Congenital Nystagmus (Infantile Nystagmus Syndrome)

1) Congenital motor nystagmus

Congenital motor nystagmus is a binocular conjugate nystagmus that is usually

horizontal and commonly remains so on upgaze and downgaze (uniplanar).
Congenital motor nystagmus can be pendular, jerk. circular, or elliptical. and
more than I type may exist in the same individual. The characteristic waveform
of congenital motor jerk nystagmus is a slow phase with an exponential increase
in velocity. A null point. or neutral zone, may be present; this is a gaze position in
which the intensity of oscillations is diminished and the visual acuity improves. If
the null point is not in primary position, anomalous head postures may be
adopted to damp the nystagmus and provide the best visual acuity. Head
bobbing or movement may also be present at first, although this usually
decreases with age. Oscillopsia is rare. See Table 25-4. Congenital motor
nystagmus is damped by convergence and therefore is often as sociated with
esotropia. This combination of nystagmus and esotropia has been termed
nystagmus blockage syndrome. a distinction from those cases in which esotropia
and nystagmus happen to coexist. Patients with nystagmus blockage syndrome
characteristically present with an esotropia that "eats up prism" on attempted
measurement and exhibit an increased jerk nystagmus on attempted lateral
gaze. Purely congenital motor nystagmus is not associated \vith other central
nervous system abnormalities. Visual function can be near normal. Patients
develop a preferred gaze position to utilize a null location, thereby increasing
foveation time, during which their acquisition of visual information occurs. This
head position becomes more obvious as the child reaches school age.
Approximately two-thirds of these patients exhibit a paradoxical inversion of the
OKN response. Normally, if a patient with right jerk nystagmus views an OKN
drum rotating to the patient's left (eliciting a pursuit left, jerk right response), the
right jerk nystagmus will increase. However, patients with congenital motor
nystagmus exhibit either a damped right jerk nystagmus or possibly even a left
jerk nystagmus. This paradoxical response occurs only in congenital nystagmus.
Table 25-4 Characteristics of Congenital Nystagmus
Bilateral
Conjugate
Horizontal
Uniplanar
Worsens with attempted fixation
Improves with convergence
Null point often present with head position
Two-thirds of patients have "inverted" OKN response
Oscillopsia usually not present

2) Congenital sensory nystagmus

Congenital sensory nystagmus, another form of congenital nystagmus, is
secondary to a bilateral, pregeniculate, afferent visual pathway abnormality.
Inadequate image formation results in fa ilure of development of the normal
fixation reflex. If this is present at birth, the resulting nystagmus begins in the
first 3 months of life. Its severity depends on that of the vision loss. The
nystagmus is typically horizontal and uniplanar and has a waveform identical to
that of congenital motor nystagmus. Pendular nystagmus is most common and
on lateral gaze, the nystagmus rnay become jerk. Searching, slow, wandering
conjugate eye movements may also be observed. Searching nystagmus, defined
as a roving or drifting, typically horizontal, movement of the eyes without
fixation, is usually observed in children whose vision is worse than 20/200.
Pendular nystagmus occurs when the visual acuity is better than 20/200 in
alleast [ eye. Jerk nystagmus is often associated with visual acuity between
20/60 and 201 [00. The associated bilateral, pregeniculate afferent abnormality
may be obvious, slich as in children with bilateral cataracts or corneal opacities.
The ocular abnormality may be more subtle, such as in children with optic nerve
hypoplasia or foveal hypoplasia. A child with congenital sensory nystagmus from
a retinal dystrophy may have mild vascular attenuation, optic disc pallor, or a
completely normal retinal appearance. An electroretinogram may be required for
diagnosis. See Table 25- [ for the ocular conditions that can give rise to sensory
nystagmus.
3) Periodic alternating nystagmus.
Periodic alternating nyslagmus (PAN; centml vestibular instability nystagll1us) is
an unusual form of congenital motor jerk nystagmus that periodically changes
direction. The motion typically starts with a jerk nystagmus in [ direction that
lasts for 60-90 seconds and then slowly begins to damp, until it reaches a period
of no nystagmus that lasts from 10 to 20 seconds, followed by nystagmus that
jerks in the opposite direction in a repeating process. Some children adopt an
alternating head position to take advantage of the changing null position~ The
cause of congenital PAN is unknown, but this condition has been associated with
oculoclltaneolls albinism.
4) Latent nystagmus.
Latent nystagmus (fusion maldeve!opmenl nystagmus syndrolne) is a congenital
conjugate horizontal jerk nystagmus that is a marker of fusion maldevelopmen!.
Latent nystagmus occurs in children with decreased fusion, which results from
either early onset strabismus or decreased vision in [ or both eyes. When [ eye is
occluded, a jerk nystagmus develops in both eyes, with the fast phase directed
toward the uncovered eye. ThLlS, a left jerk nystagmus of both eyes occurs when
the right eye is covered, and a right jerk nystagmus of both eyes occurs when

the left eye is covered. This nystagmus is the only form that reverses direction as
driven by a change in fixation. Similarly, the null point and corresponding head
position reverse with a change in fixation (Fig 25-2). The null point is with the
fLxating eye in adduction. Therefore, occlusion of the right eye induces a left jerk
nystagmus with a null point in right gaze (left head turn). Occlusion of the left
eye induces a right jerk nystagmus with a null poiJlt in left gaze (right head turn).
Asymmetries in amplitude, frequency, and velocity of the nystagmus also can be
present, depending on which eye is covered. Latent nystagmus usually is noted
in early childhood, particularly in patients with congenital esotropia and
dissociated vertical deviation. The cause is unknown but may be related to the
mechanism of vestibular nystagmus, as well as fusion maldevelopment. Because
latent nystagmus is induced when an eye is covered. binocular visual acuity is
better than monocular, and occlusion must be avoided during monocular tests of
vision. Use of polari Zing lenses and a polarized chart, blurring of the non tested
eye with a +5.00 D sphere, or repositioning of the occluder several inches in
front of the eye not being tested can be effective. Latent nystagmus is damped
by fusion and increased with disruption of fusion (such as ocular occlusion).
Latent nystagmus may become manifest (manifest latent nystagmus) when both
eyes are open but only 1 eye is being used for vision (ie, the other eye is
suppressed or amblyopic). Occlusion of the preferred eye results in a change in
the direction of the jerk nystagmus. Electronystagmographic evaluation of latent
and manifest latent nystagmus reveals a similar waveform with an exponential
decrease in velOCity of the slow phase-a pattern opposite that of congenital
motor nystagmus, which shows an exponential increase in slow-phase velOCity
(Fig 25-3).

Acquired Nystagmus
1) Spasmus nutans

Spasmus nutans (spasmus nutans syndrome) is an acquired nystagmus that

occurs in children during the first 2 years of life, presenting as a triad of
nystagmus, head nodding, and torticollis. The nystagmus generally is bilateral
and of small amplitude and high frequency (shimmering); however, it can be
monocular, asymmetric, and variable in different gaze positions. It can be
horizontal, vertical, or rotary and is occasionally intermittent. The head nodding
and torticollis appear to be compensatory movements that reduce the frequency
and asymmetry of the nystagmus and therefore maximize vision. Spasmus
nutans occasionally can be familial and has been present in monozygotic twins. It
usuaLly disappears by age 3- 4 years. It is a benign idiopathic disorder in most
cases, but nystagmus characteristic of spasmus nutans has been associated with
chiasmal or suprachiasmal tumors and retinal dystrophies sllch as congenital
stationary night blindness in children. Neuroradiologic investigation is warranted
if spasmus nutans occurs with evidenc~ of optic nerve dysfunction (optic disc
pallor, relative afferent pupillary defect). As subtle optic disc paLlor and relative
afferent pupillary defects are difficult to detect in children, some investigators
believe that neuroimaging is indicated for all children with spasmus nutans,
although this view is controversial. Electroretinography should be considered in

children with spasmus nutans and clinical signs of a retinal dystrophy such as
myopia or paradoxical pupils.
2) See-saw nystagmus
See-saw nystagmus (vision loss nystagmus), an unusual but dramatic type of
nystagmus. has both vertical and torsional components. The name derives from
the action of the familiar playground device. If2 eyes were placed on a see-saw,
one at either end, they would "roll down the plank" as the see-saw rose, with the
high eye intorting and the low eye extorting. As the direction of the see-saw
changed, so would that of the eye movement. Thus, the eyes make alternating
movements of elevation and in torsion followed by depreSSion and extorsion.
This type of nystagmus is often associated with a lesion in the r0stral midbrain or
the suprasellar area. In children, the most likely associated intracranial tumor is a
craniopharyngioma. Confrontation visual fields may elicit a bitemporal defect.
Neuroradiologic evaluation is necessary. The treatment for see-saw nystagmus is
removal of the inciting calise.

3) Convergence-retraction nystagmus
Convergence-retraction nystagmus (induced convergence-retraction) is part of
the dorsal midbrain syndrome associated with paralysis of upward gaze,
defective convergence, eyelid retraction, and pupillary light-near dissociation. In
the pediatric age group, convergenceretraction nystagmus is commonly
secondary to congenital aqueductal stenosis or a pinealoma. It is best elicited on
attempted upgaze saccades Ceg, by asking the patient to track a downwardly
rotating OKN drum). Co-contraction of all the horizontal extraocular muscles
occurs, and the eyes are pulled into the orbit. In addition, the medial rectus
muscles overpower the lateral rectus muscles, causing the eyes to converge on
attempted upgaze (hence the term convergence-retraction). However, voluntary
convergence is minimal. The abnormal eye movements in convergenceretraction nystagmus are actually sacca des. Therefore, convergence-retraction
nystagmus is not a true nystagmus and is considered a disjunctive saccadic
oscillation.
4) Opsoclonus.
Opsoclonus is an extremely rare eye movement disorder that, like convergenceretraction nystagmus, is not a true nystagmus. Rather, it is a bizarre, rapid. and
involuntary ocular oscillation. Opsoclonus can be present intermittently and often
has a very-high-frequency, low-amplitude movement. The movements are so fast
and chaotic that they are not easily confused \vith other forms of infantile
nystagmus. Common causes of opsoclonus in children are acute postinfectious
cerebellar ataxia and epidemic viral encephalitis. OpSOciOIlUS can also be a
paraneopiastic manifestation of occult neuroblastoma.
5) Downbeat nystagmus

Downbeat nystagmus is a jerk nystagmus with the fast component downward. It

obeys Alexander's law (see the section Nomenclature, earlier in this chapter) and
is maximum in downgaze and down to the left and right. Downbeat nystagmus
often has a null position in upgaze. When congenital, this condition is associated
with good vision and normal neurologic findings, although a hereditary form of
downbeat nystagmus may precede spinocerebellar degeneration. More
commonly, downbeat nystagmus is acquired, secondary to structural
abnornlalities such as the Arnold-Chiari malformation. In this condition, the
cerebellar tonsils herniate through the foramen magnum, compressing the brain
stem and resulting in downbeat nystagmus, Decompression of this area often
results in complete resolution. Pharmacologic agents such as codeine, lithium,
tranquilizers. and anticonvulsants may also cause this condition.
6) Monocular nystagmus
Monocular nystagmus has been reported to occur in severely amblyopic and
blind eyes. The oscillations are pendular, chiefly vertical, slow, small in
amplitude, and irregular in frequency.
7) Dissociated nystagmus.
Nystagmus only in the abducting eye (dissociated nystagmus) occurs in several
conditions, the most familiar being internuclear ophthalmoplegia. Myasthenia
gravis may simulate an internuclear ophthalmoplegia. Surgical weakening of the
medial rectus muscle has been reported to cause a nystagmus of the
contralateral abducting eye similar to that seen with internuclear
ophthalmoplegia but without the slowing of saccades in the adducting eye that
occurs in the latter condition.