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Understanding Nystagmus:Understanding Nystagmus:
Diagnosis,Diagnosis,Related Disorders,Related Disorders,
Treatment, andTreatment, andResearchResearch
MitraMitra MaybodiMaybodi, MD, MD
Childrens National Medical CenterChildrens National Medical CenterGeorge Washington University School ofGeorge Washington University School of
Medicine and Health SciencesMedicine and Health Sciences
Washington, DCWashington, DC
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Physiologic NystagmusPhysiologic Nystagmus
EndEnd--pointpoint(eccentric(eccentric--gaze)gaze)
nystagmusnystagmus
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Physiologic NystagmusPhysiologic Nystagmus
Vestibular NystagmusVestibular Nystagmus
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Physiologic NystagmusPhysiologic Nystagmus
Optokinetic Nystagmus
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InfantileInfantile--OnsetOnset
NystagmusNystagmus
Congenital nystagmusCongenital nystagmus
(Infantile nystagmus syndrome*)(Infantile nystagmus syndrome*)
Latent / manifest latent nystagmusLatent / manifest latent nystagmus
((FusionalFusional maldevelopmentmaldevelopment nystagmusnystagmussyndrome*)syndrome*)
SpasmusSpasmus nutansnutans
((SpasmusSpasmus nutansnutans syndrome*)syndrome*) OthersOthers: congenital see: congenital see--saw, downbeat,saw, downbeat,
upbeat, or familial verticalupbeat, or familial vertical pendularpendular(*: Proposed by Classification of Eye Movement(*: Proposed by Classification of Eye Movement
Abnormalities and Strabismus Working Group, NIH, 2001)Abnormalities and Strabismus Working Group, NIH, 2001)
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Acquired NystagmusAcquired Nystagmus
SeeSee--saw nystagmussaw nystagmus Periodic alternating nystagmusPeriodic alternating nystagmus
Downbeat nystagmusDownbeat nystagmus Upbeat nystagmusUpbeat nystagmus
GazeGaze--evoked nystagmusevoked nystagmusVestibular (central or peripheral)Vestibular (central or peripheral)
nystagmusnystagmus
Others, including acquiredOthers, including acquired pendularpendular formsforms
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VIDEOSVIDEOS
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Congenital Nystagmus:Congenital Nystagmus:
Related DisordersRelated Disorders
AmblyopiaAmblyopia: poor vision caused by: poor vision caused byabnormal visual development,abnormal visual development,due to abnormal visualdue to abnormal visualstimulationstimulation
Susceptible ages: birth to 7 or 8Susceptible ages: birth to 7 or 8yearsyears
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Congenital Nystagmus:Congenital Nystagmus:RelatedRelated Disorders
Strabismus
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Congenital Nystagmus:Congenital Nystagmus:RelatedRelated Disorders
Albinism
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Congenital Nystagmus:Congenital Nystagmus:
RelatedRelated DisordersOptic Nerve Hypoplasia
i lC i l N
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Congenital Nystagmus:Congenital Nystagmus:
RelatedRelated Disorders
Aniridia
C it l
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Rods&
Cones
Congenital
Nystagmus:Related
Disorders
RetinalDystrophies
RodCone
Peters AnomalyCongenital
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Peters AnomalyCongenital Corneal Opacity
CongenitalNystagmus:RelatedDisorders
Congenital
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Congenital Cataracts
CongenitalNystagmus:RelatedDisorders
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Latent / Manifest LatentLatent / Manifest Latent
Nystagmus:Nystagmus:Related DisordersRelated Disorders
Any eye condition that affects normalAny eye condition that affects normal
development of fusion, usually bydevelopment of fusion, usually by
affecting vision in at least one eyeaffecting vision in at least one eyeAmblyopiaAmblyopia: poor vision caused by: poor vision caused by
abnormal visual development, due toabnormal visual development, due toabnormal visual stimulationabnormal visual stimulation
Susceptible ages: birth to 7 or 8 yearsSusceptible ages: birth to 7 or 8 years
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Latent / Manifest LatentLatent / Manifest Latent
Nystagmus:Nystagmus:RelatedRelated Disorders
Strabismus
Latent/Manifest Latent Nystagmus:
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Congenital Cataracts
Latent/Manifest Latent Nystagmus:Related Disorders
Dj vu? Yes, there is
considerable overlap!
Peters AnomalyLatent/Manifest Latent
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Peter s AnomalyCongenital Corneal Opacity
Nystagmus:RelatedDisorders
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SpasmusSpasmus NutansNutans::
Related DisordersRelated Disorders
StrabismusStrabismus
AmblyopiaAmblyopia InIn spasmusspasmus nutansnutans--like disease:like disease:
brain abnormalitiesbrain abnormalities
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DiagnosisDiagnosis
HistoryHistory OnsetOnset
SymptomsSymptomsLightLight--sensitivitysensitivity
Difficulty in darknessDifficulty in darkness
OscillopsiaOscillopsia (sensation of the world(sensation of the worldshaking or moving)shaking or moving)
Dizziness, etc.Dizziness, etc.
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Diagnosis (cont.)Diagnosis (cont.)
Eye examEye exam
Eye movement recordingsEye movement recordings
To verify type of nystagmusTo verify type of nystagmus
To characterize details, such asTo characterize details, such as
convergenceconvergence--damping, null position,damping, null position,etc.etc.
To determine best treatment optionsTo determine best treatment options
Eye Movement Recording
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Eye Movement Recording
Infrared Oculography
Magnetic Search Coil
Congenital Nystagmus:Congenital Nystagmus:
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Congenital Nystagmus:Congenital Nystagmus:
WaveformsWaveforms
Latent / Manifest Latent
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Latent / Manifest Latent
Nystagmus:Waveforms
Spasmus Nutans:
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Spasmus Nutans:
Waveform
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Diagnosis (cont.)Diagnosis (cont.) ElectoretinographyElectoretinography (ERG):(ERG): for diagnosisfor diagnosis
of retinal dystrophies in particular (coneof retinal dystrophies in particular (coneand/or rod dystrophies)and/or rod dystrophies)
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Diagnosis (cont.)Diagnosis (cont.)
NeuroimagingNeuroimaging: MRI or CT scan: MRI or CT scan
including:including:
For acquired nystagmusFor acquired nystagmus For any nystagmus with otherFor any nystagmus with other
associatedassociated neurologicneurologic abnomalitiesabnomalities Other testsOther tests
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Treatment:Treatment:Optical Correction/AidsOptical Correction/Aids
Glasses, including with tints, prismsGlasses, including with tints, prisms
Contact lensesContact lenses
Low vision aidsLow vision aids
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Effect of Prisms on CN
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File: / ejf/dlr/ejf/recordings/mitra/11_27_02/BR/BR23.d_OShor
Time
Position
Red: without prismsGreen: with prisms
Effect of Prisms on CN
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Treatment:Treatment:SomatosensorySomatosensory StimuliStimuli
Contact lenses, soft or rigid gas permeableContact lenses, soft or rigid gas permeable
Neck / face electrical stimulation orNeck / face electrical stimulation or
vibration*vibration*
Acupuncture*Acupuncture*
*Problem: practicality*Problem: practicality
(*DISCLAIMER: The presenter does not necessarily promote(*DISCLAIMER: The presenter does not necessarily promote
these treatments.)these treatments.)
T t tTreatment:
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Treatment:Treatment:
MedicationsMedications
Congenital periodic alternatingCongenital periodic alternating
nystagmus:nystagmus:
BaclofenBaclofen (not as useful as for(not as useful as for acquiredacquired
periodic alternating nystagmus)periodic alternating nystagmus)
PendularPendular nystagmus, in multiplenystagmus, in multiple
sclerosis:sclerosis: GabapentinGabapentin
MemantineMemantine
Botox InjectionTreatment:Medications
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Retrobulbar Space
Botox InjectionMedications(cont.)
Treatment:Treatment:
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Treatment:Treatment:
Medications (cont.)Medications (cont.)
BotoxBotox injection into orbitinjection into orbit
Disadvantages:Disadvantages:
PossiblePossible droopy eyeliddroopy eyelid ((ptosisptosis))
PossiblePossible double visiondouble vision
Wears off in about 8 weeks,Wears off in about 8 weeks,requiring repeated injectionsrequiring repeated injections
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Treatment:Treatment:SurgerySurgery
StrabismusStrabismus correctioncorrection
Treatment:Treatment:
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Treatment:Treatment:
SurgerySurgery
Head postureHead posture
correction (e.g.correction (e.g.
AndersonAnderson--KestenbaumKestenbaum procedure)procedure)
Treatment:Treatment:
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Treatment:Treatment:
SurgerySurgery
Improvement ofImprovement of visionvision
Artificial divergence surgeryArtificial divergence surgery
AndersonAnderson--KestenbaumKestenbaum
Combined artificial divergence andCombined artificial divergence and
AndersonAnderson--KestenbaumKestenbaum
Eye Muscle Surgery
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Eye Muscle Surgery
Site of disinsertionduring surgery
Eye Muscle Surgery
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Eye Muscle(hooked and sutured)
Suture
Suture
Nose
Forehead
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New Research:New Research:
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New Research:New Research:
Congenital NystagmusCongenital Nystagmus
Underlying causeUnderlying causeproposed:proposed:
Lack of normal visual motion during aLack of normal visual motion during a
critical period of development incritical period of development ininfancyinfancy
Possible abnormalPossible abnormal proprioceptionproprioception(sensation of position)(sensation of position)
New Research:New Research:
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New Research:New Research:
Congenital NystagmusCongenital Nystagmus
Diagnosis of waveformsDiagnosis of waveforms is possible inis possible in
infancy: 6 months of age or lessinfancy: 6 months of age or less
Correlation with visionCorrelation with vision
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New Research:New Research:
Congenital NystagmusCongenital Nystagmus
OscillopsiaOscillopsia (=sensation / perception of(=sensation / perception ofworld moving / shaking)world moving / shaking)
A debilitating problem in very fewA debilitating problem in very fewcongenital nystagmus patientscongenital nystagmus patients
Associated withAssociated with decompensateddecompensated motor ormotor or
sensory status (e.g. strabismus, retinalsensory status (e.g. strabismus, retinaldystrophy)dystrophy)
May be helped with treatment for theMay be helped with treatment for theunderlying causeunderlying cause
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New Research:New Research:
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New Research:New Research:
Congenital NystagmusCongenital Nystagmus
TorsionalTorsional componentcomponent of CNof CN
Does not significantly affect vision inDoes not significantly affect vision inthe null positionthe null position
Generated centrally (in brain), asGenerated centrally (in brain), as
opposed to peripherally (in eyeopposed to peripherally (in eye
muscles)muscles)
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New Research:New Research:
CongenitalCongenital NystagmusNystagmus
Psychophysical testsPsychophysical tests Orientation thresholds:Orientation thresholds:
Lines of different orientations andLines of different orientations anddiffering lengths presented for differingdiffering lengths presented for differingperiods of timeperiods of time
CN patients require more time toCN patients require more time torecognize the orientationsrecognize the orientations
CN patients have a harder time withCN patients have a harder time with
vertical lines than horizontal linesvertical lines than horizontal lines
Control PatientNewNewResearch:Research:
i lC i l
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PlasmaScreen
CongenitalCongenital
NystagmusNystagmus
PsychoPsycho--
physicalphysicalteststests
Latency ofLatency ofoptotypeoptotyperecognitionrecognition
Static Task:
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500 msec
500 msec
2000 msec
Gaze angles:
5-22o in R or L gaze
At or above visualacuity, CN patientsrequired more time to
recognize the E thancontrols
Dynamic Task:
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500 msec
2000 msec
Stimulus velocities:
10-30o/sec to R or L
At or above visualacuity, CN patientsrequired more time
to recognize the Ethan controls
New Research:New Research:
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New Research:e esea c
CongenitalCongenital NystagmusNystagmus
NeuroanatomicNeuroanatomic studystudy of theof the
muscle/eye junction (muscle/eye junction (enthesisenthesis)) Differences compared to patients withoutDifferences compared to patients without
nystagmusnystagmus
Enthesial Area
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CONTROL HUMAN ENTHESISMyelin
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Axon
2u
2u
500u
Nerve Ending
Capillary
INS IDIOPATHIC 18 Mos M
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Unmylinated Nerve Ending
500u
100u
500u
500uNerve Endings c Dilated RER
Nerve Endings c Dilated RER
Fragmented Neurolemma
New Research:New Research:
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CongenitalCongenital NystagmusNystagmus
NeuroanatomicNeuroanatomic studystudy of theof the
muscle/eye junction (muscle/eye junction (enthesisenthesis))
Suggests a possible role for abnormalSuggests a possible role for abnormal
proprioceptionproprioception (sensation of position) as(sensation of position) as
cause of diseasecause of disease
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CongenitalCongenital NystagmusNystagmus MedicationMedication effect:effect:
One adult CN patient improved with diet pill*One adult CN patient improved with diet pill*
One child with CN improved with ADHD pill*One child with CN improved with ADHD pill*
Medications improved vision, strabismus, andMedications improved vision, strabismus, anddepth perception, despitedepth perception, despite increasedincreased nystagmusnystagmusintensityintensity
Likely reason:Likely reason: moremore foveationsfoveationsper secondper second
*These drugs may carry serious side effects and*These drugs may carry serious side effects and have NOThave NOTundergone clinical trial for treatment ofundergone clinical trial for treatment of nystagmusnystagmus..
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CongenitalCongenital NystagmusNystagmus
Surgical treatmentsSurgical treatments1.1. HorizontalHorizontal rectusrectus tenotomytenotomy study instudy in
humanshumans (NIH study)(NIH study)
Improved visual acuity in the childrenImproved visual acuity in the children
Improved vision subjectively in adultsImproved vision subjectively in adults
(To be published soon(To be published soonstay tuned)stay tuned)
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CongenitalCongenital NystagmusNystagmus Surgical treatmentsSurgical treatments
2.2. LASIKLASIK(laser(laser--assisted in situassisted in situ keratomileusiskeratomileusis,,refractive surgery)refractive surgery)
In 47In 47 y.oy.o. woman with CN. woman with CN Moderate amplitude and frequencyModerate amplitude and frequency
ConvergenceConvergence--dampingdamping
No eccentricNo eccentric--gaze nullgaze null After 2 treatments with pupilAfter 2 treatments with pupil--tracking lasertracking lasersystem:system:
20/40 each eye pre20/40 each eye pre--op with glassesop with glasses 20/40 each eye post20/40 each eye post--op without glassesop without glasses
New Research:New Research:CongenitalCongenital
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Cornea
Anteriorchamber
Pupil
Iris
Cornea
NystagmusNystagmusSurgical Treatment:Surgical Treatment:
LASIKLASIK
CorneaCornea
NewNewResearch:Research:
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CongenitalCongenitalNystagmusNystagmus
SurgicalSurgicalTreatment:Treatment:LASIKLASIK
Corneal Flap
Laser appliedto the stroma
Corneal Flap
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CongenitalCongenital NystagmusNystagmus LASIK for CN (INS) patient??? Only if:LASIK for CN (INS) patient??? Only if:
ConvergenceConvergence--dampingdamping nystagmusnystagmus
No eccentric nullNo eccentric null--pointpoint
SmallerSmaller nystagmusnystagmus frequencies andfrequencies andamplitudesamplitudes
Experienced surgeonExperienced surgeon
Advanced pupilAdvanced pupil--tracking laser systemstracking laser systems With full knowledge of the patient aboutWith full knowledge of the patient aboutproblemsproblems with eccentric ablation zones,with eccentric ablation zones,including monocularincluding monocular diplopiadiplopia, glare, halos,, glare, halos,and other debilitating symptomsand other debilitating symptoms
New Research:New Research:
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AcquiredAcquired NystagmusNystagmus
Localizing defects in the brainLocalizing defects in the brain
Optical treatmentOptical treatment: an electro: an electro--opticoptic
device, fordevice, for pendularpendular nystagmusnystagmus, e.g., e.g.in multiple sclerosisin multiple sclerosis
MedicationsMedications, e.g. in multiple sclerosis,, e.g. in multiple sclerosis,periodic alternatingperiodic alternating nystagmusnystagmus
Thank you for your attention
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Thank you for your attention