Index

A referrals and information resources Abducens nerve. See Cranial nerve VI regarding, 104 Abscess, cerebral, 269, 270 Alcohol use Physician-parent interactions, 99–100 as fetal alcohol syndrome cause, Accommodative insufficiency 53, 258 Adie’s tonic -related, 422, as hypoplasia cause, 424 205 as eyestrain cause, 411 Alexander’s law of , 74–75 as headache cause, 406 Alopecia, linear, relationship with refractive errors-related, 317 progressive hemifacial atrophy, 373, N-Acetylaspartic acid (NAA), in 374 Canavan’s disease, 349, 350 Amacrine cells, 26 a-N-Acetylgalactosaminidase defects, Amaurosis, Leber’s congenital, 36, 316, 327, 336 426 (rod monochromatism), photoreceptor dysgenesis 316, 427–428, 431 associated with, 302 photoreceptor dysgenesis associated with, 302 Adie’s tonic pupil-related, 422 Adenomas, pituitary, 284 cranial -related, Adenoviruses, 270 130 Adie’s pupil, 70, 421–422 cranial third nerve palsy-related, as cause, 421–422, 424 126 progressive hemifacial atrophy- differentiated from related, 373–374 functional visual loss, 405 Adrenal insufficiency, 338, 341 retinal or optic nerve Adrenoleukodystrophy, 328, 330 dysfunction, 65 as cause, 262 Marcus Gunn jaw-winking-related, neonatal, 326, 338, 340, 342 152–153 x-linked, 337, 338–341 as Marcus Gunn pupil cause, Adrenomyeloneuropathy, 338–339 69 Afferent pupillary defect. See Marcus megalopapilla-related, 226 Gunn pupil meningomyelocele-related, 382 Agnathia-holoprosencephaly, 54 morning glory anomaly- Agyria (lissencephaly), 258–259 related, 217 as cortical optic disc -related, 221 cause, 248 peripapillary staphyloma-related, Aicardi’s syndrome, 235, 237–239 225 Albinism, ocular, 71, 235, 236, 316, visual abnormalities associated 428–429 with, 90 oculocutaneous type 1, 428 American Academy of Pediatrics, 85

435 436 index

Ametropia, high, 425 Anticonvulsants Anemia as myasthenia gravis cause, 156 congenital toxoplasmosis-related, as nystagmus cause, 305 268 Antisaccades, 109 as optic disc edema cause, 414 , 16 Anencephaly (exencephaly), 54 vision aids for, 88–89 Aneurysms, as third cranial nerve palsy Apraxia cause, 139 congenital motor, 73 Angiogenesis, retinal, 27–28 oculomotor , ocular anomalies associated head-thrusting behavior with, 36 associated with, 425 Anisocoria, 417–424, 422 oculomotor. See also Saccade assessment of, 70 initiation failure causes of differentiated from cortical Adie’s tonic pupil, 421–422, visual impairment, 250–251 424 head-thrusting behavior Arnold-Chiari malformations, associated with, 425 379 AP-2 transcription factor, 16 atropine , 422 Aqueductal stenosis, 264 brain lesions, 255 Aqueous humor, production of, 22 cranial third nerve palsy, 421 Argyll-Robertson pupil, progressive Horner’s syndrome, 419–421 hemifacial atrophy-related, 373–374 parasympathetic lesions, 421, Arnold-Chiari malformations, 256, 257, 423 375–380 platybasia/basilar impression, conditions associated with 386 downbeat nystagmus, 307 sympathetic lesions, 419–421, hydrocephalus, 264, 380 423 internuclear ophthalmoplegia, neuroanatomy of, 417–419 125 simple, 419 Klippel-Feil syndrome, 388 meningomyelocele, 381 as eyestrain cause, 411 neural integrator abnormality, as headache cause, 406 115 Marcus Gunn jaw-winking-related, renal-coloboma syndrome, 379 152–153 treatment of, 256 Anomaloscope, Nagel, 80 types of, 375–376 , 33 Arteriovenous malformations, as Anterior pituitary hormone deficiency, headache cause, 407 208, 210 Arylsulfatase-A defects, 327, 331–332 Anterior segment dysgenesis, 46, Arylsulfatase-A pseudodeficiency, 333 47–48 Askenazi Jews -related, 33 Canavan’s disease in, 349 ocular anomalies associated with, familial dysautonomia (Riley-Day 33, 34, 36 syndrome) in, 354 as Rieger’s anomaly, 36, 48 Aspartoacylase deficiency, 349, 350 Antiacetylcholine receptor antibody, Aspartylglycosaminuria, 327 154, 155, 159–160 Asphyxia Antiarrhythmic drugs, as myasthenia as brain injury cause, 265–267 gravis cause, 156 as cerebral visual impairment Antibiotics, as myasthenia gravis cause, 430 cause, 156 Astrocytomas, 271–276 Anticholinesterase agents, as of the brainstem, 271, 272–273 myasthenia gravis cause, 156 of the cerebellum, 271–272 index 437

Astrocytomas (Continued) Batten disease (neuronal ceroid of the cerebrum, 273–274, 275 lipofuscinosis), 326, 329, 333–335, calcification of, 279–280 426–427 of the chiasm, 274, 276 late, 328 fibrillary, 271–272, 273 Batten-Mayou disease, 334 grading of, 271 Bell’s palsy, recurrent, 143 of the hypothalamus, 274 Bell’s phenomenon, 115 of the optic nerve, 274, 276–278 in dorsal midbrain syndrome, pilocytic, 271, 272 120 Ataxia in double elevator palsy, 123 Friedreich’s, 329 during funduscopic examination, mitochondrial diseases-related, 345 82 neuronal ceroid-lipofuscinosis- in Kearns-Sayre syndrome, 165, related, 334 168–169 nystagmus-related, 303–304 in myotonic dystrophy, 170 opsoclonus associated with, 308 Bergmeister’s papilla, 27, 30 Ataxia hereditary syndromes, 355–358. Beta-blockers, as headache treatment, See also Ataxia telangiectasia (Louis- 413 Bar syndrome) Bielschowsky head tilt test, 72–73 classification of, 355–356 Binocular visual acuity spinocerebellar ataxia, 356–357 assessment of, 63–64, 312 Ataxia telangiectasia (Louis-Bar in nystagmus, 312 syndrome), 328, 357–358 Binocular visual field defects, saccade initiation failure associated assessment of, 78 with, 117, 118 Birds, embryonic development in, 10 Atlantoaxial dislocation, Bladder, neurogenic, 380 platybasia/basilar impression-related, Blastocysts, 1, 2 385, 387 , 40 ATM protein defects, 358 progressive hemifacial atrophy- Atropine poisoning, as mydriasis cause, related, 373 422, 423 Blind Babies Foundation of Northern Attitudinal defects, diagnosis of, 76, 77, California, 248 78–79 Blindness. See also Visual loss, Auditory nerve. See Cranial nerve functional VIII binocular, 400 Auras, migraine headache-related, 407– assessment of, 401, 405 408 cortical. See Cortical visual Autism, differentiated from cortical impairment (CVI) visual impairment, 250–251 monocular, 400 Axenfeld-Rieger’s autosomal dominant assessment of, 401–402 iridogoniodysgenesis, 34 neuronal ceroid-lipofuscinosis- Axenfeld’s anomaly, 47 related, 334, 335 referrals and information resources B regarding, 103 Babinski sign, 336 Zellweger syndrome-related, 343 Barkan’s membrane, 48 Blinking, “synkinetic,” 117–118 persistence of, 23 Blood flow, renal, in papillorenal Basal cell nevus syndrome, 34 syndrome, 241, 242 Basal ganglia Blurred vision, pseudotumor cerebri- asphyxic injuries to, 266 related, 410 hamartomatous lesions of, 276–277 BMP4 gene, 15 Basilar impression, 375, 383–387 Bone marrow transplantation, 333, 335, Batten, F. E., 334 340 438 index

Botulinus toxin as cause, 129 as intrafacial synkinesis treatment, eye movement disorders associated 153 with, 115 as sixth cranial nerve palsy of glial origin, 271–279 treatment, 130 headaches associated with, 409 Botulism, 162–163 of meningeal origin, 280–281 Bowman’s capsule, 21 of neural origin, 279–280 Brachial plexus injuries, 267–268 secondary, optic glioma-related, Brain 277 abscess of, 269, 270 of, 270–271 asphyxia-related injuries to, as sixth cranial nerve palsy cause, 265–267 127, 129 embryonic development of, 5, 8, 9, Branchiootorenal syndrome, 34 10 Bridle-effect theory, of Duane’s cellular proliferation phase of, syndrome, 1471–48 256, 258–260 Brown’s syndrome, 71 induction phase of, 255–256 acquired, 164 synapse formation and congenital, 164 myelination phase of, 256 iatrogenic, 135 perinatal injuries to, 265–268 Buck, Pearl, 95 Brain lesions, 255–288. See also Brain “Bullneck anomalies.” See Cervico- tumors occipital proximity disorders congenital abnormalities, 255–261 Bull’s-eye , 334, 355 brainstem abnormalities, Bull’s line, 387 260–261 cerebellum abnormalities, C 260–261 Caffeine, as headache-precipitating as cortical visual impairment factor, 413 cause, 248 Campylobacter jejuni infections, disorders of cellular migration 141–142, 143 and proliferation, 258–260 Canadian National Institute for the induction disorders, 255–258 Blind, 316 , 262–265 Canavan’s disease, 326, 330, 349–350 infection-related, 268–270 prenatal diagnosis of, 350 ophthalmologic signs and Cancer. See also specific types of symptoms of, 255 cancer perinatal injuries-related, 265–268 myasthenia gravis associated with, Brainstem 160 anomalies of, as neural integrator referrals and information resources abnormality cause, 115 regarding, 101 asphyxic injuries to, 266 Capsulohyaloidal ligament, 30 lesions of, 83 Carbonic anhydrase inhibitors, 262 role in eye movements, 114 , 237–238 in saccadic eye movements, anterior polar, 19, 20, 21 111, 112, 121 congenital, 424 Brainstem tumors congenital cytomegalovirus astrocytomas, 271, 272–273 infection-related, 268 internuclear ophthalmoplegia congenital rubella syndrome- associated with, 125 related, 268 saccade initiation failure associated genetic factors in, 37 with, 118 -related, 35 Brain tumors, 270–285 lysosome oligosaccharidoses- of congenital origin, 281–285 related, 325 index 439

Cataracts (Continued) Cerebroside sulfatase, 331–332 microphthalmia-related, 33 Cerebrospinal fluid nonocular anomalies associated in chiasmatic glioma, 276 with, 35 in plexus papilloma, 264 referrals and information resources in hydrocephalus, 262–263, 264, regarding, 105 265 Cat’s-eye syndrome, 34 normal lumbar pressure of, 263 Caudal pons, role in saccadic eye in optic disc edema and movements, 113, 122 , 414 Centers for Disease Control and Cerebrum, astrocytomas of, 273–274, Prevention (CDC), 85 275 Central nervous system. See also Brain Ceridoses, 326, 328, 329 infections of, as cortical visual Cervical nerve palsy, 386 impairment cause, 248 Cervical sympathetic nerve injury, malformations of 267–268 Aicardi’s syndrome-related, Cervico-occipital proximity disorders 238–239 (“bullneck anomalies”), 375–392 Arnold-Chiari malformations, associated with, 211–212 375–380 saccade initiation failure cranial-vertebral abnormalities, associated with, 118 383–387 septo-optic dysplasia-related, Klippel-Feil syndrome, 375, 383, 208 387–392 small optic disc-related, 204 meningomyelocele, 375, 380–383 measles infection of, 353 platybasia and basilar impression, supranuclear disorders of, 116–124 375, 383–387 Cerebellitis, as sixth cranial nerve Cesarean sections, effect on congenital palsy cause, 127 herpes simplex infection rate, 269 Cerebellopontine angle tumors, Chamberlain’s line, 384, 387 305–306 CHARGE association, 34, 221 meningiomas, 281 referrals and information resources Cerebellum regarding, 102 anomalies of, as neural integrator Chediak-Higashi syndrome, 328 abnormality cause, 115 Cheeses, as headache-precipitating in Arnold-Chiari malformations, factor, 413 376, 377 Cherry-red spots, 325 asphyxic injuries to, 266 Krabbe’s disease-related, 330 astrocytomas of, 271–272 Tay-Sach’s disease-related, 324, 325 diseases of, as opsoclonus cause, Chiari malformations. See Arnold- 308 Chiari malformations role in eye movements, 114 Chiasm Cerebral artery, left posterior, antenatal astrocytomas of, 274, 276 asphyxic injury to, 266 gliomas of, 274, 276, 277, 278 Cerebral palsy Choanal atresia, 35 ataxia telangiectasia misdiagnosed Chocolate, as headache-precipitating as, 357 factor, 413 cortical visual impairment Choriocapillaris, 24 associated with, 248 Chorioretinal lacunae, 237, 238 referrals and information resources , 268 regarding, 102 Choristomas, 42 Cerebrohepatorenal syndrome Choroid (Zellweger syndrome), 326, 338, coloboma of, 33, 36, 38–40, 41 342–343 embryonic development of, 23–24 440 index

Choroidal fissure, 12 differentiated from morning Choroidal skip lesions, 41 glory disc anomaly, 223 Choroid plexus optic pits associated with, 230, cerebrospinal fluid production in, 231 262 of the optic nerve, 33, 36, 38–39, hemorrhage into, 267 40, 41, 71 papilloma of, 264 as neonatal visual impairment tumors of, 278 cause, 424 Chronic illness, referrals and orbital or cysts associated information resources regarding, 102 with, 36 Chronic progressive external retinal, 71 ophthalmoplegia (CPEO), 166–168, retinochoroidal, 240 329, 345 Color photoreception, 79 Color vision of, 37 in achromatopsia, 427–428 embryonic development of, 22–23, in optic nerve abnormalities, 205 23 Color vision testing, 79–81 Cilioretinal arteries, 241 Compassion, in physician-parent Ciliospinal center of Budge, 417 interactions, 99 Cleidocranial , 384 Compazine, 413 Cloquet’s canal, 30 Cones, 79 Clostridium botulinum, 162 embryonic development of, 26–27 Cocaine, as unilateral mydriasis cause, lack of, 427 422 Congenital rubella syndrome, 268 Cocaine testing, for Horner’s Congenital tilted disc syndrome, syndrome-related aniscoria, 420–421 231–235 Coenzyme Q10, as Kearns-Sayre syndrome treatment, 168 chronic, ataxia telangiectasia Cogan’s lid switch sign, 158 misdiagnosed as, 357 Cogwheel pursuits, Arnold-Chiari hemorrhagic malformation-related, 378 acute, 143–144 Collagen, 48 enterovirus-related, 269 Collicular plate sign, 119 Conradi’s syndrome, 384 Collier’s sign, 120 Consideration, in physician-parent Collier’s syndrome, 307 interactions, 98 Colloid cysts, 278 Contrast dyes, as myasthenia gravis Colobomas, 33, 36–42 cause, 156 atypical uveal, 37 Convergence choroid, 33, 36, 38–40, 41 insufficiency of of the ciliary body, 37 Arnold-Chiari malformation- of the eyelids, 36, 51–52 related, 378 Goldenhar’s syndrome-related, 44, as eyestrain cause, 411 45 as headache cause, 406 of the , 33, 36–37, 38–40, 41, 71, platybasia/basilar impression- 237–238 related paralysis of, 386 “,” 37 Convergence spasm, 123–124 macular, 33, 36 Corectopia, 49 microphthalmia associated with, 13, 33, 38–40 angiogenesis inhibition in, 28 ocular anomalies associated with, disease of, as headache-like pain 33, 34, 36 cause, 406 of the optic disc, 206, 213–214, in Möbius syndrome, 260 219–221, 237 transparency of, 22 index 441

Corneal anesthesia, platybasia/basilar vertical retraction syndrome, impression-related, 386 151–152 Corneal epithelium, 20 in migraine headaches, 408 Cornea plana, 46 palsies of, 136–140 Cornelia de Lange syndrome, 259 amblyopia associated with, Corpus callosum 126 agenesis or thinning of, 208, 237, as anisocoria cause, 421 238–239 bacterial meningitis-related, Arnold-Chiari malformation- 269 related defects of, 377, 379 congenital, 138–139 Cortical migration anomalies, 238–239 with cyclic spasms, 139 Cortical visual impairment (CVI), partial, 137 247–254 traumatic, 137, 138, 140 clinical assessment of, 251 perinatal injury to, 267 clinical features of, 250–251 polio virus-related injury to, 270 definition of, 247 role in eye movements, 108–109 differential diagnosis of, 250–251 in supranuclear eye etiology of, 248–250 movements, 111, 112 genetic factors in, 251 vaccine-related injury to, 270 incidence of, 248 Cranial nerve IV meningomyelocele-related, 380, in migraine headaches, 408 381, 382 palsies of, 130–136 natural history of, 251–252 bacterial meningitis-related, periventricular leukomalacia 269 associated with, 248, 249, 253 superior oblique, 130–131, prematurity as risk factor for, 247 133–134, 135 prognosis for, 252–253 traumatic, 135–136 of prematurity role in eye movements, 108–109 associated with, 247, 251, 252 in supranuclear eye systemic associations of, 251 movements, 111 treatment of, 252 Cranial nerve V Corticotropin deficiency, 210 assessment of, 83 CPEO. See Chronic progressive palsies of, 143–144 external ophthalmoplegia brainstem astrocytoma-related, CP49 lens protein, 16 273 CP95 lens protein, 16 platybasia/basilar impression- Cranial nerve(s) related, 386 anomalies of, in platybasia and in progressive hemifacial atrophy, basilar impression, 384–385 374 palsies of, 126–144 Cranial nerve VI combined, 140–144 anomalies of, 144–151 general clinical considerations in Duane’s syndrome, 144–150 in, 126–127 in synergistic divergence, Klippel-Feil syndrome-related, 150–151 389 in migraine headaches, 408 progressive hemifacial atrophy- nucleus lesions of, 124 related, 375 palsies of, 127–130 perinatal injuries to, 267–268 Arnold-Chiari malformation- Cranial nerve III related, 378 anomalies of, 146–147, 151–153 bacterial meningitis-related, Marcus Gunn jaw-winking, 269 152–153 Dandy-walker cyst-related, 261 oculomotor synkinesis, 151 meningomyelocele-related, 381 442 index

Cranial nerve VI (Continued) Dandy-Walker syndrome, 261, 376 pseudotumor cerebri-related, cysts associated with, 261 409–410 as hydrocephalus cause, 264 perinatal injury to, 267 Wildervanck’s syndrome- role in eye movements, 108–109 associated, 392 in supranuclear eye Deafness. See Hearing loss movements, 111, 112 Delayed visual maturation (DVM), 425 Cranial nerve VII differentiated from cortical visual anomalies of, 153–154 impairment, 250–251 assessment of, 83 Delivery, asphyxic brain injuries in Möbius syndrome, 173–174 during, 265 palsies of, 143–144 De Morsier’s syndrome, 207–208 perinatal injury to, 267 Depigmentation, V- or tongue-shaped Cranial nerve VIII, assessment of, 83 infrapapillary, 240 Cranial nerve XI, in Möbius syndrome, Dermoids, 42–43 173–174 epibulbar, 37 Cranial nerve XII, in Möbius syndrome, limbal, 43 173–174 Goldenhar’s syndrome-related, Cranial-vertebral abnormalities, 44, 45 383–387 Dermolipomas, 43–44 Craniofacial developmental anomalies, Goldenhar’s syndrome-related, 44, 51–52 45 Craniopharyngiomas, 283–284 Descemet’s membrane, 22 Creutzfeldt, Hans Gerhard, 338 absence of, 47 Crocodile tears (paradoxical gustatory- Developmental milestones, 82–83 lacrimal reflex), 391–392 Diabetes insipidus, 210–211, 257, 336 , 45, 46 Diabetes mellitus complete, 44, 45 juvenile, as optic disc edema cause, incomplete, Goldenhar’s syndrome- 414 related, 44, 45 maternal, as holoprosencephaly Crystallins, 19 cause, 257 Cyclin-dependent kinase inhibitor mitochondrial diseases-related, protein, 50 343 Cyclitis, heterochromic, 374–375 Diagnosis, of child’s disability, parental Cyclopia, 36, 37, 52 response to Cyclovertical muscle paralysis, 72–73 grieving process, 96–97, 98 Cysternography, for Arnold-Chiari physician’s role in, 98–101 malformation diagnosis, 379 resources and referrals for, 101–106 Cysts Diamox, 410 arachnoid, 284–285 Digitoocular sign of Franceschetti, 426 colloid, 278 Diopter lens Dandy-Walker, 261 90, for pseudopapilledema of the eyelids, 33, 40, 42 examination, 415 orbital, 33, 39, 40 indirect, 82 of Rathke’s pouch, 284 retrobulbar, 237–238 Arnold-Chiari malformation- Cytomegalovirus infections related, 377 congenital neurologic, 268 brain tumor-related, 271 as holoprosencephaly cause, 257 Miller fisher syndrome-related, 142 D DNA (deoxyribonucleic acid) Dancing eyes, dancing feet syndrome, mitochondrial, 344–345 308 nuclear, 344–345 index 443

Doll’s head (oculocephalic) maneuver, frontonasal, 54–55 115 oculoauriculovertebral. See for double elevator palsy Golderhar’s syndrome evaluation, 123 retinal, 50 for ocular motor cranial nerve septo-optic, 35, 207–208, 257, 259 palsy evaluation, 126 overlap with Aicardi’s technique of, 71–72 syndrome, 239 Dorsal midbrain syndrome, 119–122, Dysraphism, as Klippel-Feil syndrome 282 cause, 389 Arnold-Chiari malformation- Dysrhythmias, mitochondrial diseases- related, 377 related, 345 Dorsolateral pontine nuclei (DLPN), 114 E Double elevator palsy, 123 Echolalia, neuronal ceroid- Marcus Gunn jaw-winking-related, lipofuscinosis-related, 334 152–153 Ectoderm, 1, 2, 3, 5 Double-ring sign, 205, 206 neural, 9, 10–11 Drualt’s bundle, 29–30 Ectopia, posterior pituitary, 208, 209, Drugs. See also names of specific drugs 210 as headache cause, 407 et pupillae, 49 as optic nerve hypoplasia cause, , progressive hemifacial 205 atrophy-related, 373 Drusen, of the optic disc, 414, 416, 417 Ectropion , 42, 50 Duane’s syndrome, 71, 128 Edema. See also Papilledema; Arnold-Chiari malformation- Pseudopapilledema related, 378 of the optic disc, 413–414 as blindness mimic, 425 Elavil, 413 bridle-effect theory of, 1471–1448 Electro-oculography, “contact,” 314 fourth cranial nerve anomalies Electrophysiological testing associated with, 144–150 for cerebral visual impairment Klippel-Feil syndrome-related, 390, evaluation, 431 391 for eye movement disorders Marcus Gunn jaw-winking-related, evaluation, 314–315 153 Electroretinography type III, 425 for cerebral visual impairment Windervanck’s syndrome-related, evaluation, 431 390 for functional visual loss Duochrome test, 404, 405 evaluation, 402–403, 405 Dwarfism, pituitary, 208 pattern, 65–66 Dysarthria, neuronal ceroid- Embryological development, 1–32 lipofuscinosis-related, 334 of the brain, 5, 8, 9, 10 Dysautonomia, familial (Riley-Day cellular proliferation phase of, syndrome), 328, 354 256, 258–260 Dyschromatopsias induction phase of, 255–256 acquired, 79–80 synapse formation and brain lesion-related, 255 myelination phase of, 256 congenital, 79 differentiation of germ layers and Dysgenesis syndromes, ocular. See embryogenesis, 1–6 Ocular dysgenesis, syndromes of neural crest development, Dysmetria, ocular, 308 6–7 saccadic, 378 somites development, 7 Dysplasia of the eye fibrous, 384 choroid and , 23–24 444 index

Embryological development Epstein-Barr virus infections, as (Continued) Guillain-Barré syndrome risk factor, cornea and anterior chamber, 141–142 20–22 Ergot preparations, 413 disorders of. See Ocular Esotropia dysgenesis, syndromes of accommodative, 71 , 14, 15, 32 acute comitant, 128–129 eyelids, 15, 18, 29, 32 A-pattern, 383 iridocorneal angle, 23 Arnold-Chiari malformation- iris and ciliary body, 22–23 related, 378 lens, 9, 10, 11, 12, 15–20 fourth cranial nerve palsy-related, ocular tissue, 7 133 optic fissure, 12–15, 17 Klippel-Feil syndrome-related, 391 optic nerve, 12, 23–24, 30–32 meningomyelocele-related, 382 optic sulci, 4, 5, 6, 8, 9, 10 Möbius syndrome-related, 260 optic vesicle and optic cup, 7, neuroaxonal dystrophy-related, 336 8–15, 22, 23, 26 nystagmus-related, 300 , 12–13, 16, 24–28 V-pattern, 134 somites, 5, 8 ETDRS chart, 312 tunica vasculosa lentis, Excavated optic disc anomalies, 19–20 213–214 vitreous, 17, 29–30 Excitatory burst neurons (EBNs), Embryonic fissure, 12 110–111, 113 Embryotoxon, posterior, 47 Exencephaly (anencephaly), 54 Encephalitis Exotropia as headache cause, 407 Adie’s tonic pupil-related, 422 “lightning eye movements” third cranial nerve palsy-related, associated with, 308 421 subacute inclusion body, 353 Exotropia, adrenoleukodystrophy- subacute sclerosing, 329, related, 262 353–354 Extraocular muscles Encephaloceles, 54, 380 congenital absence of, 164 Arnold-Chiari malformation- disorders of, 163–164 related, 376 embryonic development of, 14, 15, basal, 204, 217, 218, 221, 226 32 optic nerve coloboma-related, fibrosis of, 164 36 Eye, brain, and face malformation transsphenoidal, 240 complexes, 51–52 Encephalomalacia, multicystic, 250 Eye, embryonic development of, 8–32 Encephalopathy, subacute necrotizing choroid and sclera, 23–24 (Leigh’s syndrome), 326, 345–347 cornea and anterior chamber, “En coupe de sabre” groove, 374 20–22 Endoderm, 1, 2, 3 disorders of. See Ocular dysgenesis, Endothelium, corneal, 22 syndromes of , progressive hemifacial extraocular muscles, 14, 15, 32 atrophy-related, 373, 374 eyelids, 15, 18, 29, 32 Enteroviruses, 269 iridocorneal angle, 23 Enzyme dysfunction, in iris and ciliary body, 22–23 neurodegenerative diseases, 324 lens, 9, 10, 11, 12, 15–20 Ependymomas, 278 ocular tissue, 7 Epiblast, 1, 2 optic fissure, 12–15, 17 , autoimmune etiology of, optic nerve, 12, 23–24, 30–32 374–375 optic sulci, 4, 5, 6, 8, 9, 10 index 445

Eye, embryonic development of Fibronectin, 7, 21–22 (Continued) Filensin, 19 optic vesicle and optic cup, 7, Fiorinal, 413 8–15, 22, 23, 26 Fixation, in visual field testing, 78, 79 retina, 12–13, 16, 24–28 Flutter, ocular, 308, 309 somites, 5, 8 Fogging techniques, for functional tunica vasculosa lentis, 19–20 visual loss assessment, 403–404, 405 vitreous, 17, 29–30 Food, as headache-precipitating factor, Eyelids. See Lid(s) 413 Eye movement disorders. See Motility Forced lid closure test, 115 disorders, ocular Forebrain, embryonic development of, Eye movements. See also Saccades 5, 8, 9, 10 in nystagmus, evaluation of, Fovea 313–315 embryonic development of, 27 range of, clinical evaluation of, 108 infantile nystagmus syndrome- reflex, clinical evaluation of, 115 related hypoplasia of, 301 saccadic. See Saccades Foveation periods, in infantile smooth pursuit, 109, 113–114 nystagmus syndrome, 297 supranuclear, 108–124 FoxE3 gene, 16 disorders of, 116–124 Friedreich’s ataxia, 329 physiology and clinical Fucosidosis, 327 assessment of, 108–115 Fukuhara’s disease, 329, 345, 348 vergences, 109, 114 Fundoscopic examination, 81–82 in dorsal midbrain syndrome, Fundus 120 ipsilateral hypopigmentary changes insufficiency of, 158 in, 372, 375 vestibular, 108–109 peripheral, 82 Eye poking Fusion maldevelopment nystagmus cerebral visual impairment cause- syndrome, 293, 300 related, 430 Leber’s amaurosis-related, 426 G Eyestrain, as headache cause, 410, 411 Galactocerebrosidase deficiency, 330, 331 F Galactosylceramide lipidosis (Krabb’s Facial anomalies, 51–52 disease), 330–331 cranial -related, Gangliogliomas, 279, 280

133–134, 135 Gangliosidoses, GM1, 325 Möbius syndrome-related, 174 Gastrointestinal tract, Klippel-Feil myotonic dystrophy-related, 170 syndrome-related anomalies of, 389 progressive hemifacial atrophy- Gastrulation, 1, 2–3 related, 371, 372, 374 Gaucher’s disease, 116, 117 Zellweger syndrome-related, 427 saccade initiation failure associated Facial nerve. See Cranial nerve VII with, 116, 117, 118 Facial paralysis, Möbius syndrome- type 3, 327 related, 260 Gaze paresis, Arnold-Chiari Familial dysautonomia (Riley-Day malformation-related, 378 syndrome), 328, 354 Genetic anticipation, 356 Farnsworth D-15 test, 80–81 Germinal matrix injuries, 248 Farnsworth-Munsell 100 hue test, Germinomas, 281–283 80–81 Glaucoma Fetal alcohol syndrome, 53, 258 congenital, 48–49 Fetal hydantoin syndrome, 258 anterior segment dysgenesis- Fibroblast growth factor (FGF), 19 related, 47 446 index

Glaucoma (Continued) Headaches, 406–413 Barkan’s membrane in, 23 acute severe, 407 congenital rubella syndrome- brain tumor-related, 271 related, 268 chronic nonprogressive, 410–411 as headache-like pain cause, 406 evaluation of, 406 ocular anomalies associated with, migraine, 407–408 33, 34, 36 classification of, 407–408 optic pits associated with, 228 differentiated from tension Gliomas headaches, 410–411 chiasmatic, 274, 276, 277, 278 as esotropia cause, 128–129 definition of, 271 ophthalmoplegic, 139–140 of the optic nerve, 274, 276–278 progressive hemifacial atrophy- differentiated from related, 371–372 gangliogliomas, 280 patient evaluation of, 411–412 orbital, 226 recurrent, 409 spontaneous regression of, 277 subacute, 409–410 treatment of, 277–278 tension or stress, 410–411 as sixth cranial nerve palsy cause, Head-thrusting behavior, in saccade 127 initiation failure (oculomotor types of, 271–279 apraxia), 117–118, 425

GM1 gangliosidoses, 325 Head tilt, fourth cranial nerve palsy- Goldenhar’s syndrome, 36, 44, 45, 221 related, 133, 134, 135 Goldmann visual fields, in tilted disc Head trauma syndrome, 232–233, 234 as cortical visual impairment Goldman perimetry, 79 cause, 248 Goltz focal dermal hypoplasia, 221 as esotropia cause, 128–129 Gradenigo’s syndrome, 83 as fourth cranial nerve palsy cause, as sixth nerve palsy cause, 127 135–136 Group Health, Inc., 292 as headache cause, 407 Growth factors, in lens differentiation, Hearing loss 19 congenital rubella syndrome- Growth hormone deficiency, 210, 301 related, 268 Guillain-Barré syndrome Klippel-Feil syndrome-related, 388, bulbar variant of, 141 389, 390 cranial nerve palsy associated with, meningitis-related, 269 141–142 mitochondrial diseases-related, differentiated from botulism, 163 343, 345 infections as risk factor for, nystagmus-related, 303–304 141–142 referrals and information resources relationship with Miller Fisher regarding, 103 syndrome, 142–143 Hemianopia Gustatory-lacrimal reflex, paradoxical, bitemporal 391–392 diagnosis of, 76, 77 tilted disc syndrome-related, H 231–232, 233, 234 Haemophilus influenzae infections, 136 homonymous, diagnosis of, 76, 77 Hagberg-Santavouri disease, 334 Hemiplegia, migraine headaches- Hallerman-Streiff syndrome, 259 related, 408 Hallervorden-Spatz disease, 329, 337, Hemorrhage 354–355 intracranial, 267 Hallucinations, migraine headaches- asphyxia-related, 267 related, 408 mechanical trauma-related, Harada-Ito procedures, 135 267 index 447

Hemorrhage (Continued) embryonic development of, 13, intraventricular, 267 19–20, 21, 27, 30 papilledema-related, 416 Hyaloid vasculature, embryonic periventricular, 267 development of, 13, 14, 15, 17, 24, 25 pseudopapilledema-related, 416– Hyaluronic acid, 20, 21 417 Hydrocephalus, 264 subarachnoid, 267 Arnold-Chiari malformation- as meningeal scarring cause, related, 375, 376–377 263 treatment of, 380 subdural, mechanical trauma- as cerebral visual impairment related, 265 cause, 430 Heredopathia atactica childhood-onset, 265 polyneuritiformis, 341 communicating, 263, 264 Hering’s law of equal innervation, congenital cytomegalovirus 158 infection-related, 268 Herpes simplex infections, congenital congenital rubella syndrome- neurologic, 268, 269 related, 268 Heterochromia Dandy-Walker cyst-related, 261 of the iris, Horner’s syndrome- definition of, 262 related, 419, 420 as dorsal midbrain syndrome cause, progressive hemifacial atrophy- 120, 122 related, 373–374, 374 internuclear ophthalmoplegia associated with, 125 as eyestrain cause, 411 lid retraction associated with, 383 as headache cause, 406 as macrocephaly cause, 262–263 Heteroplasmy, 167, 344 meningomyelocele-related, 381 Hindbrain, embryonic development of, noncommunicating, 263, 264 5, 8 brainstem astrocytoma-related, Hirschsprung megacolon, 153 272 Histiocytosis X, as platybasia or basilar ottic, 265 impression cause, 384 platybasia/basilar impression- Holoprosencephaly, 36, 52–54, 256–257, related, 385–386 258, 264 referrals and information resources as cortical visual impairment regarding, 103 cause, 248 setting sun sign in, 121 Horner’s syndrome, 419–421 Hydrocephalus ex vacuo, 263 acquired, 424 Hydronephrosis, 380 as anisocoria cause, 419–421, 423– Hyperachondroplasia, as platybasia or 424 basilar impression cause, 384 Arnold-Chiari malformation- Hyperemia, of the optic disc, 414 related, 356, 379 Hyperopia congenital, 71, 268 as eyestrain cause, 411 incomplete, progressive hemifacial as headache cause, 406 atrophy-related, 373–374 as pseudopapilledema cause, 414 pupillary examination in, 70 Hyperparathyroidism, as platybasia or Hunter syndrome, 327 basilar impression cause, 384 Hurler syndrome, 327 Hyperpigmentation, progressive as platybasia or basilar impression hemifacial atrophy-related, 374 cause, 384 Hypertension Hyaloid artery, 12 as headache cause, 407 anatomy of, 13, 19, 27 as optic disc edema cause, 414 embryonic atrophy and regression as third cranial nerve palsy cause, of, 27, 30 136 448 index

Hypoachondroplasia, as platybasia or neurologic basilar impression cause, 384 acquired, 269–270 Hypoblast, 1, 2 congenital, 268–269 Hypoglycemia, as headache cause, 407 Inferior oblique muscle, weakness of, Hypoparathyroidism, as platybasia or 123 basilar impression cause, 384 Inflammation, as sixth nerve palsy Hypopigmentation, referrals and cause, 127, 130 information resources regarding, 104 Inhibitory burst neurons (IBNs), Hypopituitarism, 208, 210, 212, 284 110–111, 113 septo-optic dysplasia-related, 257 Insulin-like growth factor, 19 Hypothalamus, astrocytomas of, 271, Interferon, as adrenoleukodystrophy 274 treatment, 340–341 Hypothyroidism, 210 Internuclear ophthalmoplegia, 124–125 Hypotonia, in saccade initiation failure, Arnold-Chiari malformation- 118 related, 378 Hypotropia, third cranial nerve palsy- Intracranial pressure related, 421 increase in Hypoxia, as headache cause, 407 cerebral astrocytoma-related, Hypoxia-ischemia, as cortical visual 273–274 impairment cause, 248–249, 252 Chiari malformation-related, 256 I “setting sun” sign associated IKBKAP gene mutations, 354 with, 383 Immunizations. See also Vaccines subacute headaches-related, as third cranial nerve palsy cause, 409, 410 136 relationship with venous Immunoglobulin A deficiency, pulsations, 416 357–358 Intrafacial synkinesis, 153 Immunosuppressive therapy, for Intraocular pressure (IOP) myasthenia gravis, 160–161 congenital glaucoma-related Inderal, 413 increase of, 48 Induced convergence retraction, fetal, 12–13 119–122 inhibition of, 33 Induction disorders, 256–258 Intravenous gammaglobulin, as Infantile nystagmus syndrome (INS), adrenoleukodystrophy treatment, 293, 294, 295, 296–300 340 Cogan’s “sensory,” 301 Iridiocyclitis, Fuch’s-like, 374–375 etiology of, 297–300, 319 Iridocorneal angle foveation periods in, 297 in congenital glaucoma 49 head oscillations in, 296 maturation of, 47–48 high-gain instability associated Iridocorneal endothelial syndromes, 48 with, 293, 298 Iris ocular motility analysis of, 297 assessment of, 70, 71 and, 294, 297 coloboma of, 33, 36–37, 38–40, 41, vision loss associated with, 71, 237–238 301–302 embryonic development of, 22–23 visual acuity testing of, 312 heterochromia of, Horner’s X-linked inheritance of, 316 syndrome-related, 419, 420 Infarction, as third cranial nerve palsy hypoplasia of, 35 cause, 136 unequal pigmentation of, 71 Infections Iris synechiae, 237–238 as Guillain-Barré syndrome risk Iris transillumination, ocular albinism- factor, 141–142 related, 428, 429 index 449

Iron deposition, in Hallervorden-Spatz Lens nucleus, 16, 17, 18, 19 disease, 355 Lens placode, 9, 10, 11, 12, 15 Lenticonus, anterior or posterior, 19, 35 J Leukemia, as hydrocephalus cause, 264 Jansky-Bielschowsky disease, 328, 334 Leukodystrophy Joubert’s syndrome, 260–261, 426 definition of, 330 globoid cell (Krabbe’s disease), K 330–331 Kayser-Fleischer rings, 324 metachromatic (sulfatide lipidosis), Kearns-Sayre syndrome, 165–169, 329, 327, 331–333 345 late-onset, 329 as chronic progressive external as optic atrophy cause, 262 ophthalmoplegia, 166–168 spongiform. See Canavan’s disease cranial nerve palsy associated with, sudanophilic. See Pelizaeus- 140 Merzbacher disease Keratan sulfates, corneal, 22 Leukoencephalitis, subacute sclerosing, sicca, 336 353 , 37 Leukoencephalopathy, spongiform. See differentiated from functional Canavan’s disease visual loss, 405 Leukomalacia, periventricular, 207, Keratopathy, neuroparalytic, 374 208, 212, 248, 249, 253, 265–266 Klippel-Feil syndrome, 174, 375, 383, Lewy bodies, brainstem-type, 355 387–392 LHON (Leber’s hereditary optic exotropia associated with, 382 neuropathy), 345, 347 platybasia/basilar impression Lid(s) associated with, 384 colobomas of, 36, 51–52 types of, 387, 389 cysts of, 33, 40, 42 Koerber-Salus-Elschnig syndrome, 119 embryonic development of, 15, 18, Krabbe’s disease, 330–331 29, 32 Kufs’ disease, 334 progressive hemifacial atrophy- related atrophy of, 373 L Lid lag, dorsal midbrain syndrome- Lacrimal dysfunction, progressive related, 120 hemifacial atrophy-related, 375 Lid retraction Lamina cribrosa, in optic nerve in convergence-retraction myelinization, 31–32 nystagmus, 307 Lasix, 410 darkness-induced, 66 Lawrence Moon Bardet Biedl syndrome, in dorsal midbrain syndrome, 120 103 in hydrocephalus, 383 Lead exposure, as headache cause, 407 Lid speculum, 81 Learning, role of vision in, 85 “Lightning eye movements,” 308 Leber, Theodor, 347 Linear sebaceous nevus syndrome, Leber’s congenital amaurosis, 36, 316, 221 426 Lipomas, saccade initiation failure photoreceptor dysgenesis associated with, 118 associated with, 302 Lissencephaly (agyria), 258–259 Leber’s hereditary as cortical visual impairment (LHON), 345, 347 cause, 248 Leigh, Denis, 346 Lithium, as downbeat nystagmus Leigh’s syndrome, 326, 345–347 cause, 307 Lens, embryonic development of, 9, 10, Long-lead burst neurons (LLBNs), role 11, 12, 15–20 in saccadic eye movements, 113 Lens bow, 18 Lorenzo’s oil, 341 450 index

Lovastatin, as adrenoleukodystrophy Magnifiers, 87–88, 89, 90 treatment, 340–341 Mannosidosis type II, 327 Lowe syndrome, 326 Marcus Gunn jaw-winking Low-illumination acuity testing, 65–66 (phenomenon), 152–153 Low-vision, in children, 85–91 inverse, 154 clinical assessment of, 86–90 Marcus Gunn pupil, evaluation of, clinical features of, 86 67–69 incidence of, 85–86 Marfan syndrome, referrals and Low-vision aids, 86–90 information resources regarding, Lyme disease 103 as progressive hemifacial atrophy Marginal bundle of Drualt, 29–30 cause, 373 Marin-Amat syndrome, 154 as sixth nerve palsy cause, 127 Measles Lymphoma as Guillain-Barré syndrome cause, as hydrocephalus cause, 264 141–142 as optic disc edema cause, 414 as subacute sclerosing Lysosomal storage diseases, 324, panencephalitis cause, 353–354 330–337 Meckel’s syndrome, 34 Lysosome ceridoses, 326, 328, 329 Medial longitudinal fasciculus lesions, Lysosome mucolipidoses, 325, 327 124–125 Lysosome mucopolysaccharidoses, Medulloblastomas, 279–280 327–328 as cranial sixth nerve palsy cause, Lysosome oligosaccharidoses, 325, 327, 127 329 Megacolon, Hirschsprung, 153 Lysosome sphingolipidoses, 325, 327, Megalencephaly, 262 329 Megalopapilla, 225–227 Melanin, deposition in the optic disc, M 235–237 Machado-Joseph disease, 356–357 MELAS (mitochondrial encephalopathy, Macrocephaly, 262–265 lactic acidosis, and strokelike Canavan’s disease-related, 350 episodes) syndrome, 345, 348 definition of, 262 Membrane proteins, 19 hydrocephalus-related, 262–263 Meningeal scarring, 263 Macrogyria (pachygyria), 259 Meningeal vascular hyperplasia, optic Macula nerve glioma-related, 274 differentiation of, 26–27 Meningiomas, 280–281 disorders of Meningitis, 269 coloboma of, 33, 36 as headache cause, 407 color vision defects associated impaired cerebrospinal fluid with, 80 absorption in, 264 toxoplasmosis, 424 internuclear ophthalmoplegia as visual loss cause, 81 associated with, 125 Macular scars, 237–238 Klippel-Feil syndrome-related, 389 Maculopathy, bull’s-eye, 334, 355 as meningeal scarring cause, 263, Magnetic resonance imaging (MRI) 264 of Arnold-Chiari malformations, as sixth nerve palsy cause, 127 379 Meningoceles, definition of, 380 functional, for cortical visual Meningoencephalitis, adenovirus- impairment diagnosis, 253 related, 270 of optic disc pseudopapilledema, Meningomyeloceles, 375, 380–383 417 Arnold-Chiari malformation- of optic nerve hypoplasia, 208, 209 related, 376 of septo-optic dysplasia, 208, 210 definition of, 380 index 451

Meningomyeloceles (Continued) Migraine equivalent, 408. See also ocular findings in, 381–383 Headaches, migraine treatment of, 383 Miller Fisher syndrome, 125, 141, Mental retardation 142–143 Aicardi’s syndrome-related, 238 relapsing, 143 congenital rubella syndrome- related, 268 Horner’s syndrome-related, 420 congenital toxoplasmosis-related, progressive hemifacial atrophy- 268 related, 373–374 delayed visual maturation-related, unilateral, 422 425 MIP26 gene, 16 megalencephaly-related, 262 “Mirror movement,” 389–390 referrals and information resources Mitochondria, 343 regarding, 103 Mitochondrial diseases, 324, 326, 328, Zellweger syndrome-related, 343 343–348 MERRF (myoclonic epilepsy with Mitochondrial encephalopathy, lactic ragged-red fibers), 344, 345, 348 acidosis, and strokelike episodes Mesencephalic-diencephalic junction (MELAS), 345, 348 lesions, 119 Mittendorf’s dot, 20 Mesencephalic reticular formation, Möbius syndrome, 173–175, 260 114 differentiated from myotonic Mesenchyme, 8, 13, 14, 15 dystrophy, 170 corneal, 21 Monocular acuity, in nystagmus, neural crest cell-derived, 21 312 Mesoderm, 1, 2, 3, 7, 8 Monocular elevation deficiency, 123 of Schlemm’s canal, 23 “Monostotic form fruste,” 373 Metabolic disorders, neurodegenerative, Morning glory optic disc anomaly, 324 213–219 Microcephaly, 259–260 differentiated from congenital cytomegalovirus optic disc coloboma, 223 infection-related, 268 peripapillary staphyloma, neuronal ceroid-lipofuscinosis- 223–224 related, 334 Morula, 1 Microgyria, congenital cytomegalovirus Motility disorders, ocular, 107–203 infection-related, 268 Arnold-Chiari malformation- Microphthalmia, 33 related, 378–379 colobomatous, 13, 33, 38–39, 40 assessment of, 71–73 with cyst syndrome, 40, disorders at the neuromuscular 42 junction, 154–163 noncolobomatous, 33 disorders of nerve and muscle, 165 ocular anomalies associated with, Kearns-Sayre syndrome, 33, 34, 36 165–169 Microphthalmos, 237–238 Möbius syndrome, 173–175 Micropsia, migraine headaches-related, myotonic dystrophy, 169–173 408 disorders of the central and Midbrain, embryonic development of, peripheral nervous systems, 5, 8 107–154 Midfacial anomalies anomalies of innervation, basal encephalocele associated 144–151 with, 217, 223, 224 internuclear ophthalmoplegia, holoprosencephaly-related, 257 124–125 morning glory optic disc anomaly ocular motor cranial nerve associated with, 217 palsies, 126–154 452 index

Motility disorders, ocular (Continued) Myopathies supranuclear disorders, congenital centronuclear 116–124 (myotubular), 174 disorders of the extraocular dysthyroid, 164 muscles, 163–164 Myositis, orbital, 164 electrophysiological analysis of, Myotonic dystrophy, 169–173, 329 314–315 meningomyelocele-related, 381 N Motor function testing, 83 Nail patella, 34 Motor system, ocular, development of, NARP (neuropathy, ataxia, and 299–300 pigmentosa), 345, 348 Msx2 transcription factor, 12 Nasal placodes, conjoined, 52, 53, 54 Mucolipidoses, 325, 327 Nastoff, Renee, 95–96 Mucolipidoses IH (Hurler syndrome), Nausea 327 migraine headache-related, 407, as platybasia or basilar impression 408 cause, 384 subacute headache-related, 409 Mucolipidoses II (Hunter syndrome), NCL. See Neuronal ceroid- 327 lipofuscinosis (Batten disease) Mucolipidoses III, 327, 328 Near reflex, spasm of, 123–124 Mucopolysaccharidoses, 327–328 Near triad, 114 corneal changes in, 262 Near visual function testing, 64 Mueller cells, 26 Neck, webbed, Klippel-Feil syndrome- Mueller’s muscle, in Horner’s related, 387, 388 syndrome, 419 Neisseria meningitidis infections, 136 Multiple sclerosis, internuclear Neonates, visual impairment in, 424– ophthalmoplegia associated with, 125 427 Mumps, as Guillain-Barré syndrome Nephronophthisis, 119 risk factor, 141–142 Nestin, 19 Muscular dystrophy, facio-scapulo- Neural crest, as ocular tissue source, 7, humeral, 174 8, 10 Myasthenia gravis Neural crest cells, 8 autoimmune (acquired), 156–161 in anterior segment dysgenesis, 47 differentiated from internuclear Neural folds, 3, 4, 7 ophthalmoplegia, 125 Neural integrator, 113 Mydriasis definition of, 114, 293 atropine poisoning-related, 422, dysfunction of, as nystagmus 423 cause, 293 progressive hemifacial atrophy- evaluation of, 115 related, 373–374 Neural plate, 3, 4, 7 Myelinated nerve fibers, in the optic Neural tube, 3, 4, 7 disc, 414, 416 Neurites, retinal, 26 Myelinization Neuritis, optic of the brain, 256 differentiated from Leber’s of the optic nerve, 31 hereditary optic neuropathy, of optic nerve fibers, 31–32 347 past the lamina cribrosa, 31–32 viral, 269 Myelin production, disorders of, Neuroaxonal dystrophy, 328, 335–337 349–353 Neuroblastomas, 153, 279, 280 Myoclonic jerks, neuronal ceroid- occult, 424 lipofuscinosis-related, 334 opsoclonus associated with, 308 Myoclonus epilepsy with ragged-red Neurocranial defects, with neuro- fibers (MERRF), 344, 345, 348 ophthalmic abnormalities, 371–399 index 453

Neurocranial defects, with Neurofibromatosis neuro-ophthalmic abnormalities referrals and information resources (Continued) regarding, 104 diseases of cervico-occipital type 1, 153 proximity (“bullneck chiasmatic gliomas associated anomalies”), 375–392 with, 276 Arnold-Chiari malformations, hamartomatous lesions 115, 256, 257, 264, 307, associated with, 276–277 375–380, 381, 388 meningiomas associated with, cranial-vertebral abnormalities, 280 383–387 optic gliomas associated with, Klippel-Feil syndrome, 375, 276–277 383, 387–392 optic nerve gliomas associated meningomyelocele, 375, with, 274, 276 380–383 Neurological examinations platybasia and basilar general, 82–83 impression, 375, 383–387 for migraine headache assessment, progressive hemifacial atrophy 412 (Parry-Romberg disease), Neuromuscular blocking agents, as 371–375 myasthenia gravis cause, 156 Neurocristopathies, ocular, 47 Neuromuscular junction disorders, Neurodegeneration with brain iron 154–163 accumulation type 1 (Hallervorden- autoimmune (acquired) myasthenia Spatz disease), 354–355 gravis, 156–161 Neurodegenerative conditions, with botulism, 162–163 ophthalmic manifestations, 324–370 congenital myasthenic syndrome, disorders of myelin production, 155–156 349–353 familial infantile myasthenia Canavan’s disease, 349–350 gravis, 154–155 Pelizaeus-Merzbacher disease, transient neonatal myasthenia, 154 326, 330, 333, 350–353 Neuromyopathies, 140–141 hereditary ataxia syndromes, Neuronal ceroid-lipofuscinosis (Batten 355–358 disease) juvenile, 326, 329, 333–335, ataxia telangiectasia, 357–358 426–427 classification of, 355–356 late, 328 spinocerebellar ataxia, 356–357 Neuron-specific enolase, 23 leukodystrophies, 330–337 Neuro-ophthalmology examinations, lysosomal storage diseases, 324, pediatric, 62–84 330–337 color vision assessment in, 79–81 mitochondrial diseases, 343–348 funduscopic examination in, 81–82 onset of general neurological assessment in, in infancy, 325–326 82–83 in late childhood or medical history component of, adolescence, 329 62–63 in late infancy or early nystagmus assessment in, 74–76 childhood, 327–328 ocular motility assessment in, of unknown etiology, 353–355 71–73 familial dysautonomia, 354 pupillary examination in, 67–71 Hallervorden-Spatz disease, afferent pupillary defect 329, 337, 354–355 (Marcus Gunn pupil) subacute sclerosing assessment, 67–69 panencephalitis, 329, anisocoria assessment, 70 353–354 iris defects assessment, 71 454 index

Neuro-ophthalmology examinations, general techniques in, 310–311 pediatric (Continued) motility examination in low-vision infants, 68 techniques in, 313–314 paradoxical pupillary ocular motility recordings in, constriction in darkness test, 314–315 67, 68, 69–70 refraction examination visual acuity assessment in, 63–67 techniques in, 312–313 binocular visual acuity vision examination techniques assessment, 63–64 in, 310–312 low-illumination acuity clinical features of, 293–308 testing, 65–66 congenital, 295 near visual function testing, 64 congenital motor, 75 optokinetic nystagmus (OKN) conjugate, 289, 291 testing, 64–65 convergence, Arnold-Chiari visual evoked potentials malformation-related, 377–378 (VEPs), 66–67 definition of, 289 visual fields testing in, 76–79 description of, 74–75 Neuropathies diagnosis of, 74–76 generalized, 141 differentiated from saccadic Leber’s hereditary optic (LHON), oscillations, 291–292, 308–310 345, 347 downbeat peripheral, mitochondrial diseases- Arnold-Chiari malformation- related, 345 related, 377 Neuropathy, ataxia, and retinitis meningomyelocele-related, 381 pigmentosa (NARP), 345, 348 platybasia/basilar impression- Niemann-Pick disease related, 386 saccade initiation failure associated dysconjugate, 289, 291 with, 118 etiology of, 292–293 type IS, 327 eye movements in type IIS, 327 evaluation of, 313–315 Night blindness, X-linked congenital saccadic, 308–310 stationary, 234 fast phase of, 109 Nitrates, as headache-precipitating future research in, 318–319 factor, 413 gaze-evoked, 115, 158, 293, Nucleus prepositus hypoglossi, 293 305–306 Nucleus reticularis tegmenti pontis endpoint, 305 (NRTP), 114 gaze-paretic, 293, 305 Nystagmus, 289–308 head positions associated with, acquired, 310 74–75, 312 convergence-retraction, horizontal, Arnold-Chiari 307–308 malformation-related, 377 differentiated from benign, idiopathic motor, 295 293–296 jerk (fast phase), 74, 75, 289, 291 downbeat, 307 Arnold-Chiari malformation- localizing forms of, 306–308 related, 378–379 pendular, 306 left, 75–76 see-saw, 306, 307 Klippel-Feil syndrome-related, 391 Alexander’s law of, 74–75 latent, 293, 301 benign, 310 latent/manifest latent (LN/MLN), differentiated from acquired 293, 294, 296, 300–301 nystagmus, 293–294 nasotemporal optokinetic brain tumor-related, 271 imbalance in, 319 clinical assessment of, 310–315 meningioma-related, 281 index 455

Nystagmus (Continued) cyclopia, 36, 37, 52 neonatal and early childhood, dermoids and dermolipomas, 42–44 293–296 encephalocele, 54 benign, 310 exencephaly (anencephaly), 54 neuroaxonal dystrophy-related, 336 eye, brain, and face malformation ocular albinism associated with, 71 complexes, 51–52 optokinetic , 54–55 Arnold-Chiari malformation- holoprosencephaly, 52–54 related, 378 microphthalmia, 33 evaluation of, 113 persistent hyperplastic primary myasthenia gravis-related, 158 vitreous, 50 in saccade initiation failure, pupillary anomalies, 49–50 116–117 retinal dysplasia, 50 testing of, 64–65 sclerocornea, 46–47 vertical, 65 synophthalmia, 52 pathological, 289 Ocular tilt reaction, 134 periodic alternating (PAN), 305 Oculocephalic maneuver. See Doll’s physiological, 289 head maneuver platybasia/basilar impression- Oculography, infrared reflectance, 314, related, 386 315 prevalence and incidence of, 292 Oculomotor nerve. See Cranial nerve prognosis of, 318 III rebound, 115 Oculomotor synkinesis, 137–138, 151 retraction, Arnold-Chiari Oculosympathetic pathway, 417–418 malformation-related, 377–378 Odontoideum, platybasia/basilar see-saw, Arnold-Chiari impression-related, 385 malformation-related, 378 Oligodendrogliomas, 278–279 of skew, Arnold-Chiari Oligosaccharidoses, 325, 327, 329 malformation-related, 378–379 Olivopontocerebellar atrophy (OPCA), slow phase, 289 356 spasmus nutans, 74, 294, 302–303 Omnipause neurons, role in saccadic torsional, Arnold-Chiari eye movements, 113 malformation-related, 378 One and one-half syndrome, 158 treatment of, 316–318 Ophthalmic artery, fetal, 27 types of, 289, 290 Ophthalmoplegia upbeat, Arnold-Chiari chronic progressive external, malformation-related, 378 166–168, 329, 345 vestibular, 292 generalized neuropathies-related, central, 306 141 evaluation of, 113 internuclear, 124–125 peripheral, 306 Arnold-Chiari malformation- voluntary, 309–310 related, 378 Nystagmus optokinetic testing. See Klippel-Feil syndrome-related, 391 Optokinetic nystagmus (OKN) progressive hemifacial atrophy- testing related, 373 Ophthalmoscopy, indirect, 81–82 O Opsoclonus, 308 Ocular dysgenesis, syndromes of, 33–55 Optic atrophy anterior segment dysgenesis, 47–48 adrenoleukodystrophy-related, coloboma, 33, 36–42 338 congenital glaucoma, 48–49 Arnold-Chiari malformation- cornea plana, 46 related, 377 cryptophthalmos, 44–46 brain lesions-related, 255 456 index

Optic atrophy (Continued) congenital optic disc infantile nystagmus syndrome- pigmentation, 235–237 related, 301–302 congenital tilted disc leukodystrophy-related, 262 syndrome, 231–235 lysosome sphingolipidoses-related, excavated optic disc 325 anomalies, 213–214 meningomyelocele-related, 382 general principles for, 204–205 mitochondrial diseases-related, 345 megalopapilla, 225–227 platybasia/basilar impression- morning glory disc anomaly, related, 386 214–219 Optic cup optic disc coloboma, 206, embryonic development of, 7, 213–214, 219–221, 223, 230, 10–12, 22, 23, 26 231, 237 in optic disc with papilledema, 416 optic nerve hypoplasia, Optic disc 205–213 blurred margins of, 416 optic pits, 227–231 colobomas of, 206, 213–214, papillorenal syndrome, 219–221, 237 241–242 differentiated from morning peripapillary staphyloma, glory disc anomaly, 223 213–214, 222–225 optic pits associated with, 230, V- or tongue-shaped 231 infrapapillary drusen of, 414, 416, 417 depigmentation, 240 edema of, 413–414 disorders of elevation of, 414, 415 color vision defects associated hypoplasia of, 37 with, 80 large, 204 as neonatal visual impairment papilledema of cause, 424 differentiated from “paradoxical pupillary pseudopapilledema, 414, 415 constriction to darkness” differentiated from response in, 70 pseudotumor cerebri, 417 embryonic development of, 12, pseudopapilledema of, 415–417 23–24, 30–32 pseudotumor cerebri-related edema gliomas of, 274, 276–278 of, 409, 410 differentiated from small, 204–205 gangliogliomas, 280 “swollen,” 413–417 orbital, 226 Optic fissure spontaneous regression of, closure defects of. See also 277 Colobomas treatment of, 277–278 dermoids as, 42–43 hypoplasia of, 429–430 failed or late closure, 33 cerebral visual impairment- embryonic development of, 12–13, related, 431–432 15 Marcus Gunn pupil-related Optic nerve dysfunction of, 67–69 astrocytomas of, 274 meningiomas of, 281 colobomas of, 33, 36, 38–39, 40, 41, myelinization of, 31 71 Optic nerve sheath, meningiomas of, as neonatal visual impairment 281 cause, 424 Optic pits, 227–231 congenital abnormalities of, Optic stalk, 12, 13, 30 204–246 Optic sulci, embryonic development of, Aicardi’s syndrome, 237–239 4, 5, 6, 8, 9, 10 index 457

Optic vesicle Paradoxical pupillary constriction in in colobomatous microphthalmia, darkness test, 67, 68, 69–70 33 Paralytic extraocular conditions, 73 embryonic development of, 8–12 Paramedian pontine reticular Optokinetic nystagmus (OKN) drum, formation, 111, 112, 113, 121 401, 405, 430 Paredrine testing, 420, 421 Optokinetic nystagmus (OKN) testing, Parents, response to diagnosis of child’s 64–65, 401 disability for cerebral visual impairment grieving process, 96–97, 98 assessment, 430 physician’s role in, 98–101 for functional visual loss resources and referrals for, 101–106 assessment, 401, 405 Parinaud syndrome. See Dorsal Optokinetic testing, 73 midbrain syndrome Oscillations, ocular. See also Eye Parks-Bielschowsky three-step test, 133 movements PAX6 gene, 12, 15, 16 differentiated from nystagmus, PAX2 gene mutations, 379 291–292 Pelizaeus-Merzbacher disease, 326, 330, Oscillopsia, 294, 297, 303–304, 316–317 333, 350–353 Osteitis deformans, 384 dyemyelination in, 351–352 Osteogenesis imperfecta, 384 histopathology of, 351–352 Osteomalacia, 384 PLP (proteolipid apoprotein) gene Otoliths, 109 mutations in, 352–353 Oxford Registry of Early Childhood prenatal diagnosis of, 352–353 Impairments, 248 types of, 350 Oxygen, effect on retinal angiogenesis, D-Penicillamine, as myasthenia gravis 28 cause, 156–157 Pericytes, 28 P Perimetry, 79 Pachygyria (macrogyria), 259 Periodic alternating gaze deviations, Paget’s disease, as platybasia or basilar Arnold-Chiari malformation-related, impression cause, 384 378 Palmitoyl protein thioesterase 1, 329, Peroxins, abnormalities of, 338 335 Peroxisomal biogenesis disorders (PBD), Pancoast’s tumor, 419 338 Papilledema Peroxisomal diseases, 324, 326, 328, Arnold-Chiari malformations- 329, 330, 337–343, 427 related, 256 biomarkers for, 337 brain lesion-related, 255 neonatal adrenoleukodystrophy, brainstem astrocytoma-related, 272 427 brain tumor-related, 271, 409 Refsum’s disease, 326, 329, 337, germinoma-related, 282–283 338, 341–342, 427 meningomyelocele-related, 381 X-linked adrenoleukodystrophy, of the optic disc, 413–414 337. 338–341 differentiated from Zellweger syndrome pseudopapilledema, 414, 415 (cerebrohepatorenal syndrome), differentiated from 338, 342–343, 427 pseudotumor cerebri, 417 Peroxisome ghosts, 342 platybasia/basilar impression- Peroxisomes, 337, 427 related, 386 Persistent hyperplastic vitreous (PHVP), Papillitis, as optic disc edema cause, 30, 50 414 microphthalmia-associated, 33 Papillomas, of the choroid plexus, 264 Pertussis, as Guillain-Barré syndrome Papillorenal syndrome, 241–242 risk factor, 141–142 458 index

Peter’s anomaly, 34, 46, 47 Posterior fossa, in platybasia and Phakinin, 19 basilar impression, 384 Phakomatoses, 258 Posterior fossa disease, as nystagmus Phenothiazines, as myasthenia gravis cause, 305 cause, 156 “Posterior pituitary bright spot,” 208, 4-Phenylbutyrate, as 209, 210 adrenoleukodystrophy treatment, 340 Posterior polymorphous dystrophy, 48 Phenylephrine, as unilateral mydriasis Premature infants cause, 422 cortical visual impairment (CVI) Phospholine iodide, as unilateral in, 247 mydriasis cause, 422 intracranial hemorrhage in, 267 optic disc pigmentation in, 235 achromatopsia-related, 427 tonic downgaze in, 123 Adie’s tonic pupil-related, 421, 424 Prematurity, retinopathy of. See refractive errors-related, 317 Retinopathy, of prematurity Physician-parent interactions, Pretectal sign, 119 guidelines for, 92–101 Primary cornea stroma, 20 Phytanic acid Primary lens fibers, 16 as peroxisomal disease biomarker, Primitive streak, 1, 2 337 4-Prism diopter base-out prism test, as Refsum’s disease biomarker, 401–402 341–342 Professional kindness, in physician- Phytanoyl CoA hydroxylase, 341–342 parent interactions, 100 Pigmentation. See also Depigmentaion; Progressive hemifacial atrophy (Parry- Hyperpigmentation; Romberg disease), 371–375 Hypopigmentation etiology of, 372–373 congenital optic disc, 235–237 ocular findings in, 373–375 Pigment epithelium derived factor Prostigmin, 159 (PEDF), 28 Proteoglycans, corneal, 22 Pilocarpine solution, 421, 422, 424 Proximal myotonic myopathy, 169, as unilateral mydriasis cause, 422 170–171, 172 Pineal gland, germinomas of, 281–282 Pseudoabducens palsy, 121–122 Pinealomas, 282 Pseudocoloboma, progressive as dorsal midbrain syndrome cause, hemifacial atrophy-related, 373 120 Pseudogliomas, 237–238 Pipecolic acid, as peroxisomal disease Pseudo-Hurler polydsytrophy, 327 biomarker, 337 Pseudointernuclear ophthalmoplegia, PITX2 homeobox transcription factor, 142 48 Pseudoisochromatic plates, 80 Plano lens, 403, 411 Pseudopapilledema Plasmalogen deficiency, 337 differentiated from papilledema, Platelet-derived growth factor, 19 414, 415 Platybasia, 375, 383–387 Klippel-Feil syndrome-related, 391 renal-coloboma syndrome-related, ophthalmoscopic characteristics of, 379 415–417 PLP (proteolipid apoprotein) gene Pseudopolycoria, 50 mutations, 352–353 Pseudotumor cerebri, 409–410 Poikilothermia, 210 as optic disc edema cause, 414 Poland’s syndrome, 174 Psychiatric consultations, in functional Polio virus, 270 visual loss treatment, 406 Polycoria, 49–50 Psychiatric disorders, as headache Polyneuritis, acute postinfectious, cause, 411 141 colli, 387, 388 index 459

Ptosis smooth pursuit, 109 extraocular muscle fibrosis-related, neural pathways for, 113–114 164 purpose of, 113 Horner’s syndrome-related, 419, Pyruvate carboxylase deficiency, 346 420 Pyruvate dehydrogenase deficiency, 346 myasthenia gravis-related, 157, 158, 159 Q myotonic dystrophy-related, Quinine, as myasthenia gravis cause, 172–173 156 nonocular anomalies associated “Quiver movements,” 158 with, 35 platybasia/basilar impression- R related, 386 Radiation exposure, as microcephaly progressive hemifacial atrophy- cause, 259 related, 373 Radiation therapy third cranial nerve palsy-related, for brainstem astrocytomas, 272 421 for hypothalamic astrocytomas, p27(Kip 1), 50 274 Pupillary examination, 67–71 Ragged-red fibers, 166, 167 afferent pupillary defect (Marcus definition of, 344 Gunn pupil) assessment in, mitochondrial diseases-related, 345 67–69 Rathke’s pouch anisocoria assessment in, 70 as craniopharyngioma origin site, for cerebral visual impairment 283, 284 evaluation, 431 cysts of, 284 for functional visual loss Reading, low-vision aids for, 87–88, assessment, 401, 405 89–90 iris defects assessment in, 71 Referrals, sources of, 101–106 paradoxical pupillary constriction Refraction in darkness test in, 67, 68, 69–70 cycloplegic, 71, 313, 411 Pupillary membranes, persistent, 20, 21 for neonatal visual impairment Pupillomotor system, neuroanatomy of, evaluation, 425 417–419 evaluation of, in nystagmus patients, 312–313 Adie’s (tonic), 70 subjective, in nystagmus patients, as anisocoria cause, 421–422, 312–313, 317 424 Refractive errors progressive hemifacial atrophy- anomalous head positioning in, related, 373–374 316, 317 Argyll-Robertson, 373–374 hypoaccommodation associated brain lesion-related afferent defects with, 317 of, 255 Leber’s amaurosis-related, 426 eccentric location (corectopia) of, meningomyelocele-related, 382 49 nystagmus-related, 310, 312–313, Hutchinson, 421, 424 317 Marcus Gunn, 67–69 treatment of, 316 multiple (polycoria), 49–50 oscillopsia, 316–317 tectal, 122 photophobia associated with, 317 of unequal size. See Anisocoria associated with, 317 Purkinje cells, 357 vision loss associated with, 316, Pursuit system 317 dysfunction of, as nystagmus treatment of, 317–318 cause, 292 Refsum, Sigvald, 341 460 index

Refsum’s disease Retrolenticular vascular membrane, 50 infantile, 326, 338 Rheumatoid arthritis, 384 prenatal diagnosis of, 342 Rhizomelic chondrodysplasia punctata, onset in late childhood or 338 adolescence, 337, 341–342 Rickets, 384 Renal anomalies, papillorenal Rieger’s syndrome, 47 syndrome-related, 241 PITX2 mutation-related, 48 Renal calculi, 380 Riley-Day syndrome (familial Renal-coloboma syndrome, 379 dysautonomia), 328, 354 Retina Rocking mirror test, for functional avascular, in neonates, 28 visual loss assessment, 401, 402, disorders of 405 color vision defects associated Rod monochromatism (achromatopsia), with, 80 316, 427–428, 431 dysplasia, 50 photoreceptor dysgenesis as neonatal visual impairment associated with, 302 cause, 424, 426–427 Rods, embryonic development of, embryonic development of, 12–13, 26–27 16, 24–28 Royal Air Force near point rule, 411 vasculature development, Rubella, as congenital neurologic 27–28 infection, 268 neurosensory, 12, 13, 14 Rubinstein-Taybi syndrome, 34, 153 Retinal arteries, embryonic development of, 28 S Retinal degeneration, 345 Saccade initiation failure, 116–119 , 237–238 acquired, 116, 117 morning glory optic disc-related, congenital, 116, 117 216–217 Saccades optic pits-related, 228 abnormalities of, 113 papillorenal syndrome-related, 241 Arnold-Chiari malformation- serous, peripapillary, 241 related, 378 Retinal pigment epithelium (RPE) clinical assessment of, 109 defects of, colobomas associated command-generated, 109 with, 37 differentiated from nystagmus, embryonic development of, 11, 12, 308–310 14, 17, 24, 25, 26 downward, brainstem pathways in, Retinal rest, as functional visual loss 121 treatment, 406 involuntary, 109 Retinoblastomas, 279 memory-guided, 109 referrals and information resources nystagmus-related, 308–310 for, 105 physiology of, 110–113 Retinopathy reflex, 109 pigmentary, 37 elicitation of, 113 neuronal ceroid lipofuscinosis- spontaneous, 109 related, 334 upward, brainstem pathways in, of prematurity 121 cortical visual impairment- voluntary, 109 related, 247, 251, 252 Saccadic intrusions in full-term infants, 28 definition of, 291 oxygen concentration in, 28 differentiated from nystagmus, , optic pits-related, 228, 291–292 229 Sanfilippo syndrome, 328 Retinoscopy, noncycloplegic, 403 Santavouri-Haltia disease, 326, 334 index 461

Schindler’s neuroaxonal dystrophy, 327, Silicone scleral search coil, 314, 315 336 Sinus arrhythmias, Arnold-Chiari Schizencephaly, 208 malformation-related, 379 as cortical visual impairment Sinusitis, as headache cause, 407 cause, 248 Skew deviations Schlemm’s canal, 23 Arnold-Chiari malformation- absent or abnormal lining of, 48 related, 378 School avoidance, as headache cause, relationship with superior oblique 410, 411 overaction, 382–383 Schwalbe’s line, anterior displacement Slit lamp examination, of of, 47 pseudopapilledema, 415 Sclera, embryonic development of, Smooth pursuit, 109 23–24 neural pathways for, 113–114 Sclerocornea, 46–47 purpose of, 113 Scleroderma, linear alopecia variant of, Solvent exposure, as headache cause, 373, 374 407 , Klippel-Feil syndrome- Somites, embryonic development of, 5, related, 389 8 Somitomeres, 8, 32 fortification, 408 Sonic hedgehog gene mutations, 52 myelinated nerve fibers-related, 31 Spasmus nutans, 74, 294, 302–303 Secondary lens fibers, 18–19 Spasticity Sedatives, as nystagmus cause, 305, 307 neuronal ceroid-lipofuscinosis- Seizures related, 334 adrenoleukodystrophy-related, 427 Pelizeaus-Merzbacher disease- cerebral astrocytoma-related, 274 related, 351 congenital rubella syndrome- Sphingolipidoses, 325, 327, 329 related, 268 Spielmeyer-Vogt-Sjogren disease, 334 congenital toxoplasmosis-related, Spina bifida 268 A-pattern strabismus associated delayed visual maturation-related, with, 382 425 congenital rubella syndrome- megalencephaly-related, 262 related, 268 mitochondrial diseases-related, definition of, 380 343, 345 hydrocephalus associated with, 264 neuronal ceroid-lipofuscinosis- Spinocerebellar ataxia, 356–357 related, 334 genetic anticipation in, 356 progressive hemifacial atrophy- Spin test, 115, 126 related, 371–372 Sprengel’s deformity, Klippel-Feil Zellweger syndrome-related, 343, syndrome-related, 389, 391 427 Square-wave jerks, 308–309 Semicircular canals, 108–109 Staphyloma, peripapillary, 213–214, Senior-Loken syndrome, 431 222–225 Septo-optic dysplasia, 35, 207–208, 257, Stereoscopic examination, of 259 pseudopapilledema, 415 overlap with Aicardi’s syndrome, Steroids, as myasthenia gravis 239 treatment, 160–161 Setting sun sign, 121, 383 Storage diseases, lysosomal, 324, Shaken baby syndrome, 267 330–337 Short stature, mitochondrial diseases- Strabismus related, 345 A-pattern, 382–383 Sialidosis type II, 329 Arnold-Chiari malformation- Siemerling, Ernst, 338 related, 377, 378 462 index

Strabismus (Continued) Syringohydromyelia, Arnold-Chiari assessment of, 71 malformation-related, 376, 378 associated with, 35 Syringomelic syndrome, macrocephaly-related, 262 platybasia/basilar impression-related, Marcus Gunn jaw-winking-related, 386 152–153 Syringomyelia, 256, 257 meningomyelocele-related, 382 as downbeat nystagmus cause, myasthenia gravis-related, 161 307 nasotemporal optokinetic Klippel-Feil syndrome-related, 389 imbalance associated with, 319 primary deviation, 126 T refractive errors-related, 317 Tay-Sachs disease in saccade initiation failure, 118, cherry-red spots in, 324, 325 119 retinal changes in, 262 secondary deviation, 126 Telescopes, monocular, 88–89 Strabismus surgery, in myotonic Television, closed-circuit, 89, 90 dystrophy, 172 Tensilon test, 132, 158–159, 163 Stress, as headache-precipitating factor, contraindications to, 158–159 412–413 Teratomas, 282 Striate cortex, hypoxic-ischemic injury Thalidomide, as adrenoleukodystrophy to, 248–249, 250 treatment, 340–341 Stroke Thompson’s flowchart, for anisocoria as cerebral visual impairment evaluation, 423 cause, 430 Thymoma, 160 as dorsal midbrain syndrome cause, Tigan, 413 120, 122 Tilted disc syndrome, congenital, Subacute inclusion body encephalitis, 231–235 353 Tissue of Kuhnt, 30–31 Subacute sclerosing panencephalitis, Toxoplasmosis, 257 329, 353–354 congenital neurologic, 268 Superior cervical ganglion, 417–418 as holoprosencephaly cause, 257 Superior colliculi, 110 macular, 424 Superior oblique overaction, Transforming growth factor, 19 relationship with skew deviations, Transient fiber layer of Chievitz, 24, 382–383 25, 26 Superior oblique tenotomy, bilateral, Trauma, as cerebral visual impairment 383 cause, 430 Superior rectus Trichomatic theory, of color Marcus Gunn jaw-winking-related photoreception, 79 palsy of, 152–153 Trigemino-abducens synkinesis, 153 weakness of, 123 Trisomy 13, 257 Supranuclear eye movements. See Eye Trochlear nerve. See Cranial nerve IV movements, supranuclear Trophononeurosis facialis, 371 Suprasellar tumors, congenital tilted Tropicamide solution, 404 optic discs associated with, 233, 234 Trust, in physician-parent interactions, Swinging flashlight test, 67–69 99 Sylvian aqueduct sign, 119 Truth, in physician-parent interactions, Synapses, embryonic formation of, 98 256 Tubular visual field, 404 Synergistic divergence, 150–151 Tumor necrosis factor, 339 Synophthalmia, 52 Tunica vasculosa lentis, 19–20, 21 , as holoprosencephaly cause, Twin pregnancy, as cortical visual 257 impairment cause, 249–250 index 463

U Viral infections U fibers, 333, 339 as Guillain-Barré syndrome cause, Uhthoff’s phenomenon, 347 141–142 as progressive hemifacial atrophy as headache-like pain cause, 406 cause, 373 progressive hemifacial atrophy- as sixth nerve palsy cause, 129 related, 375 Vision, role in learning, 85 Vision loss. See Visual loss V Visual acuity deficits Vaccines, effects on ocular motor binocularly-decreased, 400, 405 nerves, 270 brain lesion-related, 255 Varicella virus infection congenital toxoplasmosis-related, congenital neurologic, 268, 269 268 as Guillain-Barré syndrome risk monocularly-decreased, 400, 405 factor, 141–142 Visual acuity testing, 63–67 Vasculature, retinal, development of, binocular, 63–64, 312 27–28 for cerebral visual impairment Vasobliteration, in retinopathy of evaluation, 430–431 prematurity, 28 computerized video techniques in, Vasoendothelial growth factor (VEGF), 405 28 for functional visual loss Vectograph test, 405 evaluation, 401–404 Venous pulsations, ocular, 416 direct methods, 403–404 Ventriculoceles, 376 indirect methods, 401–403 Ventriculo-peritoneal shunt blockage, observation methods, 401 248, 249 supportive findings in, 401, Verapamil, 413 404 Vergences, 109, 114 low-illumination acuity testing in, in dorsal midbrain syndrome, 120 65–66 insufficiency of, 158 monocular, 63–64 Vertebral basilar vascular insufficiency, near visual function testing in, 64 385 for nystagmus evaluation, 310–312 Vertical gaze optokinetic nystagmus (OKN) meningomyelocele-related palsy of, testing in, 64–65 381 visual evoked potentials (VEPs) in, transient abnormalities of, 122–123 66–67 Vertical retraction syndrome, 151–152 Visual auras, migraine headache- Very-long-chain fatty acids, in related, 407–408 peroxisomal diseases, 337, 339, 340 Visual cortex injuries, as visual dietary restriction of, 341 impairment cause, 430–432 Vestibular apparatus Visual evoked potentials (VEPs), 66–67 dysfunction of, as nystagmus in cerebral visual impairment, 431 cause, 292, 305, 306 in delayed visual maturation, 425 role in eye movements, 108–109 in infantile Batten disease, 427 Vestibular-ocular reflex (VOR), 72, 73 in Joubert’s syndrome, 426 in Arnold-Chiari malformation, Visual evoked response (VER) testing, 378 for functional visual loss evaluation, assessment of, 109, 115 402–403 cancellation of, 109 Visual field defects in saccade initiation failure, 118 binocular, 78 Vestibulocochlear nerve. See Cranial brain lesion-related, 255 nerve VIII cerebral astrocytoma-related, Vimentin, 12, 19 273–274, 274 464 index

Visual field defects (Continued) Vitreous migraine headaches-related, 408 angiogenesis inhibition in, 28 pseudotumor cerebri-related, 409– embryonic development of, 17, 410 29–30 Visual field loss, Marcus Gunn pupil persistent hyperplastic (PHVP), 30, associated with, 69 33, 50 Visual field testing, 76–79 Vogt-Koyanagi-Harada syndrome, “finger counting” technique in, fundal hypopigmentary changes in, 78–79 375 “finger mimicking” technique in, Vomiting 77–78 migraine headache-related, 407, fixation in, 78, 79 408 for functional visual loss subacute headache-related, 409 assessment, 404 Visual function testing, for low-vision W assessment, 86–90 Waardenburg syndrome, 153 Visual impairment, cerebral, 430–432 Walker-Warburg syndrome, 221 Visual loss Wall-eyed bilateral internuclear functional, 400–406 ophthalmoplegia (WEBINO) assessment of, 401–404 syndrome, 125 bilateral, 400 Weiger’s ligament, 30 differential diagnosis of, 405 Wernicke’s disease, 346 monocular, 400 Wildervanck’s syndrome, 389, 390, 391, patient evaluation in, 404–405 392 secondary gain associated Wilson’s disease, 329, 346 with, 400–401, 406 Kayser-Fleischer rings in, 324 treatment of, 406 Wine, as headache-precipitating factor, infantile nystagmus syndrome- 413 related, 301–302 Wirt circles, 402 in neonates, 424–427 Worth four-dot test, 402 neuroaxonal dystrophy-related, 336 X referrals and information resources X-linked inheritance regarding, 104–105 of achromatopsia, 428 refractive errors-related, 316, of nystagmus, 316 317 Visual maturation, delayed, 266–267 Y differentiated from cortical visual Y sutures, 18–19 impairment, 250–251 Visual maturation, delayed (DVM), Z 425 Zellweger syndrome Vitiligo, fundal hypopigmentary (cerebrohepatorenal syndrome), 326, changes in, 375 338, 342–343