diagnosa nistagmus

8/10/2019 diagnosa nistagmus

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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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Vestibular NystagmusVestibular Nystagmus


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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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RelatedRelated DisordersOptic Nerve Hypoplasia

i lC i l N


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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



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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.)



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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



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SurgerySurgery

Head postureHead posture

correction (e.g.correction (e.g.

AndersonAnderson--KestenbaumKestenbaum procedure)procedure)



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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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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)



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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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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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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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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



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New Research:e esea c


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



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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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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



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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

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