597

AAbducens nerve palsy. See Sixth nerve palsyAbetalipoproteinemia, 487–488Abnormal neuronal migration

gray matter heterotopia, 565lissencephaly, 563–565

Abnormal stem cell proliferation/apoptosishemimegalencephaly, 562schizencephaly, 562

Accommodative paresis, 362Achiasmia, 398–400Achromatopsia, 10, 400–401Acute disseminated encephalomyelitis (ADE), 124–125Addison disease, 107Addison–Schilder disease. See X-linked adrenoleukodystrophyAdenoma sebaceum, 514–515Adie syndrome

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

Adrenoleukodystrophy (ALD), 483–485Aicardi syndrome, 83–85Alagille syndrome, 140–142Albinism

Chediak–Higashi syndrome, 395congenital hypomelanotic disorders, 394diffuse hypopigmentation, 395hemispheric visual evoked potentials, 397–398optic axon distribution, 396P gene mutations, 397pigmentation and axonal migration, 394positive angle kappa, 395–396Prader–Willi syndrome, 397zinc finger transcription factor, 396–397

Albinoidism, 395Albinotic optic disc, 89Alice in Wonderland syndrome, 230Alström syndrome, 402

Alexander disease, 481Amblyopia, 263Anterior ischemic optic neuropathy (AION), 132–133Apraxia of eyelid opening, 362Arachnoid cysts, 528Arima syndrome, 323Arteriovenous malformation (AVM)

natural history and clinical features, 554spontaneous intracranial hemorrhage, 553treatment, 554–556

Artificial divergence surgery, 409–410

Astrocytomas, 529Ataxia telangiectasia

autosomal recessive neurocutaneous disease, 521breakage syndromes, 522cerebellar hemispheric atrophy, 522–523conjunctival telangiectasis, 522MRE11, mutation, 523ocular motor apraxia and palpebral fissure, 522progressive cerebellar ataxia, 522

Athetosis, 20Atropine (anticholinergic drugs), 233–234Autoimmune optic neuropathy, 133

BBalint syndrome, 42Basal ganglia disease

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

Batten disease, 160, 184, 469–470Behr syndrome, 177–178Benign paroxysmal torticollis, 447–448Bickerstaff’ brainstem encephalitis, 338Bilateral schwannomas, 513Bizarre retinochoroidal defect, 512Blau syndrome, 120–121Blindness, 459Blindness, in infancy

congenital causesoptic nerve disorders, 10retinal blindness, 4–5stationary night blindness, 10

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

diagnostic algorithm, 1, 2hereditary retinal disorders

Joubert syndrome (see Joubert syndrome)Leber congenital amaurosis (LCA) (see Leber congenital

amaurosis (LCA))infantile nystagmus

dynamic vestibulo-ocular reflex, 5neurological diseases, 5photophobia, 3–4pupillary examination, 3unequal nystagmus test, 6visual evoked potential (VEP), 6

Bloch–Sulzberger syndrome. See Incontinentia pigmentiBlue cone monochromatism, 401–402Bobble-headed doll syndrome, 457–458Bonnet–Dechaume–Blanc syndrome, 555Botulism, 336–337

Index

598 Index

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

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

CCafé au lait spots, 504Cardiogenic embolism, 227–228Canavan disease, 181, 478–479Cancer-associated retinopathy (CAR), 120Carbohydrate-deficient glycoprotein syndromes, 426Carbon monoxide, 234Cat scratch disease, 130–131Cavernous angiomas, 556Cavernous sinus lesions, 528Cerebellar astrocytoma, 531–532Cerebellar malformations

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

Cerebral dysgenesis and intracranial malformations, 555–556Cerebral palsy, 310Cerebral venous thrombosis (CVT), 558–559Cerebroretinal vasculopathies, 573Cerebrotendinous xanthomatosis, 482Charcot–Marie–Tooth diseases, 186–187Charles Bonnet syndrome, 230–231Chediak–Higashi syndrome, 395Chiari I malformation, 543–545Chiari II malformation, 545–547Chiari III malformation, 547Chiasmal glioma, 506–509Chronic infantile neurological cutaneous articular (CINCA), 121Chronic progressive external ophthalmoplegia (CPEO), 326–328,

489–490Ciancia syndrome, 415Circadian timing systems, total blindness

circadian rhythms, 43components, 43melanopsin, 44–45melatonin, 44

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

disc excavation, 71–73gene mutation, 75vs. morning glory disc anomaly, 73–75

Colocephaly, 561–562Combined hamartomas of the retina and retinal pigment epithelium

(CHRPE), 123Complicated migraine syndromes, 217–223Congenital bilateral mydriasis, 362Congenital corneal anesthesia, 572Congenital cranial dysinnervation syndromes

congenital fibrosis syndrome, 344–346congenital horizontal gaze palsy, 347congenital ptosis, 343Marcus Gunn jaw winking (MGJW) synkinesis, 343–344Möbius sequence, 347–348

Congenital downbeat nystagmus, 418–419Congenital esotropia

congenital downbeat nystagmus, 418–419

congenital vs. acquired seesaw nystagmus, 420–421hereditary vertical nystagmus, 419horizontal nystagmus, 414latent nystagmus

Alexander’s law, 414Ciancia syndrome, 415eye movement recordings, 416nasotemporal asymmetry, 414treatment, 416–417

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

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

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

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

asymmetric involvement, 37exotropic deviation, 37head turn, 37lesions, 36modified perimetric technique, 38pupillary defect, 37saccadic strategy, 37Sturge–Weber syndrome, 36transsynaptic degeneration, 36–37

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

aprataxin mutations, 321Arima syndrome, 323episodic tachpynea, 322generalized neurological disorder, 321head nodding, 459head thrusts, 320–321idiopathic form, 319intermittent saccadic failure, 319Joubert syndrome, 322–323neurologic head turns, 452neurometabolic causes, 321opsoclonus/myoclonus, 459saccadic failure, 319

Congenital optic disc anomaliesAicardi syndrome, 83–85albinotic optic disc, 89clinical axioms, 59congenital optic disc pigmentation, 81–83congenital tilted disc syndrome, 79–81excavated optic disc anomalies, 67megalopapilla

glaucoma, 76phenotypic variants, 75

morning glory disc anomalycomputed tomography (CT) scan, 68, 69contractile movements, 70, 72embryogenesis, 70–71PHACE syndrome, 70, 72retinal detachments, 70transsphenoidal encephalocele, 69, 70

myelinated nerve fibers, 87–88optic disc

599Index

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

optic nerve aplasia, 86–87optic nerve hypoplasia

amblyopia, 61black optic disc, 60CNS abnormalities, 61–64disc size, 61endocrinologic abnormality, 61histopathology, 60hypothyroidism, 62microdisc, diagnosis, 61prevalence, 59pseudo-normal optic disc, 60refractive errors, 61retinal venous tortousity, 60RPE and choroid, nasal pallor and extension, 60systemic and teratogenic associations, 59–60visual acuity, 60

optic pitvs. colobomas, 78intraretinal fluid, 78laser photocoagulation, 78serous macular detachment, 77

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

CNS injuries, 67embryogenesis, 65–67genetic mutations, 67mitochondrial disease, 67periventricular leukomalacia, 65, 68retrogeniculate lesions, 65, 66superior segmental optic hypoplasia, 64–65

Congenital optic disc pigmentation, 81–83Congenital optic nerve disorders, 10Congenital ptosis, 343, 357–358Congenital retinal dystrophies

achromatopsia, 400–401blue cone monochromatism, 401–402cone dystrophies, 400leber congenital amaurosis, 402

Congenital stationary night blindness (CSNB), 10, 402–404Congenital tilted disc syndrome, 79–81Congenital nystagmus, 456–457Convergence-retraction nystagmus, 421Conversion disorder, 242Corpus callosum, agenesis, 61, 64, 67, 69, 83, 84, 540, 541,

564–567, 570, 574Cortical visual insufficiency (CVI)

blindness proportion, 11blindsight

Balint syndrome, 42extrageniculostriate system, 41, 42medial temporal cortex (MT), 42Riddoch phenomenon, 41type I and II, 41

causescerebral malformations, 13–15head trauma, 14–16herpes simplex infection, 16, 17hydrocephalus, 16–18meningitis, 16metabolic and neurodegenerative causes, 16perinatal hypoxia–ischemia, 12–13

postnatal hypoxia–ischemia, 13seizures, 18–19sepsis, 16, 17twin pregnancy, 16ventricular shunt failure, 17–18

cerebral palsyathetosis, 20birth injuries, 20–21classifications, 20dystonia, 20hypertonia, 20mixed motor disorders, 19periventricular leukomalacia, 21risk factors, 21spastic quadriplegia, 21

cerebral visual loss, 11classic features, 12cortical blindness, 11diagnostic and prognostic considerations, 25–27hemianopic visual field defects (see Congenital

homonymous hemianopia)in children, 452injury patterns, 11neuro-ophthalmologic signs

anterior visual pathway dysfunction, 23band atrophy, 25congenital nystagmus, 23horizontal conjugate gaze deviation, 23optic atrophy, 23transsynaptic degeneration, 24–25

subcortical visual loss, 11visual function characteristics

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

Cranial nerve palsy. See Ocular motor nerve palsiesCraniocervical arterial dissection, 557Craniopharyngioma, 164–166Craniosynostosis syndromes, 116–117, 167,

311–312Cyclic esotropia, 353–354Cyclic, periodic/aperiodic disorders

cyclic esotropia, 353–354periodic alternating gaze deviation (PAGD), 354–356periodic alternating skew deviation, 354

Cyanotic congenital heart disease, 116Cysticercosis, 118–119

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

classification, 39congenital ocular motor apraxia, 40–41delayed myelination, 40developmental problems, 40optic disc appearance, 39–40organic amblyopia and visual improvement, 39structural cerebral abnormalities, 38–39synapse maturation, 38thalamic lesions, 40vision, developmental aspects, 38

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

600 Index

Destructive brain lesionscolpocephaly, 561–562encephalomalacia, 560–561hydranencephaly, 560, 561porencephaly, 560

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

chronic progressive external ophthalmoplegia (CPEO), 326–328congenital myasthenic syndromes, 329–331juvenile myasthenia, 331–335myasthenia gravis, 328–335transient neonatal myasthenia gravis, 328–329Wernicke encephalopathy, 338

Diffuse unilateral subacute neuroretinitis (DUSN), 131–132Dissociated vertical divergence (DVD), 448–449Dominant optic atrophy (Kjer type), 172–174Double elevator palsy, 348–350Down syndrome, 140, 426, 450Duane retraction syndrome

classification, 290–291embryogenesis, 291etiology, 290genetics, 286lateral rectus muscle

rare variants, 289–290synergistic divergence, 288–289upshoots and downshoots, 286–287Y/l pattern, 287–288

surgical treatmentbilateral Duane syndrome, 293esotropia, 292exotropia, 293

systemic associations, 290Dysgerminoma, 166–167

EEmpty sella syndrome, 568Encephalitis, 16Encephaloceles

frontoethmoidal encephalocele, 570occipital encephalocele, 569orbital encephalocele, 569transsphenoidal encephalocele, 11–12, 569

Encephalocraniocutaneous lipomatosis, 574Encephalotrigeminal angiomatosis. See Sturge–Weber syndromeEndoscopic third ventriculostomy (ETV), 553Enzyme replacement therapy, 493Ependymoma, 532–533Epidermoids, 537–538Epilepsy, 221–227Epileptic nystagmus, 427Epiphora, 449Esotropia, 29Evoked saccadic techniques, 37Excavated optic disc anomalies, 67Excessive blinking in children, 358–359Exercise-induced diplopia, 314Eye movement tics, 357Eyelid abnormalities

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

Eyelid retraction, 360–362

FFacial telangiectasia, 518Familial vestibulocerebellar disorder, 427Fibrous dysplasia, 167–168Fisher syndrome, 337–338Fluorescein angiography, 516Focal cortical dysplasia, 567–568Francois syndrome, 505Fukuyama congenital muscular

dystrophy, 565

GGangliogliomas, 529Ganglioneuromas, 529Gaucher disease, 473–474Gene therapy, 493Gliomatosis cerebri, 107, 538Glycosylation congenital disorders, 493GM2 type I, 471–472GM2 type II, 472Goldenhar syndrome, 573–574Gray matter heterotopia, 565

HHaltia–Santavuori disease, 426, 469Hamartin, 513–514Head nodding

autism and benign essential tremor, 458bobble-headed doll syndrome, 457–458cerebellar disease, 458congenital ocular motor apraxia, 459congenital nystagmus, 456–457genetic syndromes, 457infantile spasms, 458–459neurodegenerative disorders and metabolic

defects, 457paroxysmal dystonic head tremor, 458spasmus nutans, 456

Head nystagmus, 455Head posture, 443Head tilts

congenital nystagmus, 447dissociated vertical divergence, 448–449Down syndrome, 450noncomitant strabismus, 445–446ocular tilt reaction, 449paroxysmal torticollis, 447–448photophobia and epiphora, 449spasmodic torticollis, 450spasmus nutans, 447synostotic plagiocephaly, 446–447

Head trauma, 14–16Head turns, 450–452

congenital homonymous hemianopia, 451–452

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

Hemianopia, 37Hemianopic visual field defects (see Congenital

homonymous hemianopia)Hemifacial spasm, 360Hemimegalencephaly, 523

601Index

Hemispheric tumorsastrocytomas, 529gangliogliomas and ganglioneuromas, 529primitive neuroectodermal tumors (PNETs), 529–530supratentorial ependymomas, 529

Hereditary optic atrophy, 169–172Hereditary retinal disorders

Joubert syndrome (see Joubert syndrome)Leber congenital amaurosis (LCA) (see Leber congenital

amaurosis (LCA))Hereditary vertical nystagmus, 419Holoprosencephaly, 566–567Homocystinuria, 427, 487Horizontal gaze palsy

causes, 318–319congenital bilateral paralysis, 319paramedian pontine reticular formation (PPRF),

318–319pontine glioma, 319–320

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

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

aqueductal stenosis, 541–542Chiari I malformation, 543–545Chiari II malformation, 545–547Chiari III malformation, 547congenital, genetic, and sporadic disorders, 548Dandy–Walker malformation, 547–548intracranial hemorrhage, 542–543intracranial infections, 543tumors, 541

communicating hydrocephalus, 540dorsal midbrain syndrome, 550–551effects and complications, treatment, 551–553noncommunicating and normal-pressure hydrocephalus, 540ocular motility disorders, 549–550visual loss, 551

Hypertonia, 20Hypnagogic hallucinations, 231Hypothalamic–pituitary axis

empty sella syndrome, 568encephaloceles

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

posterior pituitary ectopia, 568Hypothyroidism, 426

IIdiopathic intracranial hypertension (IIH). See also

Swollen optic discatypical IIH, 108childhood IIH, 108Dandy criteria, 101neuroimaging, 102–104pathophysiology, 101–102primary IIH, 104prognosis

intrinsic optic disc tumors, 122–123

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

secondary IIHAddison disease, 107bone marrow transplantation, 107gliomatosis cerebri, 107malnutrition, 106neurological disease, 104–106postinfectious stage, 108renal transplantation, 107severe anemia, 106–107sleep apnea, 107–108systemic lupus erythematosis, 108

treatment, 109Idiopathic nystagmus, 339Idiopathic retinal vasculitis, aneurysms, and neuroretinitis

(IRVAN) syndrome, 132Immotile cilia syndrome, 548Incomitant strabismus, 450–451Incontinentia pigmenti, 574–575Infantile malignant osteopetrosis, 119–120Infantile neuroaxonal dystrophy, 426Infantile nystagmus, 384–409, 451–457

abnormal cross-talk, defective sensory system, 383artificial divergence surgery, 409–410causation theories, 393–394clinical features, 384–385contrast sensitivity, 393electroretinography (ERG), 388ERG, 388eye movement recordings, 389–393fixation, 389–390hemispheric visual evoked potentials, 388history, 386medical treatment, 405neuroimaging studies, 404ocular stabilization systems, 392–393onset, 385optical treatment, 405oscillopsia suppression, 392pattern detection thresholds, 393physical examination, 386–388rectus muscle recession, acuity improvement, 409saccadic system, 392smooth pursuit system, 390–391spasmus nutans, 410–412strabismus, 389surgical treatment

torticollis improvement, 405–408vision improvement, 408

tenotomy, 408–409terminology, 385–386vestibulo-ocular reflex (VOR), 391visual disorder precipitation

achiasmia, 398–400albinism, 388, 394–398congenital retinal dystrophies, 400–402isolated foveal hypoplasia, 400

Intermittent esotropia, 459Internuclear ophthalmoplegia (INO), 352–353Intracranial aneurysms, 556Intracranial tumor treatment

complications, 538–539Intraventricular hemorrhage (IVH), 34–35Intrinsic optic disc tumors, 122–123Ischemic optic neuropathy, 132–133Isolated foveal hypoplasia, 400Isolated venous ectasia, 557

602 Index

JJansky–Bielschowsky disease, 469Joubert syndrome, 322–323, 355, 360, 425–426

vs. Arima syndrome, 9cerebellar vermis, agenesis, 9clinical features, 9, 10dysgenesis/ hypoplasia, 9eye findings, 9genetics, 9MR imaging, 10ocular motor disorders, 9

Juvenile myasthenia, 331–335Juvenile neuronal ceroid lipofuscinose. See Batten disease

KKawasaki disease, 121Kearns–Sayre syndrome, 487, 489, 491Kenny syndrome, 142Kinsbourne encephalitis, 422Klippel–Trenauney–Weber syndrome, 523–525Knudson two-hit hypothesis, 503Krabbe disease, 479Krabbe’s infantile leukodystrophy, 181

LLabyrinthine fistula, 459Latent nystagmus, 313

Alexander’s law, 414Ciancia syndrome, 415eye movement recordings, 416nasotemporal asymmetry, 414treatment, 416–417

Leber congenital amaurosis (LCA), 402clinical features, 6ERG, 8–9fundus appearance, 6–7genes, 9MR imaging, 8neuroimaging abnormalities, 8neurologic disease, 7optic discs, 7peroxisomal dysfunction, 8visual improvement, 7

Leber hereditary optic neuropathy (LHON), 142cardiac abnormalities, 175DNA (mtDNA) mutations, 175–177misdiagnosis, 175recessively inherited optic atrophy, 177

Leber idiopathic stellate neuroretinitisvs. anterior optic neuritis, 129–130cat scratch disease, 130–131diffuse unilateral subacute neuroretinitis (DUSN),

131–132idiopathic retinal vasculitis, aneurysms, and neuroretinitis

(IRVAN) syndrome, 132infectious causes, 131lyme disease, 131macular star-shaped exudates, 129–130medical evaluation, 131posterior ischemic optic neuropathy (PION), 133posterior scleritis, 131retinal ischemia, 132unilateral visual loss, 129–130vitritis and macular star, 129–130

Leigh disease, 181Leigh subacute necrotizing encephalomyelopathy,

425, 490–492Leukemia, 414–415Lhermitte–Duclos disease, 572Lilliputian hallucinations, 231Linear nevus sebaceous syndrome, 142, 523–524Lisch nodules, 505–506Lissencephaly, 563–565Lysosomal diseases

gangliosidosesGaucher disease, 473–474GM2 type I, 471–472GM2 type II and type III, 472Niemann–Pick disease, 472–473

mucopolysaccharidoses, 474–476sialidosis, 476

MMacrocephaly, 509Malaria, 120Malignant hypertension, 112Maple syrup urine disease, 426–427, 486–487Marcus Gunn jaw winking (MGJW) synkinesis, 343–344, 350Maroteaux–Lamy syndrome, 476Medulloblastoma, 530–531Megalopapilla

glaucoma, 76phenotypic variants, 75–76

Meningiomas, 537Meningitis, 16, 264Meningoepithelial angiomatosis, 518Metabolic bypass therapy, 493–494Metachromatic leukodystrophy, 183, 478Metastasis, 538Migraine

amaurosis fugax, 216complicated migraine syndromes

acute confusional migraine, 217–218acute hemiplegic migraine, 218alternating hemiplegia, 218benign paroxysmal vertigo, 218cortical function disturbances, 218–219ophthalmoplegic migraine, 219OTC deficiency, 218

headache, 217migraine aura, 214–216pathophysiology, 219–221vs. retinal vasospasm, 216–217

Mitochondrial depletion syndrome, 492Mitochondrial encephalomyelopathies, 326–328, 488–489Mitochondrial encephalopathy, lactic acidosis, and stroke

(MELAS), 492Möbius sequence, 319, 347–348Molar tooth malformation, 571Molecular chaperone therapy, 493Monocular elevation deficiency. See Double elevator palsyMonocular nystagmus, 413Morning glory disc anomaly

computed tomography (CT) scan, 68, 69contractile movements, 70, 72embryogenesis, 70–71PHACE syndrome, 70, 72retinal detachments, 70transsphenoidal encephalocele, 69, 70

603Index

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

congenital myasthenic syndromes, 329–331juvenile myasthenia, 331–335transient neonatal myasthenia, 328–329

Myelinated nerve fibers, 87–88Myoclonic epilepsy, 492Myoclonus, 459

NNasopharyngeal disorders, 460Neonatal adrenoleukodystrophy, 182–183Neonatal leukodystrophy, 182–183Neonatal opsoclonus, 342Neonatal strabismus, 339Neurofibromatosis (NF1)

autosomal dominant disorder, 503brainstem and cerebellar gliomas, 509buphthalmos, 505café au lait spots, 504cerebrovascular abnormalities, 510chiasmal glioma, 506–509choroidal ganglioneuroma, 505cognitive disability, 510Francois syndrome, 505freckling and hyperpigmentation, 504Lisch nodules, 505–506macrocephaly, 509magnetic resonance (MR) imaging, 506mammalian target of rapamycin (mTOR) pathways, 504multiple focal hyperintense lesions, 506, 509nonpulsatile proptosis, 506optic atrophy, 506orbital optic glioma, 506–507plexiform neurofibroma, 504–505pseudarthrosis and quintessential neurocristopathy, 504radiotherapy, 509retinal vascular abnormalities, 506Schwann cells, 504tumor suppressor gene, 504

Neurofibromatosis 2 (NF2)bilateral hearing loss, 510bilateral schwannomas, 513bilateral vestibular schwannomas, 510genotype–phenotype correlation, 511merlin, protein, 510–511optic disc glioma, 511optic nerve sheath meningiomas, 511, 513posterior subcapsular cataracts, 511

Neurologic esotropiaexercise-induced diplopia, 314near reflex, spasm, 314

Neurologic exotropia, 315–316Neurologic head turns, 450Neurological nystagmus, 424–425Neuromyelitis optica. See Devic diseaseNeuronal ceroid lipofuscinoses (NCLs), 184, 469–470

Batten disease, 465–466diagnosis, 464Haltia-Santavuori disease, 464Jansky-Bielschowsky disease, 465

Niemann–Pick disease, 472–473

Noncomitant strabismus, 445–446Nonmigrainous cerebrovascular disease, 228Nutritional nystagmus, 427Nystagmus blockage syndrome, 417

OOcular bobbing, 424Ocular coherence tomography (OCT), 515Ocular neuromyotonia, 356Ocular tilt reaction, 449Ocular torticollis, 444Oculo-auricular phenomenon, 351Oculoauriculovertebral dysplasia. See Goldenhar syndromeOcular motor nerve palsies

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

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

active force generation test, 254–255forced duction test and force generation test, 254–255history, 253–254oculomotor nerve palsy (see Third nerve palsy)trochlear nerve palsy (see Trochlear nerve palsy)

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

causes and ocular flutter, 421–423pathophysiology, 423

Optic atrophy, 506Behr syndrome, 177–178carboplatin, 189chiasmal glioma, 156, 157Cobalamin C methylmalonic acidemia, 185–186compressive/infiltrative intracranial lesions, 161–162

craniopharyngioma, 164–166craniosynostoses, 167dysgerminoma, 166–167fibrous dysplasia, 167–168optic glioma, 162–164optic nerve sheath meningioma, 166osteopetrosis, 167pituitary adenoma, 166

congenital optic tract syndrome, 156, 158DIDMOAD (Wolfram’s syndrome), 178–179disc color and size, 155epidemiology, 156–159hereditary optic neuropathies

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

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

histopathology, 155hydrocephalus, 169, 170vs. hypoplasia, 160–161hypoxia–ischemia, 187–188infantile neuroaxonal dystrophy, 184

604 Index

Optic atrophy (cont.)Leber hereditary optic neuropathy (LHON)

cardiac abnormalities, 175DNA (mtDNA) mutations, 175–177misdiagnosis, 175recessively inherited optic atrophy, 177

neurodegenerative disorders, 180–181Canavan disease, 181Krabbe’s infantile leukodystrophy, 181metachromatic leukodystrophy, 183neonatal adrenoleukodystrophy, 182–183PEHO syndrome, 182Pelizaeus–Merzbacher disease, 181–182subacute necrotizing encephalomyelopathy, 181X-linked adrenoleukodystrophy, 183

noncompressive causesparaneoplastic syndromes, 168–169postpapilledema, 168radiation optic neuropathy, 169

ophthalmoscopic appearance, 155organic acidurias, 185pantothenate kinase-associated neurodegeneration

familial dysautonomia, 184neuronal ceroid lipofuscinoses, 184

pediatric patientancillary testing, 189–190clinical examination, 189medical history, 189

peripapillary nerve fiber layer, 155–156propionic acidemia, 185retinal disorders, 159–160simple recessive optic atrophy, 177spinocerebellar degenerations, 185–186toxic/nutritional optic neuropathy, 179–180traumatic optic atrophy, 188vigabatrin, 188–189X-linked optic atrophy, 177

Optic disc colobomaCT scan, 73gene mutation, 75macular detachment, 73, 74ophthalmoscopic appearance, 74vs. morning glory disc anomaly, 73–75pathological findings, 73–74uncategorizable dysplastic optic discs, 74

Optic disc drusen. See PseudopapilledemaOptic disc dysplasia, 81Optic disc glioma, 123, 511Optic disc hemangioma, 122Optic glioma, 162–164Optic nerve aplasia, 86–87Optic nerve hypoplasia

amblyopia, 61black optic disc, 60CNS abnormalities, 61–64disc size, 61endocrinologic abnormality, 61histopathology, 60hypothyroidism, 62microdisc, diagnosis, 61prevalence, 59pseudo-normal optic disc, 60refractive errors, 61retinal venous tortousity, 60RPE and choroid, nasal pallor and extension, 60systemic and teratogenic associations, 59–60visual acuity, 60

Optic nerve sheath meningioma, 166Optic neuritis

acute disseminated encephalomyelitis (ADE), 124–125Devic disease, 126–127history and physical examination, 124MS, 125–126postinfectious optic neuritis, 124systemic evaluation, 128–129systemic prognosis, 128treatment, 129visual loss and recovery, 127

Orbital hypotelorism, 142Organic acidurias, 460Oscillopsia, 383Osteopetrosis, 167

PPalinopsia, 231Pantothenate kinase-associated neurodegeneration

(PKAN), 485–486Papilledema, 555

clinical signs, 98color vision, 99–100fluorescein angiogram, 98, 99idiopathic intracranial hypertension (see Idiopathic

intracranial hypertension)tumors, 100–101visual field defects, 98–99

Papillorenal syndrome, 78–79Paraneoplastic opsoclonus, 422Paraneoplastic syndromes, 168–169Paroxysmal choreoathetosis, 450Paroxysmal dystonia, 450Paroxysmal dystonic head tremor, 458Paroxysmal torticollis, 447–448Pearson syndrome, 328Peduncular hallucinosis, 231PEHO syndrome, 182Pelizaeus–Merzbacher disease, 181–182, 425, 457, 479–480Perinatal hypoxia-ischemia, 12–13Periodic alternating gaze deviation (PAGD), 354Periodic alternating nystagmus, 419–420Periodic alternating skew deviation, 354Peripapillary staphyloma, 75Periventricular leukomalacia (PVL)

intraventricular hemorrhage, 34–35pathophysiology, 33–34perceptual difficulties, 30–33preterm injury, 27

Peroxisomal disordersadrenoleukodystrophy (ALD), 483–485Zellweger hepatorenal syndrome, 483

PHACE syndrome, 70, 72, 573Phakomatosis, 503Photophobia, 449Pineal region tumors, 536–537Pituitary adenomas, 166, 528Plexiform neurofibroma, 504–505Polymicrogyria, 565–566Pontine glioma, 284Porencephaly, 560Posterior fossa tumors

brainstem tumors, 533–536cerebellar astrocytoma, 531–532ependymoma, 532–533medulloblastoma, 530–531

605Index

Posterior reversible encephalopathy syndrome (PRES), 231–232

Postnatal hypoxia-ischemia, 13–14Postpapilledema optic atrophy, 168Prader–Willi syndrome, 397Primary oblique muscle overaction, 313Primitive neuroectodermal tumors (PNETs), 529–530Priventricular leukomalacia, 65, 67Proptosis, 555Proteus syndrome, 573Pseudopapilledema

optic disc drusenconceptual problem, 134epidemiology, 134fluorescein angiographic appearance, 136growth hormone deficiency, 139histopathology, 136–137natural history and prognosis, 139–140neuroimaging, 136ocular complications, 137–139ophthalmoscopic appearance, 134–135pathogenesis, 137systemic associations, 139

systemic disordersAlagille syndrome, 140–142Down syndrome, 140Kenny syndrome, 142Leber hereditary neuroretinopathy, 142linear sebaceous nevus syndrome, 142mucopolysaccharidosis, 142orbital hypotelorism, 142

Psychogenic visual losscategories

conversion disorder, 242possible factitious disorder, 242true organic disease, 242visually preoccupied child, 241

clinical profile, 239–240management, 242–244neuro-ophthalmologic findings, 240–241

RRadiation optic neuropathy, 169Rathke cleft cysts, 528Recessive optic atrophy, 177Retinal astrocytic hamartomas, 514–516, 520Retrobulbar tumors, 123–124Reversible posterior leukoencephalopathy, 572Rhombencephalosynapsis, 571Riddoch phenomenon, 41Riley–Day syndrome, 184Rod-cone dystrophies, 402–404Rosenberg–Chutorian syndrome, 187Russell diencephalic syndrome, 412–413

SSandhoff disease. See GM2 type IISandifer syndrome, 455Sanfilippo syndrome, 475Santavuori-Haltia disease, 426Sarcoidosis, 112–114Scheie syndrome, 475Schizencephaly, 562, 563Schizophrenia, 232Seesaw nystagmus, 420

Segmental optic nerve hypoplasiaCNS injuries, 67embryogenesis, 65–67genetic mutations, 67–68mitochondrial disease, 68periventricular leukomalacia, 65, 67retrogeniculate lesions, 65, 66superior segmental optic hypoplasia, 64, 65septum pellucidum, 567

Seizures, 18–19, 452Sepsis, 16, 17Septum pellucidum, absence of, 61, 62, 64, 565–567Shaken baby syndrome, 116–118Sialidosis, 476Sixth nerve palsy

benign recurrent,283clinical algorithm, 282congenital sixth nerve palsy, 283Duane retraction syndrome (see Duane retraction syndrome)elevated intracranial pressure, 284infectious sixth nerve palsy, 284–285inflammatory, 285pontine glioma, 284rare causes, 285traumatic, 283

Sjögren–Larsson syndrome, 481–482Skew deviation, 316–318Sleep apnea, 107–108Slit ventricle syndrome, 552Sls syndrome, 476Spasmodic torticollis, 450Spasmus nutans, 410–412, 447, 456Spinal cord tumors, 110–111Spongiform leukodystrophy. See Canavan diseaseStrabismus, neurological dysfunction

bilateral superior oblique overaction, 310cerebral palsy, 310–311craniosynostosis syndromes, 311–312neurologic esotropia, 313–315neurologic exotropia, 315–316skew deviation, 316–318visuovestibular disorders, 311–313

Stroke in childrenabnormal neuronal migration, 559–562abnormal stem cell proliferation, 562–563cerebral dysgenesis and intracranial malformations,

559–560cerebral venous thrombosis (CVT), 558–559colpocephaly, 561–562destructive brain lesions, 560hydranencephaly, 560ornithine transcarbamylase deficiency, 558porencephaly, 560risk factors, 557vascular dysfunction, pathophysiologic mechanisms, 557

Sturge–Weber syndrome, 36port-wine color, facial lesion, 518tomato-catsup fundus, 519venous dilatation, 517

Subacute sclerosing panencephalitis (SSPE), 111, 476Subcortical visual loss. See Periventricular leukomalacia (PVL)Subependymal giant cell astrocytomas (SEGAs), 514Subungual fibromas, 514–515Sudanophilic leukodystrophy, 181. See Pelizaeus–

Merzbacher diseaseSuprasellar tumors, 527–528Supratentorial ependymomas, 529

606 Index

Swollen optic disc, 97–142Leber idiopathic stellate neuroretinitis

anterior ischemic optic neuropathy (AION), 132–133vs. anterior optic neuritis, 129–130autoimmune optic neuropathy, 133cat scratch disease, 130–131diffuse unilateral subacute neuroretinitis (DUSN), 131–132idiopathic retinal vasculitis, aneurysms, and neuroretinitis

(IRVAN) syndrome, 132infectious causes, 131lyme disease, 131macular star-shaped exudates, 129–130medical evaluation, 131posterior ischemic optic neuropathy (PION), 133posterior scleritis, 131retinal ischemia, 132unilateral visual loss, 129–130vitritis and macular star, 129–130

neurological diseasehydrocephalus, 110neurofibromatosis, 110spinal cord tumors, 110–111subacute sclerosing panencephalitis (SSPE), 111

optic neuritisacute disseminated encephalomyelitis (ADE), 124–125Devic disease, 126–127history and physical examination, 124MS, 125–126postinfectious optic neuritis, 124systemic evaluation, 128–129systemic prognosis, 128treatment, 129visual loss and recovery, 127

papilledemaclinical signs, 98color vision, 99–100fluorescein angiogram, 98, 99idiopathic intracranial hypertension (see Idiopathic

intracranial hypertension)tumors, 100–101visual field defects, 98–99

pseudopapilledema (see Pseudopapilledema)retrobulbar tumors, 123–124systemic disease

Blau syndrome, 120–121chronic infantile neurological cutaneous articular

(CINCA), 121craniosynostosis syndromes, 116–117cyanotic congenital heart disease, 116cysticercosis, 118–119diabetic papillopathy, 111–112infantile malignant osteopetrosis, 119–120Kawasaki disease,121leukemia, 114–115malaria, 120malignant hypertension, 112mucopolysaccharidosis, 119paraneoplastic optic disc edema, 120poststreptococal uveitis, 122posttraumatic optic disc swelling, 121–122sarcoidosis, 112–114shaken baby syndrome, 117–118uveitis, 120–121

Synostotic plagiocephaly, 446–447Systemic disease

Blau syndrome, 120–121

chronic infantile neurological cutaneous articular (CINCA), 121

craniosynostosis syndromes, 116–117cyanotic congenital heart disease, 116cysticercosis, 118–119diabetic papillopathy, 111–112infantile malignant osteopetrosis, 119–120Kawasaki disease,121leukemia, 114–115malaria, 120malignant hypertension, 112mucopolysaccharidosis, 119paraneoplastic optic disc edema, 120poststreptococal uveitis, 122posttraumatic optic disc swelling, 121–122sarcoidosis, 112–114shaken baby syndrome, 117–118uveitis, 120–121

Systemic lupus erythematosis, 107Systemic disorders

aortic regurgitation, 459–460cobalamin C methylmalonic aciduria and

homocystinuria, 427Down syndrome, 426endocrine and metabolic disturbances, 460epileptic nystagmus, 427hypothyroidism, 427maple syrup urine disease, 426–427nasopharyngeal disorders, 460nutritional nystagmus, 427organic acidurias, 460

TTay–Sachs disease. See GM2 type IThird nerve palsy

acquired oculomotor nerve palsycryptogenic third nerve palsy, 266inflammatory causes, 267meningitis, 264neoplastic causes, 267ophthalmoplegic migraine, 264–266recurrent isolated third nerve palsy, 266Transient unilateral oculomotor nerve palsy, 267traumatic third nerve palsy, 263–264vascular causes, 266

clinical anatomyfascicle, 256–257nucleus, 256

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

congenital third nerve palsiesamblyopia, 263cyclic oculomotor palsy, 263left oculomotor nerve palsy,262, 263PHACE syndrome, 263unusual facial-oculomotor synkinesis, 261, 262

differential diagnosiscongenital fibrosis of the extraocular muscles

(CFEOM), 267–268internuclear ophthalmoplegia, 268myasthenia gravis, 267

607Index

orbital blowout fracture, 268type II Duane syndrome, 268

evaluation, clinical algorithm, 262management

amblyopia, 268ocular alignment, 269ptosis, 270

Tick paralysis, 338Todd’s paralysis, 19Tonic downgaze, 339–341Tonic upgaze, 341–342Torsional nystagmus, 413Torticollis

head posture, 443neuromuscular causes, 453–455ocular torticollis, 444paroxysmal torticollis, 447–448refractive causes, 453systemic causes, 455wryneck/caput obstipum, 443

Transient idiopathic nystagmus, 339Transient neonatal myasthenia, 328–329Transient neonatal strabismus, 339Transient ocular motor disturbances, infancy

idiopathic nystagmus, 339neonatal opsoclonus, 342neonatal strabismus, 339tonic downgaze, 339–341tonic upgaze, 341–342transient vertical strabismus, 342

Transient vertical strabismus, 342Transient visual loss

Alice in Wonderland syndrome, 230anomalous optic discs, 229cannabinoid, 233cardiogenic embolism, 227–228Charles Bonnet syndrome, 230–231entoptic images, 229epilepsy

ictal cortical blindness, 225vs. migraine,225–227postictal blindness, 225seizure aura, 223–225vigabitrin, 227

genetics, 221–222hallucinogenic drug, 232–233hypnagogic hallucinations, 231lilliputian hallucinations,231media opacities, 230migraine

amaurosis fugax, 216complicated migraine syndromes, 217–219headache, 217migraine aura, 214–216pathophysiology, 219–221vs. retinal vasospasm, 216–217

multiple sclerosis, 232neurodegenerative disease, 232nonmigrainous cerebrovascular disease, 228obscurations, 228–229palinopsia, 231peduncular hallucinosis, 231phosphenes, 230posterior reversible encephalopathy syndrome

(PRES), 231–232posttraumatic transient cerebral blindness, 227

retinal circulation, 229schizophrenia, 232sequelae, 222toxic and nontoxic drug effects

antimetabolites and cancer therapy, 233atropine (anticholinergic drugs), 233–234carbon monoxide, 234clinical approach, 234–235digitalis,233erythropoietin, 233laboratory evaluation, 235

treatment, 222–223Uhthoff symptom, 230

Trigemino-oculomotor synkinesis. See Marcus Gunn jaw winking (MGJW) synkinesis

Trochlear nerve palsybilateral trochlear nerve palsy, 273–274clinical anatomy, 270–271congenital trochlear nerve palsy

causes, 277–278facial asymmetry, 275–277large vertical fusional vergence amplitudes, 275

differential diagnosis, 278–279head posture, 271–272isolated trochlear nerve palsy, 274three-step test, 272–273traumatic trochlear nerve palsy, 275treatment, 279–280vertical diplopia, 270

Tuberin, 514Tuberous sclerosis, 122–123

adenoma sebaceum, 514–515chromosome 16p13, 514chromosome 9q34, 513CNS lesions, 516diagnosis, 514giant cell astrocytomas, 516renal cysts, 514retinal astrocytic hamartomas, 514–516SEGAs, 514subcortical and cortical tubers, 516subungual fibromas, 514–515

Twin pregnancy, 16

UUhthoff symptom, 230Unexplained visual loss. See Visual loss, unexplainedUnilateral schwannoma, 513Upbeating nystagmus, 417Uveitis, 120–121

VVacant optic disc. See Papillorenal syndromeVascular lesions

AVMs, 553–556cavernous angiomas, 556craniocervical arterial dissection, 557intracranial aneurysms, 556isolated venous ectasia, 557

Ventricular shunt failure, 17–18Vertical gaze palsies

downgaze palsy, 324–325rostral interstitial nucleus of medial longitudinal

fasciculus (riMLF), 324

608 Index

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

Vertical head postures, 452–453Vertical nystagmus, 417–419Vestibular schwannomas, 512Vigabitrin-associated visual field loss, 227Visual disorders

achiasmia, 398–400albinism, 394–398congenital retinal dystrophies, 400–402isolated foveal hypoplasia, 400rod-cone dystrophies, 402–404

Visual loss, unexplainedcauses

cornea, 236refractive abnormalities, 236transient amblyogenic factors, 235–236

optic nerve, 237–238retina, 236–237

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

2A phenotype, 521cerebellar hemangioblastomas, 520inheritance, 519low spontaneous mutation rate, 520renal carcinoma, 521retinal capillary hemangiomas, 520types 1 and 2B, 521

vanillylmandelic acid (VMA), 521VHL gene, 520

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

Alexander disease, 481Canavan disease, 478–479cerebrotendinous xanthomatosis, 482Cockayne syndrome, 480–481Krabbe disease, 479metachromatic leukodystrophy, 478Pelizeus–Merzbacher disease, 479–480Sjögren–Larsson syndrome, 481–482

Wildervanck syndrome, 574–575Wilson disease, 486Wolfram syndrome, 178–179

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

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