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Biomedical subjects

L Averbuch-Heller

Publications and source records attributed to L Averbuch-Heller.

At least 19 recordsLinked to original sources

Ptosis in patients with hemispheric strokes.

BACKGROUND: Cerebral ptosis is considered rare; it has been reported with unilateral, usually right hemispheric lesions. However, the frequency of cerebral ptosis in patients with strokes has not received systematic study. OBJECTIVE: To determine the frequency of ptosis in patients with acute hemispheric stroke and to identify stroke features associated with ptosis. METHODS: Eyelid function was studied in 64 consecutive patients with acute hemispheric stroke and 40 age-matched subjects with no known neurologic disease. All underwent comprehensive neuro-ophthalmologic and general neurologic examination within 48 hours of admission, including measurement of palpebral fissures, marginal reflex distance, and range of upper lid movement. Only patients who could cooperate with eyelid testing were included. Brain CT scans were obtained for all patients who had had strokes. RESULTS: Twenty-four (37.5%) of the patients with strokes had neurogenic ptosis, which was bilateral in 10 and unilateral in 14. None of the control subjects had neurogenic ptosis. All patients with strokes with ptosis had a hemiparesis. Rightward gaze deviation and upgaze paresis were more common (p < 0.05) in the patients with ptosis compared with others who had had strokes. CT evidence of right-sided hemispheric cortical infarction was more common in patients with strokes with ptosis (p < 0.05). In five patients with large hemispheric infarction, complete bilateral or asymmetric ptosis was the first sign of imminent herniation, preceding pupillary dilation and ocular motor deficits. CONCLUSIONS: Ptosis occurs frequently in patients with hemispheric strokes, especially in association with right hemispheric lesions. Complete bilateral ptosis is usually caused by large infarctions and may be a premonitory sign of an impending herniation.

Aged↗

The torsional component of "horizontal" congenital nystagmus.

OBJECTIVES: To study the relationship between the major horizontal and minor torsional components of congenital nystagmus to elucidate the diagnostic importance, effects on vision, and pathogenetic implications of the torsional components. METHODS: We recorded the eye movements of 13 subjects with congenital nystagmus using a three-dimensional magnetic search coil technique over a 15-year period. The subjects fixated on stationary targets straight ahead and along the horizontal and vertical meridians. Six of the 10 subjects with horizontal congenital nystagmus were asymptomatic; the remaining 4 (plus two with a vertical component to their congenital nystagmus) had adult-onset symptoms. An additional subject without symptoms had a vertical congenital nystagmus component plus seesaw nystagmus; one of the symptomatic subjects also had seesaw nystagmus. RESULTS: In all 13 subjects, the horizontal and torsional cycles were phase-locked, and positive horizontal (rightward), vertical (upward, if any), and torsional (clockwise) motion coincided in 10 subjects. That is, rightward horizontal eye rotation coincided with clockwise curvilinear motion (rightward and downward) of the upper pole of each eye. During the horizontal foveation periods, torsional motion was also of low velocity. In 2 of 13 subjects, the torsional waveforms differed from those in the horizontal plane; in others, the direction or the variation with gaze angle differed from that predicted by Listing. In each of the 13 subjects, the torsional components ranged from 8.16% to 94.42% (median, 32.94%) of the peak-to-peak magnitudes of the congenital nystagmus. In most cases, the measured torsion was far greater than that predicted by Listing's law for a worst-case analysis (range, 0.69-11.83%; median, 4.91%). The torsional components of the two subjects with seesaw nystagmus were 60.48% and 264.02%. CONCLUSIONS: The manner in which the horizontal and torsional components of "horizontal" congenital nystagmus were phase-locked made clinical detection of the torsional component difficult. Most "horizontal" congenital nystagmus is actually horizontal-torsional congenital nystagmus. Visual acuity during horizontal foveation periods is not significantly diminished by torsional motion. In only one subject did the torsional component of the congenital nystagmus have an amplitude equivalent to Listing torsion; in the other 12 subjects, torsion exceeded our estimate of what Listing's law would predict. The torsional components of the seesaw nystagmus in two subjects also greatly exceeded the torsion predicted by Listing torsion. The most parsimonious explanation for our data is that the cyclic torsion in congenital nystagmus was generated centrally and not a result of Listing torsion, mechanical crosstalk, or normal or abnormal extraocular-muscle (plant) dynamics. Further measurements are needed to confirm this hypothesis.

Adult↗

Evaluation of transdermal scopolamine as treatment for acquired nystagmus.

We conducted an unmasked evaluation of transdermal scopolamine in seven patients with acquired nystagmus for whom other treatments had been unsatisfactory. We measured eye speed and visual acuity before and several hours after starting treatment. Median eye speed decreased slightly in three patients but increased in two; no change in visual acuity occurred in any patient. One patient was unable to tolerate the side effects of scopolamine after two hours, but the others continued the scopolamine treatment for 48 hours; only one reported minor improvement. We conclude that transdermal scopolamine is not likely to be an effective treatment of acquired nystagmus. Patients should be monitored during the first few hours of treatment to determine whether vision is improved or made worse and whether side effects occur.

Administration, Cutaneous↗

Supranuclear control of ocular motility.

Ocular motor behavior is dictated by visual demands. The entire brain is involved in programming and executing of eye movements. Gaze shifts performed under natural conditions require an elaborate supranuclear coordination between various motor and sensory mechanisms. Recently, a wealth of novel data emerging from animal studies along with functional imaging in humans expanded and modified traditional schemes of premotor organization of the ocular motor system. In this review, types of eye movements that provide clear and stable vision are delineated, neuroanatomical basis of ocular motor control is considered, and the clinical disorders of supranuclear motility are discussed.

Brain↗

Acquired nystagmus.

Traditionally, acquired forms of nystagmus have been classified in descriptive terms based on their clinical features and recorded waveforms. In the past 20 years, the mechanisms of several major forms of nystagmus have been elucidated; animal and mathematical models for these ocular oscillations have been developed. These advances, which owe much to modern anatomical, physiological, and pharmacological techniques, have enhanced the diagnostic value of nystagmus and provide the basis for developing rational therapy.

Eye Movements↗

Square-wave jerks induced by pallidotomy in parkinsonian patients.

Square-wave jerks (SWJs) are small, inappropriate saccades that intrude on steady fixation by taking the eye away from the target and then returning it after approximately 200 msec. The pathophysiology of SWJs is unknown; they have not been attributed to any specific lesion. We found that unilateral pallidotomy substantially increased the frequency of SWJs in three patients with Parkinson's disease. This effect is likely due to imbalance in the fixation system caused by asymmetric reactivation of prefrontal cortex via ascending thalamocortical projections. Alternatively, disruption of nigral projections to the superior colliculus might be responsible.

Adult↗

Acquired Nystagmus.

Patients with acquired forms of nystagmus may suffer from oscillopsia and blurred vision; abolishing or reducing nystagmus ameliorates these symptoms. Ideally, treatment of nystagmus should be directed against the pathophysiologic mechanism responsible. Identification of nystagmus pattern is important in directing therapy and occasionally requires electronic eye movement recording for precise characterization. Patients with acquired pendular nystagmus, particularly those with multiple sclerosis, often benefit from gabapentin, a drug with few side effects. Scopolamine, clonazepam, and valproate are also useful in some patients. A new drug, memantine, was effective in treating pendular nystagmus in one study, but it has not yet been approved for use in the United States. Periodic alternating nystagmus usually responds to baclofen. Central vestibular nystagmus, including downbeating and upbeating forms, can be treated with baclofen or clonazepam. In some patients, treatment of an underlying condition, such as periodic ataxia, Whipple's disease, and Chiari malformation, abolishes nystagmus and improves vision. If pharmacologic therapy fails, optical devices can be considered in selected patients. Injections of botulinum toxin and surgery to weaken extraocular muscles are prone to induce diplopia and may precipitate plastic-adaptive ocular motor changes that eventually negate the beneficial effect.

Journal Article↗

Disconjugate adaptation of saccades: contribution of binocular and monocular mechanisms.

We studied the effects of prism-induced disparity on static and intrasaccadic alignment in six normal human subjects. A ten diopter base-out prism, calling for convergence, was placed in front of the central field of the right eye, so that at the center the eye viewed through the prism; at left and right, outside the prism. During 15 min of training, subjects made repetitive saccades solely in the right field of vision (C-R-C sequence). This paradigm required relative divergence for centrifugal (C-R) saccades and relative convergence for centripetal (R-C) saccades, as well as increase of the amplitude for all saccades made by the right eye. We found that during training, all subjects incorporated the necessary change in alignment into the saccades. After training the resultant intrasaccadic disconjugacy persisted when tested during monocular viewing, indicating that motor learning had occurred. Subjects demonstrated increased divergence for C-R and increased convergence for R-C saccades, in accordance with the change acquired during adaptation to the prism. In addition, five subjects developed increased divergence for C-L saccades, for which they did not train. Smaller and less consistent divergence was also observed for L-C saccades. Changes in intrasaccadic alignment were accompanied by changes in the relative velocities of the two eyes' saccades and slowing of the peak velocities in both eyes during training. Static alignment showed a general tendency toward convergence that did not parallel the changes in the intrasaccadic alignment, suggesting that saccade adaptation is system-specific. The pattern of transfer of the intrasaccadic disconjugacy to saccades in the untrained field and the changes in the relative speeds of the two eyes cannot be explained by monocular adjustment of the saccades. Our results indicate that both a binocular mechanism--saccade-vergence interaction--and monocular adaptation contribute to disconjugate adaptation of saccades.

Adaptation, Psychological↗

Whipple's disease mimicking progressive supranuclear palsy: the diagnostic value of eye movement recording.

Treatable causes of parkinsonian syndromes are rare; Whipple's disease is one of them. A patient is described who presented with a parkinsonian syndrome and abnormal vertical gaze. Measurement of eye movements showed marked slowing of upward saccades, moderate slowing of downward saccades, a full range of voluntary vertical eye movements, curved trajectories of oblique saccades, and absence of square wave jerks. These features, atypical of progressive supranuclear palsy, suggested the diagnosis of Whipple's disease, which was subsequently confirmed by polymerase chain reaction analysis of intestinal biopsy material. Precise measurement of the dynamic properties of saccadic eye movements in parkinsonian patients may provide a means of identifying treatable disorders.

Biopsy↗

Latent and congenital nystagmus in Down syndrome.

OBJECTIVES: Although nystagmus has been reported in Down syndrome (DS), it has been poorly characterized, because most investigators have relied on clinical observations rather than on eye movement recordings. This study was conducted to investigate nystagmus in DS, using quantitative measurements of eye movements. METHODS: Ocular motility and visual functions were examined in 26 unselected adults with DS and compared with those in an age-matched group of 35 subjects with other causes of mental retardation. The eye movements of those with clinically evident nystagmus were recorded with the infrared technique. We also recorded the eye movements of a child with DS and nystagmus. RESULTS: Nystagmus was identified in six (23%) adults with DS and in none in the control group. All six patients showed latent/manifest latent nystagmus (LMLN), prominent with the covering of one eye, and esodeviations of 10 to 30 prism diopters. Eye movement recordings confirmed LMLN with its exponentially decaying waveform. Frequencies ranged from 2 to 5 Hz and amplitudes from 5 degrees to 20 degrees. While attempting to fixate straight ahead in the absence of visual cues, three subjects exhibited shifts in the mean eye position. In contrast with the findings in adults, the only child with DS examined had both congenital nystagmus and LMLN waveforms. CONCLUSIONS: The predominant type of nystagmus in the study subjects with DS is LMLN. The high prevalence of LMLN may reflect abnormal integration of visuospatial information that is typical of DS. The concurrent presence of congenital nystagmus in a child but only LMLN in the adults with DS raises the possibility of age-related waveform changes or could reflect sample variation.

Adult↗

Pendular nystagmus in patients with peroxisomal assembly disorder.

BACKGROUND: Pendular nystagmus commonly occurs in congenital and acquired disorders of myelin. OBJECTIVE: To characterize the nystagmus in 3 siblings with an infantile form of an autosomal recessive peroxisomal assembly disorder causing leukodystrophy. DESIGN: We examined visual function and measured eye movements using infrared oculography. We noted changes in eye speed and frequency before and after the administration of gabapentin to 1 patient. RESULTS: All 3 siblings showed optic atrophy and pendular nystagmus that was predominantly horizontal, at a frequency of 3 to 6 Hz, with phase shifts of 45 degrees to 80 degrees between the oscillations of each eye. Gabapentin administered to 1 child caused a modest improvement of vision and the reduction of the velocity and frequency of oscillations in the eye with worse nystagmus. CONCLUSION: The pendular nystagmus in these patients was due to their leukodystrophy and may have a similar pathogenesis to the oscillations seen in other disorders affecting central myelin.

Adolescent↗

Slow vertical saccades in motor neuron disease: correlation of structure and function.

We studied eye movements and brainstem pathology in 2 patients with slow vertical saccades and autopsy-proven amyotrophic lateral sclerosis (ALS). In both patients, the main ocular motor finding was supranuclear vertical gaze impairment with slow vertical saccades. The second patient had difficulty opening his eyes on command, with preserved spontaneous eyelid opening. Postmortem examination in both patients demonstrated cell loss in the rostral interstitial nucleus of the medial longitudinal fasciculus (riMLF) and substantia nigra, along with histopathological findings consistent with ALS. The extent of the pathological changes in the riMLF correlated well with the degree of functional impairment as reflected in the slow vertical saccades. We suggest that motor neuron disease with early involvement of vertical saccades represents a distinct clinicopathological entity.

Amyotrophic Lateral Sclerosis↗

Clinical evidence of extraocular muscle fiber-type specificity of botulinum toxin.

OBJECTIVE: To compare the effects of botulinum toxin on static and dynamic aspects of eye movements, and thereby elucidate the mechanisms of its action on eye muscles. BACKGROUND: Laboratory evidence indicates that static alignment and saccades are subserved by different extraocular muscle fiber types, and botulinum toxin may cause specific dysfunction of the fibers controlling static alignment. Diplopia is a well-known side effect of periorbital botulinum toxin injections in humans, and may be a clinical correlate of the laboratory findings. METHODS: Search coil recording of eye movements was performed in one patient with systemic botulism, and in three patients with diplopia following periorbital injection of botulinum toxin A. RESULTS: In the patient with acute botulism, eye movement alignment, range, and saccadic velocity profiles were abnormal. In three patients with iatrogenic diplopia, static alignment was abnormal but movement range and saccadic velocities were within normal limits. Edrophonium improved the range of movements and saccadic velocities in the patient with systemic botulism but was ineffective in reversing ocular misalignment in the one iatrogenic patient to whom it was administered. CONCLUSIONS: Precise alignment is subserved by orbital singly innervated muscle fibers, and the effects of botulinum toxin are greatest on these fibers. This predilection is apparent when the toxin dose is very small, as must have been the case in our patients with iatrogenic diplopia. The lack of a response to edrophonium probably reflects structural damage to muscle fibers. In contrast, larger doses of toxin produce an acute dysfunction of all extraocular muscle fiber types, which is responsive to edrophonium and consequently reflects partial blockade at the neuromuscular junction.

Adult↗

A double-blind controlled study of gabapentin and baclofen as treatment for acquired nystagmus.

We conducted a double-blind crossover trial comparing gabapentin (up to 900 mg/day) to baclofen (up to 30 mg/day) as therapy for acquired nystagmus in 21 patients. We measured visual acuity and the nystagmus before, and at the end of, 2 weeks on each medication. For a group of 15 patients with acquired pendular nystagmus (APN), visual acuity improved significantly with gabapentin, but not with baclofen. Gabapentin significantly reduced APN median eye speed in all three planes, but baclofen did so only in the vertical plane. In 10 patients with APN, the reduction of nystagmus with gabapentin was substantial and 8 of these elected to continue taking the drug. In 6 patients with downbeat or torsional downbeat nystagmus, changes in median slow-phase eye speed were less consistent with both drugs, either increasing or decreasing, and being dependent on viewing conditions. Only 1 patient showed consistent reduction of median eye speed, and this was achieved by either drug. Our findings suggest that gabapentin may be an effective treatment for many patients with APN and that occasional patients with downbeat nystagmus will respond to gabapentin or baclofen.

Acetates↗

Neurology of the eyelids.

The role of eyelids is to provide maximal protection to the eyeball without interfering with vision. To accomplish this purpose, an intricate neural network coordinates the lid and eye movements. The lid-eye synkinesis is ultimately based on common innervation of the levator palpebrae superioris (LPS) and the superior rectus muscles. The LPS is variously affected in numerous neurologic disorders. Because the eyelids are readily accessible for inspection, and because they conform to the fundamental laws of neurophysiology, different syndromes of eyelid dysfunction are of great value in topologic diagnosis.

Animals↗

Torsional eye movements in patients with skew deviation and spasmodic torticollis: responses to static and dynamic head roll.

We measured torsional eye movements induced by sinusoidal rotation or static tilt, of the head in roll while viewing a far or near target in 4 patients with skew deviation due to brainstem lesions, 4 patients with spasmodic torticollis (ST), 2 patients with unilateral eighth nerve section (VIIIS), and 10 normal subjects. Torsional nystagmus was present in all 4 patients with skew deviation. In subjects and patients, responses to both sinusoidal and static roll were larger while viewing the far target, consistent with factors dictated by geometry. Response gains to sinusoidal roll were abnormal in 3 patients with skew (increased in one, decreased in two), abnormal in 3 with ST (increased in 1, decreased in 2), and in abnormal both VIIIS patients (decreased). Greater abnormalities were evident in 3 skew patients while rolling away from the side of their brainstem lesions and in both VIIIS patients while rolling toward their lesioned ears. There were similar but less pronounced changes during static head roll. We conclude that patients with skew, ST, and VIIIS may all have abnormal ocular counter-rolling that is more evident during dynamic testing while viewing a far target. Such abnormalities endure because of the limited influence exerted by vision on torsional eye movements.

Adult↗

Medical treatments for abnormal eye movements: pharmacological, optical and immunological strategies.

PURPOSE: To review current medical treatments for nystagmus and saccadic intrusions, and their visual consequences. METHODS: Evaluation of studies that have used reliable measurement of eye movements and visual acuity before and after treatment. Interpretation of results in light of physiological and pharmacological studies in animals, and recent immunological advances. RESULTS: There are many case reports of patients with abnormal eye movements being improved by a variety of drugs, but few double-blind, controlled studies have been carried out. Most promising are agents that mediate their effects through the neurotransmitter gamma-aminobutyric acid; such drugs include baclofen and gabapentin. Botulinum toxin, injected into selected extraocular muscles or the retrobulbar space, can abolish nystagmus for several months, but often produces troublesome side-effects, such as diplopia and ptosis, which limit its value. Optical measures to either reduce nystagmus by manipulating vergence angle, or reduce retinal image motion, help some patients. Opsoclonus occurring in association with cancer may be successfully treated with an immuno-adsorption technique using a protein A column. CONCLUSIONS: There is need for controlled, blinded studies to evaluate the many agents reported to improve visual symptoms in individual patients with abnormal eye movements.

Animals↗