Index

A

Abetalipoproteinemia, 156 Abuse, 410, 416, 419

Abusive head trauma (AHT), 409–419 Achromatopsia, 306, 309

Acquired immune deficiency syndrome (AIDS), 365–367, 369, 370, 372, 377, 385–387, 389, 390, 392

Acute retinal necrosis (ARN), 375–377 Acyclovir, 375, 376

AHT. See Abusive head trauma

AIDS. See Acquired immune deficiency syndrome Alagille syndrome, 303

Albinism, 147–148 All-trans retinal, 54 Alstrom disease, 303 Amino acid, 147–150, 157

ANA. See Anti-nuclear antibody Angiogenesis, 46

Angiography, 170, 182, 183 Angioid streaks, 345, 346

Angiomatosis, 159, 166, 167, 176–178 Anti-nuclear antibody (ANA), 435, 436, 440 Arginine, 149

Argyl Robinson pupil, 385 ARN. See Acute retinal necrosis Ash leaf, 174

Aspergillus, 392

Astrocytes, 42–44, 46, 48, 59

Astrocytoma, 162, 173, 175 Ataxia telangiectasia, 160, 180 Autoregulation, 48, 49

B

Bardet-Biedl syndrome, 301–303 Bartonella, 388, 449–451 Bassen-Kornzweig, 303, 310 Bergmeister papilla, 193, 194

Best dystrophy, 246, 248–252, 256, 260, 265, 274, 275, 277, 279–281, 283, 284

Bipolar cells, 41, 43, 50, 55, 56, 59 Birth trauma, 424

Birth weight, 94, 95, 97, 98, 100, 104, 105 Black flies, 381, 382

Blastomyces, 393 Borrelia, 388 Brucella, 387

Brucellosis, 387

Bruch’s membrane, 40, 42, 46, 50, 53, 345–349

C

Café-au-lait, 161–163 Candida, 370, 390, 391, 393 Candle wax drippings, 439 Cats, 361, 362, 379, 388

Cat Scratch disease, 388–389 CD4, 369, 370

CHARGE, 126 Chediak-Higashi, 148, 149

Child abuse, 410, 411, 415–417, 419 Choroideremia, 300, 307–309 Chronologic age, 97, 98, 100, 103, 104 Cilioretinal vessels, 45

Circle of Zinn, 48 11-Cis retinal, 51 Clindamycin, 366

CMV. See Cytomegalovirus Coat’s disease

classification in, 235–236 differential in, 239–240 genetics in, 238–239 treatment in, 237, 240, 241

Coccidiomyces, 393 Cockayne syndrome, 303 Commotio, 427–428

Congenital Leber amaurosis (LCA), 296, 297, 299, 300, 303–305, 309

Congenital stationary night blindness (CSNB), 295–297, 299, 305–306, 309

CRYO-ROP. See Cryo therapy for ROP

Cryo therapy for ROP (CRYO-ROP), 87, 91, 94, 95, 97–100, 103–108, 110

Cryptococcus, 392

CSNB. See Congenital stationary night blindness Cyclopia, 4, 6, 8–10

Cyclosporine, 225, 228, 229 Cystinosis, 149–150

Cytomegalovirus (CMV), 365, 367–372, 375

D

Dark current, 54, 74, 96

Diabetes, 351–354

Diet, 149, 156, 157

Double ring sign, 119

E

Early treatment for ROP (ET-ROP), 87 Electroretinography (ERG)

focal, 67, 78–82 full field, 67–78

multi-focal, 67, 78–82 protocol, 69, 94, 105, 106, 111 a-wave, 67–70, 73, 74, 77 b-wave, 67–71, 73–76

ELISA, 371

ERG. See Electroretinography ET-ROP. See Early treatment for ROP Exudation, 235–238, 240

F

Fabry disease, 152

Familial exudative vitreoretinopathy (FEVR), 351, 352 classification in, 327–328

genetics in, 328–329 incidence in, 330 pathophysiology in, 329–330 treatment in, 331

FAZ. See Foveal avascular zone

FEVR. See Familial exudative vitreoretinopathy FF. See Fundus flavimaculatus

Flecks, 246–249, 252, 254, 255, 257, 259 Flicker, 69–71

Flynn-Aird syndrome, 303 Fovea, 3, 22–26

Foveal avascular zone (FAZ), 39, 47

Fundus flavimaculatus (FF), 246–249, 252, 259, 265, 279, 282, 284

G

Ganciclovir, 372, 376

Ganglion cells, 39–45, 49–51, 55–59 Genotype, 249, 252, 261, 262, 281, 282, 284 Gestational age, 97, 105

GFS. See Goldmann-Favre syndrome Glioma, 160–164

Glycoprotein, 156–157

Glycosphingolipid, 152 Goldmann-Favre syndrome (GFS)

genetics in, 332 incidence in, 333

pathophysiology in, 332–333 treatment in, 333

Gorlin syndrome, 10, 11 Granuloma, 379–381

Gyrate atrophy, 149, 297, 307–310

H

Hemangioma, 159, 166–170, 176–179, 181–183 Henle’s layer, 39, 43, 45, 59 Hermansky-Pudlak, 148, 149

Herpes simplex (HSV), 365, 367, 368, 370, 373–375 Hexoseaminidase, 151, 156

Histoplasmosis, 346, 347, 389–390, 392 HIV. See Human immunodeficiency virus HLA B27, 436–438

Homeotic, 1, 4, 11–14

Horizontal cells, 41, 43, 45, 50, 55 HSV. See Herpes simplex

Human immunodeficiency virus (HIV), 369, 372, 377, 385–387

Hyaloid, 46, 191–194, 197–199 Hyperoxaluria, 150 Hyperoxia, 101, 102

Hypoxia, 101, 102

I

Incontinentia pigmenti (IP), 351, 355–358 genetics in, 334–335

incidence in, 335 pathophysiology in, 335 treatment in, 336

Induction, 3–6, 10, 15

Interphotoreceptor retinoid-binding protein (IRBP), 7, 18, 19, 50

IP. See Incontinentia pigmenti

IRBP. See Interphotoreceptor retinoid-binding protein Iridohyaloid, 192, 193

J

Jeune syndrome, 303

JIA. See Juvenile idiopathic arthritis Juvenile idiopathic arthritis (JIA), 435 Juvenile retinoschisis

genetics in, 323–324 incidence in, 325 pathophysiology in, 324–325 treatment in, 326

K

Knudson, A.G., 167, 215

L

LCA. See Congenital Leber amaurosis Leber congenital amaurosis, 78–82 Leptospira, 387, 388

Leptospirosis, 387–388 Leukocoria, 207, 208, 210, 236, 239 LF. See Lipofuscin

Life cycle, 362, 379

Light reduction in ROP (LIGHT-ROP), 87 LIGHT-ROP. See Light reduction in ROP Lipofuscin (LF), 40, 247, 251, 254, 255, 265, 272,

275, 278, 280, 281, 283 Lisch nodules, 160, 161, 163 Lyme disease, 388

M

Macular

fold, 92, 93, 107, 108 heterotopia, 93, 107

Measles, 367, 377–378

Melanopsin, 51, 56, 57 Mittendorf dot, 193 Morning glory, 120–122

MPS. See Mucopolysaccharidoses Mucopolysaccharidoses (MPS), 153–156, 299, 303 Muller cells, 50

Mycobacterium, 386

Myelination, 49, 140

N

National cooperative study, 86 ND. See Norrie disease Nematode, 447, 451

Neovascularization (NV), 87, 89, 99, 102, 108, 351–358 Neurofibroma, 161–164

Neurofibromatosis, 159–166 Nevus flammeus, 177 Nieman-Pick disease, 151, 152 Nodes of Ranvier, 49

Norrie disease (ND), 351, 352 genetics in, 337

incidence in, 337 pathophysiology in, 337 treatment in, 338

NV. See Neovascularization Nyctalopia, 246, 248, 249, 253

O

Oguchi disease, 305, 306, 309 Onchocerca, 381–383 Oocyst, 361, 362

Opsin, 40, 50–52, 54

Optic cup, 2, 3, 5, 9, 10, 15–18, 21 Optic nerve

coloboma, 118, 121, 123, 125–127, 137–140 drusen, 136–137

glioma, 127–131, 133

hypoplasia, 117–120, 126, 137–140 melanocytoma, 127, 133–135 meningioma, 127, 129, 131–133 metastatic, 127

pits, 123, 124 tilted disc, 137–139 tumors, 127–131

Optic vesicle, 2–5, 14–19 Organogenesis, 4, 10 Ornithine, 149

Oscillatory potential, 70, 75 Osteosarcoma, 217

Oxygen, 86, 87, 100–102, 106

P

Parasite, 361, 362, 364, 365, 378–383, 393 Pars planitis, 434, 441–443, 448 Peroxisomes, 157

Persistent fetal vasculature (PFV), 191, 193–200, 202 Persistent hyperplastic primary vitreous (PHPV), 191–202 PFV. See Persistent fetal vasculature

Phacomatoses, 159–183

Phenotype, 249, 252, 254, 255, 259, 260, 262, 271, 273, 281–285

Pheochromocytoma, 167–170 Photodynamic therapy, 347 Photoreceptors, 39–44, 47, 49–57, 59

PHPV. See Persistent hyperplastic primary vitreous Phytanic acid, 157

Pituitary, 117, 118, 120

Pneumocystis, 366, 392–393

Postmenstrual age, 58, 97, 98, 100, 103, 104 Projectile, 424–425

Protozoa, 361–367

Pupillary membrane, 192, 193, 196, 198, 200, 201 Pyrimethamine, 366, 367

R

Refsum disease, 157, 301–303, 310 Retinal dysplasia, 11

Retinal hemorrhages, 409–419

Retinal pigment epithelium (RPE), 40–42, 45, 49 Retinal tear, 425, 428–429

Retinitis pigmentosa, 70, 74–76 diagnostic testing in, 299–301 genetics in, 298 pathophysiology in, 298–299 prevalence in, 299

treatment of, 301 Retinoblastoma

chemotherapy in, 209, 211–213, 219, 220, 222–232 classification of, 213–215, 220

computerized tomography (CT) in, 208, 211 cryotherapy in, 209, 223–225, 229 differential in, 209, 210, 215

enucleation in, 209, 214, 219–222, 227, 229–231 genetics in, 215–217, 222

incidence of, 221

magnetic resonance imaging (MRI) in, 211, 212, 229, 232

mutations in, 207, 216, 217, 232 orbital implant in, 221, 222 prevalence in, 205

radiation in, 211, 217, 220, 222, 227–232 staging in, 211–214

trilateral, 211, 212, 227 Retinopathy of prematurity (ROP)

acute, 86, 87, 95, 102, 104, 105, 108, 110 amblyopia, 106, 109

cicatricial, 86, 87, 91, 92, 97, 102, 106 classification, 87–93

incidence, 97 location, 87–89, 97, 99 myopia, 87–89, 97, 99

pathogenesis, 100–102, 111 pre-threshold, 87, 89, 94, 97, 98, 103–105

screening, 85, 93, 95, 98, 99, 102–106, 110, 111 staging, 91, 97

strabismus, 106, 109

threshold, 91, 92, 94, 97–99, 106–108 zone, 87, 94, 105, 108–110

Retinoschisin (RS1), 254, 258, 260, 261, 263, 277, 278, 280–282, 284

Retinoschisis, 246, 252, 254, 281 Retrolental fibroplasia (RLF), 85, 86 Rhodopsin, 52, 54, 74

Rickettsia, 361, 393–394

RLF. See Retrolental fibroplasia ROP. See Retinopathy of prematurity RS1. See Retinoschisin

Rubella, 365, 367, 368, 378, 385

S

Salmon patch, 354 Sandhoff disease, 151 Sarcoidosis, 436, 438–442 SC. See Sickle cell Schwannoma, 159, 164, 165 Sea fan, 354

Seeds, 208, 212, 214, 224–228 Senior-Loken syndrome, 303 Septum pellucidum, 117, 118, 120 Sialidosis, 156–157

Sickle cell (SC), 351, 352, 354–357 Sonic hedgehog, 8–11 Sphingomyelin, 151, 152

Sports, 424

Stargardt dystrophy, 246–249 Stationary night blindness, 76–77 Stickler syndrome (STK)

classification of, 316 genetics in, 316 incidence in, 319

pathophysiology in, 316–318 treatment in, 319

STK. See Stickler syndrome

STOP-ROP. See Supplemental therapeutic oxygen String of pearls, 439

Sturge-Weber syndrome, 159, 176 Sulfadiazine, 366

Supplemental therapeutic oxygen (STOP-ROP), 87 Sympathetic ophthalmia, 425–426

Syphilis, 365, 368, 383–386, 436, 442, 452–453

T

Tay-Sachs disease, 151

Telangiectasia, 170, 180–182, 236, 238, 240, 241

TORCH, 365, 368, 373, 375 Toxocara, 379–381, 442, 447–449, 451 Toxoplasma, 361–367, 446 Toxoplasmosis, 444–447

Treponema, 383, 385, 452

Triad, 363, 384, 389 Trimethoprim, 366, 393 Tuberculosis, 386–387

Tuberous sclerosis, 159, 160, 170–176 Tubulointerstitial nephritis, 438

Tunica vasculosa lentis (TVL), 191, 196 Tyrosinase, 148

U

Usher syndrome, 296–299, 301–303

Uveitis, classification in, 433–434

V

Varicella zoster, 367, 368, 372–373, 375

Vascular endothelial growth factor (VEGF), 46, 51, 96, 101, 102, 106

Vascularization, 93, 96, 97, 99–102, 105, 108 Vasculogenesis, 46

Vaso cessation, 101 Vaso obliteration, 101

Vaso proliferation, 101, 102

VEGF. See Vascular endothelial growth factor VHL. See Von Hippel-Lindau disease Visceral larval migrans (VLM), 379, 381 Vitamin A cycle, 50, 51

Vitelliform, 249–252, 279, 281 Vitreous

primary, 191–202 secondary, 192, 194 tertiary, 192

VLM. See Visceral larval migrans

Von Hippel-Lindau (VHL) disease, 159, 160 Von Recklinghausen, 159

W

Wagner disease (WGN) genetics in, 320 pathophysiology in, 321 treatment in, 322

WGN. See Wagner disease

Wyburn-Mason syndrome, 159, 160, 178–181