portion .101

Intracranial portion 102

Blood supply of the optic nerve 105

Cranial nerve III (oculomotor) . 107

Cranial nerve IV (trochlear) Ш

Cranial nerve V (trigeminal) 112

Divisions of cranial nerve V 115

Cranial nerve VI (abducens) 116

Cranial nerve VII (facial) 116

Cavernous sinus 119

Other venous sinuses 120

Circle of Willis 121

Part 2: Embryology 123

Glossary 125

V. Ocular Development 128

Introduction 128

Growth factors 128

Homeobox genes 129

Neural crest cells 130

Embryogenesis 133

Organogenesis of the eye 134

Neurosensory retina 140

Retinal pigment epithelium (RPE) 144

Optic nerve 145

Lens 146

Vitreous 148

Choroid 148

Cornea and sclera 150

Anterior chamber, angle, iris, and ciliary body 153

Vascular system * 156

Periocular tissues and eyelids 158

Realignment of the globe 159

VI. Congenital Anomalies 160

Introduction 160

Anophthalmos, microphthalmos, and nanophthalmos 163

Cyclopia and synophthalmia 165

Orbital cyst and cryptophthalmos 166

Developmental anomalies of the cornea 167

Congenital anterior chamber anomalies 169

Iris 171

Colobomas 172

Lens 172

Retina 174

Retinal pigment epithelium 174

Optic disc and nerve 1 /4

Persistent hyperplastic primary vitreous "175

Abnormalities of pigmentation T 75

Orbital dermoid cyst 1 79

Eyelid colobomas 179

Part 3: Genetics 181

VII. Introduction 183

Terminology 183

Glossary 184

VIII. Molecular Genetics 199

DNA, genes, and chromosomes 199

DNA 199

Chromosomal structure 205

Gene transcription 207

Transcription factors and regulation 207

Creation of RNA from DNA 211

Processing of mRNA 211

Intron excision 211

Alternate splicing, isoforms 211

Methylation 212

X-inactivation (Lyonization) 212

Imprinting 213

Gene translation 213

Protein synthesis 213

Posttranslation modification 215

Gene duplication (DNA replication) 215

DNA repair 216

DNA damage 216

Excision repair 217

Mismatch repair 218

Mutations and disease 219

Requirements for identifying a disease-producing mutation 219

Mutations 219

Cancer genes 220

Mitochondrial genome 222

Genetic code 222

Genomic structure 222

Mitochondrial disease 223

The search for genes in specific diseases 226

Synteny 226

Cytogenetic markers (morphologically variant chromosomes) 227

Gene dosage 227

Segregation of cellular traits and chromosomes in clones

of somatic cell hybrids 227

Association 227

Linkage 228

Positional cloning 231

Candidate gene approaches 232

Molecular manipulation and analysis of DNA 233

Recombinant genetics 233

Polymerase chain reaction (PCR) 235

Mutation screening 237

Transgenic and knockout animals 239

Gene therapy 244

Replacement of absent gene product in X-linked and

recessive disease 244

Strategies for dominant diseases 244

IX. Clinical Genetics 247

Introduction 247

Terminology: hereditary, genetic, familial, congenital 247

Genes and chromosomes 249

Alleles 251

Mitosis 252

Meiosis, segregation, independent assortment, linkage 252

Meiosis . 252

Segregation 253

Independent assortment 254

Linkage 254

Chromosomal analysis 254

Indications for chromosome analysis 255

Preparation for chromosomal analysis 255

Aneuploidy of autosomes 259

Aneuploidy of sex chromosomes 265

Mosaicism 265

Mechanisms of chromosomal abnormalities 267

Etiology of chromosomal aberrations 268

Specific chromosomal abnormalities 268

Mutations я 272

Polymorphisms 273

Genome, genotype, phenotype 273

Single-gene disorders 274

Variability, penetrance, and expressivity 274

Pleiotropism 276

Heterogeneity 276

Racial and ethnic concentration of genetic disorders 277

Patterns of inheritance 278

Recessivity versus dominance 278

Autosomal recessive inheritance 279

Autosomal dominant inheritance 283

X-linked inheritance 284

Maternal inheritance 288

Lyonization (X chromosome inactivation) 288

Polygenic and multifactorial inheritance 292

Pedigree analysis 293

Genetic counseling 296

Obstacles to genetic counseling 296

Prenatal diagnosis 297

New developments 298

Pharmacogenetics .298

Clinical management of genetic disease 299

Accurate diagnosis 299

Complete explanation of the disease 299

Treatment of the disease process 300

Genetic counseling 302

Part 4: Biochemistry and Metabolism 303

X. Tear Film 305

Lipid layer 305

Aqueous phase 306

Mucoid layer 308

Tear secretion 308

Tear dysfunction 309

XI. Cornea 310

Epithelium 311

Bowman's layer 311

Stroma 312

Descemet's membrane 314

Endothelium 314

XII. Iris-Ciliary Body 316

Aqueous humor dynamics 316

Eicosanoids 317

Neurotransmitters and receptors 319

Miotics , 320

Mydriatics 321

Calcium channels and channel blockers 321

Signal transduction in the iris—ciliary body 322

Receptor-effector coupling 322

Cyclic AMP and polyphosphoinositide turnover 322

XIII. Aqueous Humor 325

Inorganic ions . . . 325

Organic anions 325

Carbohydrates 326

Glutathione and urea 326

Proteins 326

Growth modulatory factors 327

Oxygen and carbon dioxide 328

Clinical implications of breakdown of blood-aqueous barrier 328