Cases reported "Ocular Motility Disorders"

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1/25. Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis.

    Congenital ocular motor apraxia type Cogan is characterized by impairment of horizontal voluntary eye movements, ocular attraction movements, and optokinetic nystagmus. Two patients with congenital ocular motor apraxia type Cogan exhibited a newly recognized association with nephronophthisis type 1, an autosomal recessive kidney disease. Both patients possess large deletions of the NPHP1 gene. The deletion occurred on both chromosomes 2q13 in one patient and heterozygously in combination with a point mutation of the NPHP1 gene in the other. The findings will help to elucidate the pathogenetic processes involved.
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2/25. Ocular motor signs in an infant with carbohydrate-deficient glycoprotein syndrome type Ia.

    PURPOSE: To document the evolution of ocular motor abnormalities in an infant with carbohydrate-deficient glycoprotein syndrome. methods: Case report. An infant with carbohydrate-deficient glycoprotein syndrome type 1a underwent magnetic resonance imaging and infrared eye movement recording. RESULTS: A 10-month-old male with carbohydrate-deficient glycoprotein syndrome type Ia had rapid horizontal oscillations of the eyes when startled or awakened from sleep. Clinical examination confirmed this finding and disclosed congenital ocular motor apraxia with a reduced vestibulo-ocular reflex. Infrared eye movement recording showed ocular flutter and square wave jerks superimposed on a horizontal pendular nystagmus. magnetic resonance imaging showed diffuse cerebellar hypoplasia. CONCLUSION: Carbohydrate-deficient glycoprotein syndrome type Ia can be associated with multiple cerebellar eye signs including ocular flutter, square-wave jerks, and congenital ocular motor apraxia.
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3/25. Opsoclonus in three dimensions: oculographic, neuropathologic and modelling correlates.

    Opsoclonus is a dyskinesia consisting of involuntary, arrhythmic, chaotic, multidirectional saccades, without intersaccadic intervals. We used a magnetic scleral search coil technique to study opsoclonus in two patients with paraneoplastic complications of lung carcinoma. Eye movement recordings provided evidence that opsoclonus is a three-dimensional oscillation, consisting of torsional, horizontal, and vertical components. Torsional nystagmus was also present in one patient. Antineuronal antibody study revealed the presence of anti-Ta (Ma2 onco-neuronal antigen) antibodies in one patient, which had previously been associated only with paraneoplastic limbic encephalitis and brainstem dysfunction, but not opsoclonus, and only in patients with testicular or breast cancer. Neuropathologic examination revealed mild paraneoplastic encephalitis. Normal neurons identified in the nucleus raphe interpositus (rip) do not support postulated dysfunction of omnipause cells in the pathogenesis of opsoclonus. computer simulation of a model of the saccadic system indicated that disinhibition of the oculomotor region of the fastigial nucleus (FOR) in the cerebellum can generate opsoclonus. Histopathological examination revealed inflammation and gliosis in the fastigial nucleus. This morphological finding is consistent with, but not necessary to confirm, damage to afferent projections to the FOR, as determined by the model. Malfunction of purkinje cells in the dorsal vermis, which inhibit the FOR, may cause opsoclonus by disinhibiting it.
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keywords = nystagmus
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4/25. Ocular myasthenia mimicking a one-and-a-half syndrome.

    A 52-year-old patient developed an eye movement disorder first resembling a left internuclear ophthalmoplegia and subsequently a "one-and-a-half syndrome" as the presenting symptoms of ocular myasthenia gravis. No accompanying myasthenic features were present except for the fluctuation in the amplitude of dissociated nystagmus. This patient shows that an oculomotor disorder considered a typical pontine lesion may instead be caused by myasthenia gravis, even in the absence of other clinical and electrophysiologic features of neuromuscular deficit.
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5/25. Onset of oscillopsia after visual maturation in patients with congenital nystagmus.

    PURPOSE: To describe the clinical and oculographic characteristics of a cohort of five patients with congenital nystagmus (CN) and late-onset oscillopsia caused by a coincidental decline in other visual and/or ocular motor functions. DESIGN: Retrospective, observational, case series. PARTICIPANTS: Five visually mature patients with CN and recent-onset oscillopsia were evaluated clinically and with motility recordings. INTERVENTION: Eye movement analysis was performed off-line by computer analysis of digitized data. Nystagmus was analyzed for null-zone characteristics, waveforms, frequency, amplitudes, and slow-phase drift velocity during foveation. Surgical and medical treatment of associated ocular conditions in four of five patients. MAIN OUTCOME MEASURES: Presence of symptomatic oscillopsia and average time during foveation periods of slow-phase drift velocity less than 10 degrees /second. RESULTS: One of the five patients had associated rod-cone dystrophy, and another had recurrence of childhood head posturing with return of an eccentric null zone. The remaining three patients had decompensated strabismus associated with their oscillopsia. All five patients complained of oscillopsia in primary position that was relieved in the four who received treatment. Treatment included prismatic correction in one patient and surgery in three. Recordings in primary position after treatment showed increased duration during foveation periods of slow-phase drift velocity less than 10 degrees /second and an overall decreased intensity (amplitude/frequency) of the nystagmus. CONCLUSIONS: Symptomatic oscillopsia in patients with CN is unusual. This visually disturbing symptom can be precipitated by new or changing associated visual sensory conditions (e.g., decompensating strabismus, retinal degeneration). If the associated conditions can be treated, then accompanying oscillopsia may be relieved.
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ranking = 6
keywords = nystagmus
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6/25. Ocular motility in genetically defined autosomal dominant cerebellar ataxia.

    PURPOSE: To describe ocular motility in patients having genetically characterized dominant cerebellar ataxia. DESIGN: Observational case series. METHOD: Nine ataxic adults having the following molecular genetic diagnoses underwent ophthalmic examination and ocular motility recordings: four with spinocerebellar ataxia type 6 (SCA-6), three with SCA-3, one with SCA-1, and one with episodic ataxia type 2 (EA-2). RESULTS: Versions were normal in eight patients. Most were orthotropic, but one with SCA-3 had exotropia at near. The near point of convergence was remote in five patients. Eight of nine patients had horizontal nystagmus evoked by lateral gaze. All patients with SCA-6 had downbeat nystagmus. Downbeat nystagmus was absent in SCA-1, SCA-3, and EA-2. Three patients with SCA-6 and one with EA-2 had symptomatic improvement when treated with acetazolamide. CONCLUSION: patients with genetically defined dominant cerebellar ataxia generally had normal binocular alignment and versions and only mild vergence impairment. Downbeat nystagmus was strongly associated with the SCA-6 mutation, whose associated episodes of dizziness and imbalance may be relieved by acetazolamide.
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ranking = 4
keywords = nystagmus
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7/25. Internuclear ophthalmoplegia associated with transient torsional nystagmus.

    The association of internuclear ophthalmoplegia (INO) with torsional nystagmus is rare. We report the case of a 63-year-old man presenting with sudden onset of diplopia. On ocular examination, he had left INO and a torsional nystagmus with counter-clockwise quick-phases from the patient's point of view in the primary position, ipsiversive to the side of the medical longitudinal fasciculus (MLF) lesion at the pontomesencephalic junction on magnetic resonance images. Neither skew deviation nor head tilting was noted at that time. Two days later, the torsional nystagmus disappeared, although the limitation of adduction in the left eye remained. We speculate that with sparing of the rostral interstitial nucleus of the MLF, a small lesion in the MLF may involve the ipsilateral vertical integrator, the interstitial nucleus of Cajal, producing an INO associated with a transient ipsiversive torsional nystagmus.
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ranking = 8
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8/25. The objective assessment of abnormal eye movements in infants and young children.

    Recordings of eye movements from infants and young children can be of clinical value in patients with certain neuro-ophthalmological problems. This requires that the characteristics of normal eye movements in this same age-group are known. Using an electro-oculographic technique in a specially developed laboratory we have been able to assess the saccades, binocular and monocular smooth pursuit, binocular and monocular optokinetic nystagmus (OKN), and sustained vestibular rotation in infants and young children; these recordings were performed in one session lasting approximately 35 minutes. The recordings from four children with abnormal eye movements (delayed visual maturation, hemicerebral cyst, congenital ocular motor apraxia, and gaze-paretic nystagmus) are briefly reported and compared to normal eye movements of age-related children. The limitations of this procedure are discussed.
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ranking = 2
keywords = nystagmus
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9/25. Internuclear ophthalmoplegia and torsional nystagmus: an MRI correlate.

    The association of internuclear ophthalmoplegia (INO) with torsional nystagmus is rare. We report a case of a 72-year-old male who developed brainstem stroke and was found to have left INO with torsional nystagmus. An MRI correlation in this case has been described.
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ranking = 6
keywords = nystagmus
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10/25. Progressive ataxia and palatal tremor (PAPT): clinical and MRI assessment with review of palatal tremors.

    Palatal tremor has been subdivided into essential (EPT) and symptomatic palatal tremor (SPT). A subgroup of the SPT form has a syndrome of progressive ataxia and palatal tremor (PAPT). Published details of cases of PAPT are sparse and the disorder appears heterogeneous. We present clinical and MRI features of six patients with sporadic PAPT who attended The University health Network between 1991 and 2002. eye movements were recorded using a magnetic search coil technique. We review previously reported cases of PAPT from the English language literature and relate this disorder to EPT and SPT. PAPT may be divided into sporadic and familial forms. We identified 22 other prior reported cases of sporadic PAPT. Sporadic PAPT is a subtype of SPT in which progressive cerebellar degeneration is the most symptomatic feature. A combination of vertical nystagmus and palatal tremor was found in one of our cases. Internuclear ophthalmoplegia, a new finding, was present in two of our patients and indicated additional brainstem dysfunction. Inferior olivary high signal abnormalities were present on MRI in all of our cases. The cause of sporadic PAPT remains uncertain. In some previous reports of sporadic PAPT, the combination of brainstem or pontine atrophy, parkinsonism, autonomic dysfunction or corticospinal tract abnormalities suggests a diagnosis of multiple system atrophy, although pathological verification is lacking. Familial PAPT is associated with marked brainstem and cervical cord atrophy with corticospinal tract findings, but the typical olivary MRI abnormalities have not been reported. A substitution in the glial fibrillary acidic protein (GFAP) gene has been described in a family with PAPT, raising the possibility of Alexander's disease. One other familial syndrome of PAPT, termed 'dark dentate disease', has also been reported. PAPT is a subgroup of SPT in which ataxia progresses and is not usually the result of a monophasic illness. Eye movement abnormalities suggest a disorder of both the cerebellum and brainstem. Familial PAPT differs from sporadic PAPT in having marked atrophy of cervical cord and brainstem with corticospinal signs but without hypertrophic olivary appearance on MRI.
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