Index

A

Abducens nerve palsy. See Sixth nerve palsy Abetalipoproteinemia, 487–488

Abnormal neuronal migration gray matter heterotopia, 565 lissencephaly, 563–565

Abnormal stem cell proliferation/apoptosis hemimegalencephaly, 562 schizencephaly, 562

Accommodative paresis, 362 Achiasmia, 398–400 Achromatopsia, 10, 400–401

Acute disseminated encephalomyelitis (ADE), 124–125 Addison disease, 107

Addison–Schilder disease. See X-linked adrenoleukodystrophy Adenoma sebaceum, 514–515

Adie syndrome diagnosis, 363

Horner syndrome, 364–366 iris sphincter, 363 light-near dissociation, 362 tonic pupils, 363–364

Adrenoleukodystrophy (ALD), 483–485 Aicardi syndrome, 83–85

Alagille syndrome, 140–142 Albinism

Chediak–Higashi syndrome, 395 congenital hypomelanotic disorders, 394 diffuse hypopigmentation, 395

hemispheric visual evoked potentials, 397–398 optic axon distribution, 396

P gene mutations, 397

pigmentation and axonal migration, 394 positive angle kappa, 395–396 Prader–Willi syndrome, 397

zinc finger transcription factor, 396–397 Albinoidism, 395

Albinotic optic disc, 89

Alice in Wonderland syndrome, 230 Alström syndrome, 402

Alexander disease, 481 Amblyopia, 263

Anterior ischemic optic neuropathy (AION), 132–133 Apraxia of eyelid opening, 362

Arachnoid cysts, 528 Arima syndrome, 323

Arteriovenous malformation (AVM) natural history and clinical features, 554

spontaneous intracranial hemorrhage, 553 treatment, 554–556

Artificial divergence surgery, 409–410

Astrocytomas, 529 Ataxia telangiectasia

autosomal recessive neurocutaneous disease, 521 breakage syndromes, 522

cerebellar hemispheric atrophy, 522–523 conjunctival telangiectasis, 522 MRE11, mutation, 523

ocular motor apraxia and palpebral fissure, 522 progressive cerebellar ataxia, 522

Athetosis, 20

Atropine (anticholinergic drugs), 233–234 Autoimmune optic neuropathy, 133

B

Balint syndrome, 42 Basal ganglia disease

pantothenate kinase-associated neurodegeneration, 485–486 Wilson disease, 486

Batten disease, 160, 184, 469–470 Behr syndrome, 177–178

Benign paroxysmal torticollis, 447–448 Bickerstaff’ brainstem encephalitis, 338 Bilateral schwannomas, 513

Bizarre retinochoroidal defect, 512 Blau syndrome, 120–121 Blindness, 459

Blindness, in infancy congenital causes

optic nerve disorders, 10 retinal blindness, 4–5 stationary night blindness, 10

cortical visual insufficiency (CVI) (see Cortical visual insufficiency (CVI))

diagnostic algorithm, 1, 2 hereditary retinal disorders

Joubert syndrome (see Joubert syndrome)

Leber congenital amaurosis (LCA) (see Leber congenital amaurosis (LCA))

infantile nystagmus

dynamic vestibulo-ocular reflex, 5 neurological diseases, 5 photophobia, 3–4

pupillary examination, 3 unequal nystagmus test, 6 visual evoked potential (VEP), 6

Bloch–Sulzberger syndrome. See Incontinentia pigmenti Blue cone monochromatism, 401–402

Bobble-headed doll syndrome, 457–458 Bonnet–Dechaume–Blanc syndrome, 555 Botulism, 336–337

Brain tumors

adrenocorticotrophic hormone (ACTH) therapy, 526 intracranial pressure and posterior fossa tumors, 527 solid neoplasms, 525

Brainstem tumors, 533–536 Brown syndrome, 350–351

C

Café au lait spots, 504 Cardiogenic embolism, 227–228 Canavan disease, 181, 478–479

Cancer-associated retinopathy (CAR), 120 Carbohydrate-deficient glycoprotein syndromes, 426 Carbon monoxide, 234

Cat scratch disease, 130–131 Cavernous angiomas, 556 Cavernous sinus lesions, 528 Cerebellar astrocytoma, 531–532 Cerebellar malformations

cerebellar hypoplasia, 570 Lhermitte–Duclos disease, 572 molar tooth malformation, 571 rhombencephalosynapsis, 571

Cerebral dysgenesis and intracranial malformations, 555–556 Cerebral palsy, 310

Cerebral venous thrombosis (CVT), 558–559 Cerebroretinal vasculopathies, 573 Cerebrotendinous xanthomatosis, 482 Charcot–Marie–Tooth diseases, 186–187 Charles Bonnet syndrome, 230–231 Chediak–Higashi syndrome, 395

Chiari I malformation, 543–545 Chiari II malformation, 545–547 Chiari III malformation, 547 Chiasmal glioma, 506–509

Chronic infantile neurological cutaneous articular (CINCA), 121 Chronic progressive external ophthalmoplegia (CPEO), 326–328,

489–490 Ciancia syndrome, 415

Circadian timing systems, total blindness circadian rhythms, 43

components, 43 melanopsin, 44–45 melatonin, 44

Cobalamin C methylmalonic aciduria, 427 Cockayne syndrome, 480–481

Coloboma

disc excavation, 71–73 gene mutation, 75

vs. morning glory disc anomaly, 73–75 Colocephaly, 561–562

Combined hamartomas of the retina and retinal pigment epithelium (CHRPE), 123

Complicated migraine syndromes, 217–223 Congenital bilateral mydriasis, 362 Congenital corneal anesthesia, 572 Congenital cranial dysinnervation syndromes

congenital fibrosis syndrome, 344–346 congenital horizontal gaze palsy, 347 congenital ptosis, 343

Marcus Gunn jaw winking (MGJW) synkinesis, 343–344 Möbius sequence, 347–348

Congenital downbeat nystagmus, 418–419 Congenital esotropia

congenital downbeat nystagmus, 418–419

congenital vs. acquired seesaw nystagmus, 420–421 hereditary vertical nystagmus, 419

horizontal nystagmus, 414 latent nystagmus

Alexander’s law, 414 Ciancia syndrome, 415

eye movement recordings, 416 nasotemporal asymmetry, 414 treatment, 416–417

nystagmus blockage syndrome, 417 pendular vs. Jerk seesaw nystagmus, 421 periodic alternating nystagmus, 419–420 saccadic oscillations

convergence-retraction nystagmus, 421 opsoclonus and ocular flutter, 421–423

seesaw nystagmus, 420 torsional nystagmus, 413 upbeating nystagmus, 417 vertical nystagmus, 417

Congenital fibrosis syndrome, 344–346 Congenital homonymous hemianopia, 451–452

asymmetric involvement, 37 exotropic deviation, 37 head turn, 37

lesions, 36

modified perimetric technique, 38 pupillary defect, 37

saccadic strategy, 37 Sturge–Weber syndrome, 36 transsynaptic degeneration, 36–37

Congenital horizontal gaze palsy, 347 Congenital hypomelanotic disorders, 394 Congenital myasthenic syndromes, 329–331 Congenital ocular motor apraxia

aprataxin mutations, 321 Arima syndrome, 323 episodic tachpynea, 322

generalized neurological disorder, 321 head nodding, 459

head thrusts, 320–321 idiopathic form, 319 intermittent saccadic failure, 319 Joubert syndrome, 322–323 neurologic head turns, 452 neurometabolic causes, 321 opsoclonus/myoclonus, 459 saccadic failure, 319

Congenital optic disc anomalies Aicardi syndrome, 83–85 albinotic optic disc, 89 clinical axioms, 59

congenital optic disc pigmentation, 81–83 congenital tilted disc syndrome, 79–81 excavated optic disc anomalies, 67 megalopapilla

glaucoma, 76 phenotypic variants, 75

morning glory disc anomaly

computed tomography (CT) scan, 68, 69 contractile movements, 70, 72 embryogenesis, 70–71

PHACE syndrome, 70, 72 retinal detachments, 70

transsphenoidal encephalocele, 69, 70 myelinated nerve fibers, 87–88

optic disc

coloboma, 71–75 doubling, 85–86 dysplasia, 81, 82

optic nerve aplasia, 86–87 optic nerve hypoplasia

amblyopia, 61 black optic disc, 60

CNS abnormalities, 61–64 disc size, 61

endocrinologic abnormality, 61 histopathology, 60 hypothyroidism, 62 microdisc, diagnosis, 61 prevalence, 59

pseudo-normal optic disc, 60 refractive errors, 61

retinal venous tortousity, 60

RPE and choroid, nasal pallor and extension, 60 systemic and teratogenic associations, 59–60 visual acuity, 60

optic pit

vs. colobomas, 78 intraretinal fluid, 78

laser photocoagulation, 78 serous macular detachment, 77

papillorenal syndrome, 78–79 peripapillary staphyloma, 75 segmental optic nerve hypoplasia

CNS injuries, 67 embryogenesis, 65–67 genetic mutations, 67 mitochondrial disease, 67

periventricular leukomalacia, 65, 68 retrogeniculate lesions, 65, 66

superior segmental optic hypoplasia, 64–65 Congenital optic disc pigmentation, 81–83 Congenital optic nerve disorders, 10

Congenital ptosis, 343, 357–358 Congenital retinal dystrophies achromatopsia, 400–401

blue cone monochromatism, 401–402 cone dystrophies, 400

leber congenital amaurosis, 402

Congenital stationary night blindness (CSNB), 10, 402–404 Congenital tilted disc syndrome, 79–81

Congenital nystagmus, 456–457 Convergence-retraction nystagmus, 421 Conversion disorder, 242

Corpus callosum, agenesis, 61, 64, 67, 69, 83, 84, 540, 541, 564–567, 570, 574

Cortical visual insufficiency (CVI) blindness proportion, 11 blindsight

Balint syndrome, 42 extrageniculostriate system, 41, 42 medial temporal cortex (MT), 42 Riddoch phenomenon, 41

type I and II, 41 causes

cerebral malformations, 13–15 head trauma, 14–16

herpes simplex infection, 16, 17 hydrocephalus, 16–18 meningitis, 16

metabolic and neurodegenerative causes, 16 perinatal hypoxia–ischemia, 12–13

postnatal hypoxia–ischemia, 13 seizures, 18–19

sepsis, 16, 17 twin pregnancy, 16

ventricular shunt failure, 17–18 cerebral palsy

athetosis, 20

birth injuries, 20–21 classifications, 20 dystonia, 20 hypertonia, 20

mixed motor disorders, 19 periventricular leukomalacia, 21 risk factors, 21

spastic quadriplegia, 21 cerebral visual loss, 11 classic features, 12 cortical blindness, 11

diagnostic and prognostic considerations, 25–27 hemianopic visual field defects (see Congenital

homonymous hemianopia) in children, 452

injury patterns, 11 neuro-ophthalmologic signs

anterior visual pathway dysfunction, 23 band atrophy, 25

congenital nystagmus, 23

horizontal conjugate gaze deviation, 23 optic atrophy, 23

transsynaptic degeneration, 24–25 subcortical visual loss, 11

visual function characteristics color identification, 22 light gazing, 22 photophobia, 22 variabilities, 21–22 visual acuity, 21

Cranial nerve palsy. See Ocular motor nerve palsies Craniocervical arterial dissection, 557 Craniopharyngioma, 164–166

Craniosynostosis syndromes, 116–117, 167, 311–312

Cyclic esotropia, 353–354

Cyclic, periodic/aperiodic disorders cyclic esotropia, 353–354

periodic alternating gaze deviation (PAGD), 354–356 periodic alternating skew deviation, 354

Cyanotic congenital heart disease, 116 Cysticercosis, 118–119

D

Dandy–Walker malformation, 547–548 Delayed visual maturation (DVM)

classification, 39

congenital ocular motor apraxia, 40–41 delayed myelination, 40 developmental problems, 40

optic disc appearance, 39–40

organic amblyopia and visual improvement, 39 structural cerebral abnormalities, 38–39 synapse maturation, 38

thalamic lesions, 40

vision, developmental aspects, 38

Delleman (Oculocerebrocutaneous) syndrome, 574 Dermoids, 537–538

Destructive brain lesions colpocephaly, 561–562 encephalomalacia, 560–561 hydranencephaly, 560, 561 porencephaly, 560

Devic disease, 126–127 Diabetic papillopathy, 111–112 Diffuse ophthalmoplegia

chronic progressive external ophthalmoplegia (CPEO), 326–328 congenital myasthenic syndromes, 329–331

juvenile myasthenia, 331–335 myasthenia gravis, 328–335

transient neonatal myasthenia gravis, 328–329 Wernicke encephalopathy, 338

Diffuse unilateral subacute neuroretinitis (DUSN), 131–132 Dissociated vertical divergence (DVD), 448–449 Dominant optic atrophy (Kjer type), 172–174

Double elevator palsy, 348–350 Down syndrome, 140, 426, 450 Duane retraction syndrome

classification, 290–291 embryogenesis, 291 etiology, 290 genetics, 286

lateral rectus muscle

rare variants, 289–290 synergistic divergence, 288–289

upshoots and downshoots, 286–287 Y/l pattern, 287–288

surgical treatment

bilateral Duane syndrome, 293 esotropia, 292

exotropia, 293 systemic associations, 290

Dysgerminoma, 166–167

E

Empty sella syndrome, 568 Encephalitis, 16 Encephaloceles

frontoethmoidal encephalocele, 570 occipital encephalocele, 569 orbital encephalocele, 569

transsphenoidal encephalocele, 11–12, 569 Encephalocraniocutaneous lipomatosis, 574 Encephalotrigeminal angiomatosis. See Sturge–Weber syndrome Endoscopic third ventriculostomy (ETV), 553

Enzyme replacement therapy, 493 Ependymoma, 532–533 Epidermoids, 537–538

Epilepsy, 221–227 Epileptic nystagmus, 427 Epiphora, 449 Esotropia, 29

Evoked saccadic techniques, 37 Excavated optic disc anomalies, 67 Excessive blinking in children, 358–359 Exercise-induced diplopia, 314

Eye movement tics, 357 Eyelid abnormalities

congenital ptosis, 357–358 excessive blinking, 358–359 eyelid opening apraxia, 362 eyelid retraction, 360–362 hemifacial spasm, 360

Eyelid retraction, 360–362

F

Facial telangiectasia, 518

Familial vestibulocerebellar disorder, 427 Fibrous dysplasia, 167–168

Fisher syndrome, 337–338 Fluorescein angiography, 516 Focal cortical dysplasia, 567–568 Francois syndrome, 505 Fukuyama congenital muscular

dystrophy, 565

G

Gangliogliomas, 529

Ganglioneuromas, 529 Gaucher disease, 473–474 Gene therapy, 493 Gliomatosis cerebri, 107, 538

Glycosylation congenital disorders, 493 GM2 type I, 471–472

GM2 type II, 472

Goldenhar syndrome, 573–574 Gray matter heterotopia, 565

H

Haltia–Santavuori disease, 426, 469 Hamartin, 513–514

Head nodding

autism and benign essential tremor, 458 bobble-headed doll syndrome, 457–458 cerebellar disease, 458

congenital ocular motor apraxia, 459 congenital nystagmus, 456–457 genetic syndromes, 457

infantile spasms, 458–459 neurodegenerative disorders and metabolic

defects, 457

paroxysmal dystonic head tremor, 458 spasmus nutans, 456

Head nystagmus, 455 Head posture, 443 Head tilts

congenital nystagmus, 447

dissociated vertical divergence, 448–449 Down syndrome, 450

noncomitant strabismus, 445–446 ocular tilt reaction, 449 paroxysmal torticollis, 447–448 photophobia and epiphora, 449 spasmodic torticollis, 450 spasmus nutans, 447

synostotic plagiocephaly, 446–447 Head trauma, 14–16

Head turns, 450–452 congenital homonymous

hemianopia, 451–452 congenital ocular motor apraxia, 452 cortical visual insufficiency, 452 incomitant strabismus, 445–446 nystagmus, 455–459

seizures, 452 Hemianopia, 37

Hemianopic visual field defects (see Congenital homonymous hemianopia)

Hemifacial spasm, 360 Hemimegalencephaly, 523

Hemispheric tumors astrocytomas, 529

gangliogliomas and ganglioneuromas, 529

primitive neuroectodermal tumors (PNETs), 529–530 supratentorial ependymomas, 529

Hereditary optic atrophy, 169–172 Hereditary retinal disorders

Joubert syndrome (see Joubert syndrome)

Leber congenital amaurosis (LCA) (see Leber congenital amaurosis (LCA))

Hereditary vertical nystagmus, 419 Holoprosencephaly, 566–567 Homocystinuria, 427, 487 Horizontal gaze palsy

causes, 318–319

congenital bilateral paralysis, 319

paramedian pontine reticular formation (PPRF), 318–319

pontine glioma, 319–320 Horizontal nystagmus, 414 Horner syndrome, 364–366 Hunter syndrome, 475 Hurler syndrome, 474–475 Hydranencephaly, 560 Hydrocephalus, 169

arrested hydrocephalus, 540 cerebrospinal fluid (CSF), 539–540 clinical features, 548–549 common causes, 537

aqueductal stenosis, 541–542 Chiari I malformation, 543–545 Chiari II malformation, 545–547 Chiari III malformation, 547

congenital, genetic, and sporadic disorders, 548 Dandy–Walker malformation, 547–548 intracranial hemorrhage, 542–543

intracranial infections, 543 tumors, 541

communicating hydrocephalus, 540 dorsal midbrain syndrome, 550–551

effects and complications, treatment, 551–553 noncommunicating and normal-pressure hydrocephalus, 540 ocular motility disorders, 549–550

visual loss, 551 Hypertonia, 20

Hypnagogic hallucinations, 231 Hypothalamic–pituitary axis

empty sella syndrome, 568 encephaloceles

frontoethmoidal encephalocele, 570 occipital and orbital encephaloceles, 569–570 transsphenoidal encephalocele, 569, 570

posterior pituitary ectopia, 568 Hypothyroidism, 426

I

Idiopathic intracranial hypertension (IIH). See also Swollen optic disc

atypical IIH, 108 childhood IIH, 108 Dandy criteria, 101 neuroimaging, 102–104 pathophysiology, 101–102 primary IIH, 104 prognosis

intrinsic optic disc tumors, 122–123

neurological disease, 110–111 systemic disease, 111–120

secondary IIH

Addison disease, 107

bone marrow transplantation, 107 gliomatosis cerebri, 107 malnutrition, 106

neurological disease, 104–106 postinfectious stage, 108 renal transplantation, 107 severe anemia, 106–107 sleep apnea, 107–108

systemic lupus erythematosis, 108 treatment, 109

Idiopathic nystagmus, 339

Idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome, 132

Immotile cilia syndrome, 548 Incomitant strabismus, 450–451 Incontinentia pigmenti, 574–575

Infantile malignant osteopetrosis, 119–120 Infantile neuroaxonal dystrophy, 426 Infantile nystagmus, 384–409, 451–457

abnormal cross-talk, defective sensory system, 383 artificial divergence surgery, 409–410

causation theories, 393–394 clinical features, 384–385 contrast sensitivity, 393 electroretinography (ERG), 388

ERG, 388eye movement recordings, 389–393 fixation, 389–390

hemispheric visual evoked potentials, 388 history, 386

medical treatment, 405 neuroimaging studies, 404

ocular stabilization systems, 392–393 onset, 385

optical treatment, 405 oscillopsia suppression, 392 pattern detection thresholds, 393 physical examination, 386–388

rectus muscle recession, acuity improvement, 409 saccadic system, 392

smooth pursuit system, 390–391 spasmus nutans, 410–412 strabismus, 389

surgical treatment

torticollis improvement, 405–408 vision improvement, 408

tenotomy, 408–409 terminology, 385–386

vestibulo-ocular reflex (VOR), 391 visual disorder precipitation

achiasmia, 398–400 albinism, 388, 394–398

congenital retinal dystrophies, 400–402 isolated foveal hypoplasia, 400

Intermittent esotropia, 459

Internuclear ophthalmoplegia (INO), 352–353 Intracranial aneurysms, 556

Intracranial tumor treatment complications, 538–539

Intraventricular hemorrhage (IVH), 34–35 Intrinsic optic disc tumors, 122–123 Ischemic optic neuropathy, 132–133 Isolated foveal hypoplasia, 400

Isolated venous ectasia, 557

J

Jansky–Bielschowsky disease, 469

Joubert syndrome, 322–323, 355, 360, 425–426 vs. Arima syndrome, 9

cerebellar vermis, agenesis, 9 clinical features, 9, 10 dysgenesis/ hypoplasia, 9 eye findings, 9

genetics, 9

MR imaging, 10

ocular motor disorders, 9 Juvenile myasthenia, 331–335

Juvenile neuronal ceroid lipofuscinose. See Batten disease

K

Kawasaki disease, 121

Kearns–Sayre syndrome, 487, 489, 491 Kenny syndrome, 142

Kinsbourne encephalitis, 422 Klippel–Trenauney–Weber syndrome, 523–525 Knudson two-hit hypothesis, 503

Krabbe disease, 479

Krabbe’s infantile leukodystrophy, 181

L

Labyrinthine fistula, 459 Latent nystagmus, 313

Alexander’s law, 414 Ciancia syndrome, 415

eye movement recordings, 416 nasotemporal asymmetry, 414 treatment, 416–417

Leber congenital amaurosis (LCA), 402 clinical features, 6

ERG, 8–9

fundus appearance, 6–7 genes, 9

MR imaging, 8

neuroimaging abnormalities, 8 neurologic disease, 7

optic discs, 7

peroxisomal dysfunction, 8 visual improvement, 7

Leber hereditary optic neuropathy (LHON), 142 cardiac abnormalities, 175

DNA (mtDNA) mutations, 175–177 misdiagnosis, 175

recessively inherited optic atrophy, 177 Leber idiopathic stellate neuroretinitis

vs. anterior optic neuritis, 129–130 cat scratch disease, 130–131

diffuse unilateral subacute neuroretinitis (DUSN), 131–132

idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome, 132

infectious causes, 131 lyme disease, 131

macular star-shaped exudates, 129–130 medical evaluation, 131

posterior ischemic optic neuropathy (PION), 133 posterior scleritis, 131

retinal ischemia, 132 unilateral visual loss, 129–130

vitritis and macular star, 129–130

Leigh disease, 181

Leigh subacute necrotizing encephalomyelopathy, 425, 490–492

Leukemia, 414–415 Lhermitte–Duclos disease, 572 Lilliputian hallucinations, 231

Linear nevus sebaceous syndrome, 142, 523–524 Lisch nodules, 505–506

Lissencephaly, 563–565 Lysosomal diseases

gangliosidoses

Gaucher disease, 473–474 GM2 type I, 471–472

GM2 type II and type III, 472 Niemann–Pick disease, 472–473

mucopolysaccharidoses, 474–476 sialidosis, 476

M

Macrocephaly, 509 Malaria, 120

Malignant hypertension, 112

Maple syrup urine disease, 426–427, 486–487

Marcus Gunn jaw winking (MGJW) synkinesis, 343–344, 350 Maroteaux–Lamy syndrome, 476

Medulloblastoma, 530–531 Megalopapilla

glaucoma, 76

phenotypic variants, 75–76 Meningiomas, 537 Meningitis, 16, 264

Meningoepithelial angiomatosis, 518 Metabolic bypass therapy, 493–494 Metachromatic leukodystrophy, 183, 478 Metastasis, 538

Migraine

amaurosis fugax, 216 complicated migraine syndromes

acute confusional migraine, 217–218 acute hemiplegic migraine, 218 alternating hemiplegia, 218

benign paroxysmal vertigo, 218 cortical function disturbances, 218–219 ophthalmoplegic migraine, 219

OTC deficiency, 218 headache, 217 migraine aura, 214–216

pathophysiology, 219–221

vs. retinal vasospasm, 216–217 Mitochondrial depletion syndrome, 492

Mitochondrial encephalomyelopathies, 326–328, 488–489 Mitochondrial encephalopathy, lactic acidosis, and stroke

(MELAS), 492 Möbius sequence, 319, 347–348 Molar tooth malformation, 571 Molecular chaperone therapy, 493

Monocular elevation deficiency. See Double elevator palsy Monocular nystagmus, 413

Morning glory disc anomaly

computed tomography (CT) scan, 68, 69 contractile movements, 70, 72 embryogenesis, 70–71

PHACE syndrome, 70, 72 retinal detachments, 70

transsphenoidal encephalocele, 69, 70

Morquio syndrome, 475–476 Mucopolysaccharidosis, 142 Muscle recession, 409 Muscle–eye–brain disease, 564–565 Myasthenia gravis

congenital myasthenic syndromes, 329–331 juvenile myasthenia, 331–335

transient neonatal myasthenia, 328–329 Myelinated nerve fibers, 87–88 Myoclonic epilepsy, 492

Myoclonus, 459

N

Nasopharyngeal disorders, 460

Neonatal adrenoleukodystrophy, 182–183 Neonatal leukodystrophy, 182–183 Neonatal opsoclonus, 342

Neonatal strabismus, 339 Neurofibromatosis (NF1)

autosomal dominant disorder, 503 brainstem and cerebellar gliomas, 509 buphthalmos, 505

café au lait spots, 504 cerebrovascular abnormalities, 510 chiasmal glioma, 506–509 choroidal ganglioneuroma, 505 cognitive disability, 510

Francois syndrome, 505

freckling and hyperpigmentation, 504 Lisch nodules, 505–506 macrocephaly, 509

magnetic resonance (MR) imaging, 506

mammalian target of rapamycin (mTOR) pathways, 504 multiple focal hyperintense lesions, 506, 509 nonpulsatile proptosis, 506

optic atrophy, 506

orbital optic glioma, 506–507 plexiform neurofibroma, 504–505

pseudarthrosis and quintessential neurocristopathy, 504 radiotherapy, 509

retinal vascular abnormalities, 506 Schwann cells, 504

tumor suppressor gene, 504 Neurofibromatosis 2 (NF2)

bilateral hearing loss, 510 bilateral schwannomas, 513

bilateral vestibular schwannomas, 510 genotype–phenotype correlation, 511 merlin, protein, 510–511

optic disc glioma, 511

optic nerve sheath meningiomas, 511, 513 posterior subcapsular cataracts, 511

Neurologic esotropia exercise-induced diplopia, 314 near reflex, spasm, 314

Neurologic exotropia, 315–316 Neurologic head turns, 450 Neurological nystagmus, 424–425 Neuromyelitis optica. See Devic disease

Neuronal ceroid lipofuscinoses (NCLs), 184, 469–470 Batten disease, 465–466

diagnosis, 464 Haltia-Santavuori disease, 464

Jansky-Bielschowsky disease, 465 Niemann–Pick disease, 472–473

Noncomitant strabismus, 445–446 Nonmigrainous cerebrovascular disease, 228 Nutritional nystagmus, 427

Nystagmus blockage syndrome, 417

O

Ocular bobbing, 424

Ocular coherence tomography (OCT), 515 Ocular neuromyotonia, 356

Ocular tilt reaction, 449 Ocular torticollis, 444

Oculo-auricular phenomenon, 351

Oculoauriculovertebral dysplasia. See Goldenhar syndrome Ocular motor nerve palsies

abducens nerve palsy (see Sixth nerve palsy) fascicle, 256–257

nucleus, 256 clinical features

isolated divisional oculomotor palsy, 260 isolated inferior oblique muscle palsy, 258–259 isolated inferior rectus muscle palsy, 257, 259 isolated internal ophthalmoplegia, 260 oculomotor nerve synkinesis, 260–261

active force generation test, 254–255

forced duction test and force generation test, 254–255 history, 253–254

oculomotor nerve palsy (see Third nerve palsy) trochlear nerve palsy (see Trochlear nerve palsy)

Olivopontocerebellar atrophy, 336–338 Ophthalmoplegia, 326–339 Opsoclonus, 459

causes and ocular flutter, 421–423 pathophysiology, 423

Optic atrophy, 506

Behr syndrome, 177–178 carboplatin, 189

chiasmal glioma, 156, 157

Cobalamin C methylmalonic acidemia, 185–186 compressive/infiltrative intracranial lesions, 161–162

craniopharyngioma, 164–166 craniosynostoses, 167 dysgerminoma, 166–167 fibrous dysplasia, 167–168 optic glioma, 162–164

optic nerve sheath meningioma, 166 osteopetrosis, 167

pituitary adenoma, 166

congenital optic tract syndrome, 156, 158 DIDMOAD (Wolfram’s syndrome), 178–179 disc color and size, 155

epidemiology, 156–159 hereditary optic neuropathies

classification, 172

dominant optic atrophy, 172–174 genetic syndromes, 170–172 types, 170

hereditary polyneuropathies Charcot–Marie–Tooth diseases, 186–187 mucopolysaccharidoses (MPS), 187 Rosenberg–Chutorian syndrome, 187

histopathology, 155 hydrocephalus, 169, 170 vs. hypoplasia, 160–161 hypoxia–ischemia, 187–188

infantile neuroaxonal dystrophy, 184

Optic atrophy (cont.)

Leber hereditary optic neuropathy (LHON) cardiac abnormalities, 175

DNA (mtDNA) mutations, 175–177 misdiagnosis, 175

recessively inherited optic atrophy, 177 neurodegenerative disorders, 180–181

Canavan disease, 181

Krabbe’s infantile leukodystrophy, 181 metachromatic leukodystrophy, 183 neonatal adrenoleukodystrophy, 182–183 PEHO syndrome, 182 Pelizaeus–Merzbacher disease, 181–182

subacute necrotizing encephalomyelopathy, 181 X-linked adrenoleukodystrophy, 183

noncompressive causes

paraneoplastic syndromes, 168–169 postpapilledema, 168

radiation optic neuropathy, 169 ophthalmoscopic appearance, 155 organic acidurias, 185

pantothenate kinase-associated neurodegeneration familial dysautonomia, 184

neuronal ceroid lipofuscinoses, 184 pediatric patient

ancillary testing, 189–190 clinical examination, 189 medical history, 189

peripapillary nerve fiber layer, 155–156 propionic acidemia, 185

retinal disorders, 159–160

simple recessive optic atrophy, 177 spinocerebellar degenerations, 185–186 toxic/nutritional optic neuropathy, 179–180 traumatic optic atrophy, 188

vigabatrin, 188–189 X-linked optic atrophy, 177

Optic disc coloboma CT scan, 73 gene mutation, 75

macular detachment, 73, 74 ophthalmoscopic appearance, 74

vs. morning glory disc anomaly, 73–75 pathological findings, 73–74 uncategorizable dysplastic optic discs, 74

Optic disc drusen. See Pseudopapilledema Optic disc dysplasia, 81

Optic disc glioma, 123, 511 Optic disc hemangioma, 122 Optic glioma, 162–164 Optic nerve aplasia, 86–87 Optic nerve hypoplasia

amblyopia, 61 black optic disc, 60

CNS abnormalities, 61–64 disc size, 61

endocrinologic abnormality, 61 histopathology, 60 hypothyroidism, 62 microdisc, diagnosis, 61 prevalence, 59

pseudo-normal optic disc, 60 refractive errors, 61

retinal venous tortousity, 60

RPE and choroid, nasal pallor and extension, 60 systemic and teratogenic associations, 59–60 visual acuity, 60

Optic nerve sheath meningioma, 166 Optic neuritis

acute disseminated encephalomyelitis (ADE), 124–125 Devic disease, 126–127

history and physical examination, 124 MS, 125–126

postinfectious optic neuritis, 124 systemic evaluation, 128–129 systemic prognosis, 128 treatment, 129

visual loss and recovery, 127 Orbital hypotelorism, 142 Organic acidurias, 460 Oscillopsia, 383

Osteopetrosis, 167

P

Palinopsia, 231

Pantothenate kinase-associated neurodegeneration (PKAN), 485–486

Papilledema, 555 clinical signs, 98 color vision, 99–100

fluorescein angiogram, 98, 99

idiopathic intracranial hypertension (see Idiopathic intracranial hypertension)

tumors, 100–101

visual field defects, 98–99 Papillorenal syndrome, 78–79 Paraneoplastic opsoclonus, 422 Paraneoplastic syndromes, 168–169 Paroxysmal choreoathetosis, 450 Paroxysmal dystonia, 450 Paroxysmal dystonic head tremor, 458 Paroxysmal torticollis, 447–448 Pearson syndrome, 328

Peduncular hallucinosis, 231 PEHO syndrome, 182

Pelizaeus–Merzbacher disease, 181–182, 425, 457, 479–480 Perinatal hypoxia-ischemia, 12–13

Periodic alternating gaze deviation (PAGD), 354 Periodic alternating nystagmus, 419–420 Periodic alternating skew deviation, 354 Peripapillary staphyloma, 75

Periventricular leukomalacia (PVL) intraventricular hemorrhage, 34–35 pathophysiology, 33–34 perceptual difficulties, 30–33 preterm injury, 27

Peroxisomal disorders adrenoleukodystrophy (ALD), 483–485 Zellweger hepatorenal syndrome, 483

PHACE syndrome, 70, 72, 573 Phakomatosis, 503 Photophobia, 449

Pineal region tumors, 536–537 Pituitary adenomas, 166, 528 Plexiform neurofibroma, 504–505 Polymicrogyria, 565–566 Pontine glioma, 284 Porencephaly, 560

Posterior fossa tumors brainstem tumors, 533–536

cerebellar astrocytoma, 531–532 ependymoma, 532–533 medulloblastoma, 530–531

Swollen optic disc, 97–142

Leber idiopathic stellate neuroretinitis

anterior ischemic optic neuropathy (AION), 132–133 vs. anterior optic neuritis, 129–130

autoimmune optic neuropathy, 133 cat scratch disease, 130–131

diffuse unilateral subacute neuroretinitis (DUSN), 131–132 idiopathic retinal vasculitis, aneurysms, and neuroretinitis

(IRVAN) syndrome, 132 infectious causes, 131 lyme disease, 131

macular star-shaped exudates, 129–130 medical evaluation, 131

posterior ischemic optic neuropathy (PION), 133 posterior scleritis, 131

retinal ischemia, 132 unilateral visual loss, 129–130

vitritis and macular star, 129–130 neurological disease

hydrocephalus, 110 neurofibromatosis, 110 spinal cord tumors, 110–111

subacute sclerosing panencephalitis (SSPE), 111 optic neuritis

acute disseminated encephalomyelitis (ADE), 124–125 Devic disease, 126–127

history and physical examination, 124 MS, 125–126

postinfectious optic neuritis, 124 systemic evaluation, 128–129 systemic prognosis, 128 treatment, 129

visual loss and recovery, 127 papilledema

clinical signs, 98 color vision, 99–100

fluorescein angiogram, 98, 99

idiopathic intracranial hypertension (see Idiopathic intracranial hypertension)

tumors, 100–101

visual field defects, 98–99 pseudopapilledema (see Pseudopapilledema) retrobulbar tumors, 123–124

systemic disease

Blau syndrome, 120–121

chronic infantile neurological cutaneous articular (CINCA), 121

craniosynostosis syndromes, 116–117 cyanotic congenital heart disease, 116 cysticercosis, 118–119

diabetic papillopathy, 111–112

infantile malignant osteopetrosis, 119–120 Kawasaki disease,121

leukemia, 114–115 malaria, 120

malignant hypertension, 112 mucopolysaccharidosis, 119 paraneoplastic optic disc edema, 120 poststreptococal uveitis, 122 posttraumatic optic disc swelling, 121–122 sarcoidosis, 112–114

shaken baby syndrome, 117–118 uveitis, 120–121

Synostotic plagiocephaly, 446–447 Systemic disease

Blau syndrome, 120–121

chronic infantile neurological cutaneous articular (CINCA), 121

craniosynostosis syndromes, 116–117 cyanotic congenital heart disease, 116 cysticercosis, 118–119

diabetic papillopathy, 111–112

infantile malignant osteopetrosis, 119–120 Kawasaki disease,121

leukemia, 114–115 malaria, 120

malignant hypertension, 112 mucopolysaccharidosis, 119 paraneoplastic optic disc edema, 120 poststreptococal uveitis, 122 posttraumatic optic disc swelling, 121–122 sarcoidosis, 112–114

shaken baby syndrome, 117–118 uveitis, 120–121

Systemic lupus erythematosis, 107 Systemic disorders

aortic regurgitation, 459–460

cobalamin C methylmalonic aciduria and homocystinuria, 427

Down syndrome, 426

endocrine and metabolic disturbances, 460 epileptic nystagmus, 427

hypothyroidism, 427

maple syrup urine disease, 426–427 nasopharyngeal disorders, 460 nutritional nystagmus, 427

organic acidurias, 460

T

Tay–Sachs disease. See GM2 type I Third nerve palsy

acquired oculomotor nerve palsy cryptogenic third nerve palsy, 266 inflammatory causes, 267 meningitis, 264

neoplastic causes, 267 ophthalmoplegic migraine, 264–266 recurrent isolated third nerve palsy, 266

Transient unilateral oculomotor nerve palsy, 267 traumatic third nerve palsy, 263–264

vascular causes, 266 clinical anatomy

fascicle, 256–257 nucleus, 256

clinical features

isolated divisional oculomotor palsy, 260 isolated inferior oblique muscle palsy, 258–259 isolated inferior rectus muscle palsy, 257, 259 isolated internal ophthalmoplegia, 260 oculomotor nerve synkinesis, 260–261

congenital third nerve palsies amblyopia, 263

cyclic oculomotor palsy, 263

left oculomotor nerve palsy,262, 263 PHACE syndrome, 263

unusual facial-oculomotor synkinesis, 261, 262 differential diagnosis

congenital fibrosis of the extraocular muscles (CFEOM), 267–268

internuclear ophthalmoplegia, 268 myasthenia gravis, 267

Vertical gaze palsies (cont.) supranuclear, 323–324 upgaze palsy, 325–326

Vertical head postures, 452–453 Vertical nystagmus, 417–419 Vestibular schwannomas, 512

Vigabitrin-associated visual field loss, 227 Visual disorders

achiasmia, 398–400 albinism, 394–398

congenital retinal dystrophies, 400–402 isolated foveal hypoplasia, 400 rod-cone dystrophies, 402–404

Visual loss, unexplained causes

cornea, 236

refractive abnormalities, 236

transient amblyogenic factors, 235–236 optic nerve, 237–238

retina, 236–237 Visuovestibular disorders, 311–313 Voluntary nystagmus, 423–424 von Hippel–Lindau disease

2A phenotype, 521

cerebellar hemangioblastomas, 520 inheritance, 519

low spontaneous mutation rate, 520 renal carcinoma, 521

retinal capillary hemangiomas, 520 types 1 and 2B, 521

vanillylmandelic acid (VMA), 521 VHL gene, 520

W

Walker–Warburg syndrome, 564 Wegener granulomatosis, 338 Wernicke encephalopathy, 338 White matter disorders

Alexander disease, 481 Canavan disease, 478–479

cerebrotendinous xanthomatosis, 482 Cockayne syndrome, 480–481 Krabbe disease, 479

metachromatic leukodystrophy, 478 Pelizeus–Merzbacher disease, 479–480 Sjögren–Larsson syndrome, 481–482

Wildervanck syndrome, 574–575 Wilson disease, 486

Wolfram syndrome, 178–179

X

X-linked adrenoleukodystrophy, 183 X-linked optic atrophy, 177

Z

Zellweger hepatorenal syndrome, 483 Zinc finger transcription factor, 396–398