Ординатура / Офтальмология / Английские материалы / Handbook of Pediatric Neuro-Ophthalmology_Wright, Spiegel, Thompson_2006

FIGURE 9-1. Diagram of nystagmus in nine positions of gaze. Arrowheads indicate direction of jerk: fast phase if on one end, pendular nystagmus if on both ends, and increasing frequency with more arrowheads. Additional lines indicate increased nystagmus amplitude. The curved lines indicate torsional nystagmus.

in synchrony. The nystagmus may be predominantly pendular or jerky, the former referring to equal velocity of the to-and-fro movement of the eyes, and the latter referring to the eyes moving faster in one direction and slower in the other. Involuntary ocular oscillations containing only fast phases are referred to as “saccadic oscillations and intrusions” and not nystagmus (Table 9- 2). It is well documented that differentiating true nystagmus from saccadic oscillations and intrusions is sometimes

TABLE 9-2. Saccadic Intrusions and Oscillations Identified by History, Physical Examination, and Ocular Motility Recordings.

1.Bobbing/dipping

2.Double saccadic pulses

3.Dynamic overshoot

4.Dysmetria

5.Flutter

6.Flutter dysmetria

7.Macrosaccadic oscillations

8.Myoclonus

9.Opsoclonus

10.Psychogenic flutter (voluntary nystagmus)

11.Saccadic lateropulsion

12.Saccadic pulses/pulse trains (“abduction,” ataxic, intrusions)

13.Square wave jerks/oscillations

14.Superior oblique myokymia

impossible clinically. Recent advances in eye movement recording technology have increased its application in infants and children who have disturbances of the ocular motor system.1,4

INCIDENCE

In 1991, Stang retrospectively reviewed the records of Group Health Inc. (White Bear Lake, Minnesota, U.S.A.) and in their pediatric population of 70,000 found a prevalence of clinical “nystagmus” of 1 in 2850.66 Other estimates of its incidence range from 1 in 350 to 1 in 6550.11,28,38,41,55 Up to 50% of the infantile strabismic population have some associated nystagmus.9,20,39,42,44,45,54,60 If these cases are included in the prevalence estimates, then up to 0.5% of the population would be considered to have some form of nystagmus.

ETIOLOGY

The theoretical neuronal mechanisms of nystagmus continue to evolve and a single unifying explanation is still lacking. However, three major supranuclear inputs to the oculomotor system are clearly important in stabilizing eye movements; their dysfunction may lead to nystagmus. These inputs are the pursuit system, the vestibular system, and the neural integrator.

The pursuit system, previously thought to have only a dynamic function, provides a major input for fixation stability (e.g., pursuit at “0 velocity” is stable fixation).37,57 The outputs of the right and left vestibular apparati are neural discharges, each of which tends to drive the eyes contralaterally. Normally the right and the left outputs are equal and cancel each other. Head rotation and unilateral vestibular damage alter this balance. For example, right vestibular damage causes the eyes to drift to the right side. A corrective saccade is then made toward the left. A distinguishing feature of vestibular nystagmus is that the slow phase of the nystagmus toward the affected side is of constant velocity as recorded by electronystagmography. It is important to realize that most forms of acquired nystagmus are caused by disease of the vestibular system (centrally or peripherally). Eye movement recordings show various combinations of slow phases including uniplanar or multiplanar, simple pendular, linear, and decelerating.52

solid history of the onset of nystagmus in the first month of life is reassuring because such cases are usually neurologically benign. Efforts are being made to add precision and uniformity to nystagmus terminology. The terms congenital nystagmus (CN) infantile nystagmus, and idiopathic motor nystagmus have become synonymous with the most common form of neonatal nystagmus.4,20,44,45,61 The term infantile nystagmus syndrome (INS) is a broader and more inclusive term that we prefer when referring to the broad range of neonatal nystagmus types, including those with identifiable causes. The distinguishing characteristic of INS is the presence of an accelerating slow phase. The major types of nystagmus waveforms are shown in Figure 9-2.

In general, a clearly documented history of onset of any form of nystagmus in the first months of life should put the exam-

A

B

C

D

FIGURE 9-2A–D. Representation of major types of nystagmus waveforms. Continuous periods of time are depicted in each tracing. Rightward eye movements are up, and leftward eye movements are down. (A) Pure jerk left nystagmus. (B) Pendular nystagmus. (C) Jerk left with increasing velocity slow phases. (D) Jerk left with decreasing velocity slow phases.

iner at ease. Unfortunately, such history is not usually available because neonatal-onset nystagmus is frequently not noticed until later in life. However, the characteristics of INS and LN/MLN are so typical that when encountered in older patients the nystagmus can be assumed to have begun in the neonatal period. All other forms of nystagmus should be assumed to have been acquired, unless there is clear documentation of their neonatal onset.

Infantile Nystagmus Syndrome (Previously

Congenital Motor Nystagmus, CN)

Familiarity with the clinical features of infantile nystagmus syndrome (INS) permits the examiner to avoid unnecessary testing. INS is an ocular motor disorder that presents at birth or early infancy and is clinically characterized by involuntary oscillations of the eyes. Estimations of the incidence of INS vary enormously, from 1 in 350 to 1 in 20,000, although the generally quoted estimated incidence is 1 in 6550 or 0.015%.44,45 These movements most commonly have a slow and fast phase, although they may be purely pendular; they are usually horizontal with a small torsional component and may (rarely) have a vertical component. Other clinical characteristics, not always present, include increased intensity with fixation and decreased intensity with sleep or inattention; variable intensity in different positions of gaze (usually about a null position); changing direction in different positions of gaze (about a neutral position); decreased intensity (damping) with convergence; anomalous head posturing; strabismus; and an increased incidence of significant refractive errors. INS can occur in association with congenital or acquired defects in the visual sensory system (e.g., albinism, achromatopsia, and congenital cataracts). The cause or causes and pathophysiological mechanisms of INS have not been elucidated. Children with this condition frequently present with a head turn, which is used to maintain the eyes in the position of gaze of the null point (point of minimum nystagmus). This maneuver is particularly prominent when the child is concentrating on a distant object, as this form of nystagmus tends to worsen with attempted fixation. The head turn is an attempt to stabilize the image under these conditions. Head oscillations are common in INS and probably reflect underlying instability of cervical motor control. Hence, the head movements are pathological and not adaptive.

Oscillopsia, an illusory movement of the stationary world, is almost never present in INS. The reason for this is unclear, but may be explained by efference copy mechanisms, in which a copy of the motor output signal to the extraocular muscles (EOMs) is also sent to other sensory and motor areas in the brain.2,8 Presumably this corollary discharge then permits suppression of oscillopsia. In those rare patients with intermittent oscillopsia, it tends to occur at gaze angles in which the nystagmus is maximal or if a new sensory system defect develops (e.g., retinal disease). Absence of oscillopsia is usually not helpful in distinguishing congenital from acquired nystagmus in children because, even with acquired nystagmus, small children rarely have this complaint.

Numerous studies of INS in infants and children confirm an age-dependent evolution of waveforms during infancy from pendular to jerk.4,20,44,61 This concept is consistent with the theory that jerk waveforms reflect modification of the nystagmus by growth and development of the visual sensory system. Many forms of visual sensory system abnormalities are associated with the motor defects present in INS. Therefore, classification of INS as either “sensory” or “motor” is confusing and often inaccurate. Nevertheless, the practical task for the physician is to determine if an identifiable etiology or cause of the nystagmus is present. Accurate, uniform, and repeatable classification and diagnosis of nystagmus in infancy as INS is best accomplished by a combination of clinical and motility findings; in some cases, motility findings are indispensable for diagnosis (Fig. 9-3).

If an infant is diagnosed with INS, ocular motility analysis can also be helpful in determining visual status. Analysis of binocular or monocular differences in waveforms and foveation periods reflect development of the afferent visual system. Pure pendular or jerk waveforms without foveation periods are associated with poorer vision whereas waveforms of either type with extended periods of foveation are indicators of good vision. Significant interocular differences in a patient reflect similar differences in vision between the two eyes. Ocular motility analysis in infants also accurately determines nystagmus changes with gaze (null and neutral zones).

Although numerous studies have described INS pathophysiology and its effect on the visual system, its etiology remains elusive. Defects have been proposed involving the saccadic, optokinetic, smooth pursuit, and fixation systems as well as the

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B

C

FIGURE 9-3A–C. (A) OU open-OD recording, jerk left INS. (B) OD viewing (OS cover), OD recording, jerk right LN/FDN. (C) OS viewing (OD cover), OS recording, jerk left LN/FDN. INS, infantile nystagmus syndrome; FDN, fusion maldevelopment nystagmus syndrome.

neural integrator for conjugate horizontal gaze. As mentioned previously, biomedical control system models have reproduced this oscillation, and it has been attributed to a “high-gain instability” in the ocular motor system. This term loosely translates as an error in “calibration” of the eye movement system during attempted fixation. Including genetic predisposition, many clinical conditions are associated with the INS oscillation. The immature ocular motor system is a required condition for the development of this ocular oscillation. The etiology may be

occur from conception due to a primary defect (e.g., retinal dystrophy), during embryogenesis due to a developmental abnormality (e.g., optic nerve hypoplasia), or after birth during infancy (e.g., congenital cataracts). This theory of the genesis of INS incorporates a pathophysiological role for the sensory system in its genesis and modification. Although the set of physiological circumstances may differ, the final common pathway is abnormal calibration of the ocular motor system during its sensitive period. The primary ocular motor instability underlying INS is the same, but its clinical and oculographic expression is modified by both initial and final developmental integrity of all parallel afferent visual system processes. As the bidirectional arrows suggest (see Fig. 9-4), abnormal motor development would be expected to affect sensory development. As mentioned previously, this new knowledge forces us to abandon the classic “motor” and “sensory” classification introduced by Cogan more than 30 years ago.

Latent Nystagmus/Manifest Latent Nystagmus

Latent nystagmus/manifest latent nystagmus (LN/MLN) is a benign, jerk nystagmus that begins in early infancy and is easily observed under monocular viewing conditions. If the nystagmus is present under binocular viewing, then manifest latent nystagmus is said to be present. If monocular occlusion is needed to bring out the nystagmus, then latent nystagmus is present. LN/MLN is bilateral and conjugate with the slow phase toward the covered eye and the fast phase toward the viewing or suppressed eye. Strabismus, usually in the form of esotropia, is almost always present. It may be difficult to distinguish LN/MLN from INS with associated estropia without the aid of eye movement recordings. Latent nystagmus and manifest latent nystagmus have slow phases that are predominantly decreasing in velocity and linear (see Fig. 9-3).20,22,35,75

The term fusion maldevelopment nystagmus syndrome is preferred by some because all patients with this form of nystagmus have poor or absent fusion. Furthermore LN/MLN is an awkward and cumbersome term. However, it remains the most widely used term, and we continue to employ it in this text.

Patients with frank esotropia may demonstrate LN/MLN. Because these patients usually suppress one eye at a time, the nystagmus is often present even without covering an eye. The direction of the nystagmus depends on which eye is fixating.