Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report four patients with internuclear ophthalmoplegia and torsional nystagmus, ipsiversive to the side of the medial longitudinal fasciculus (MLF) lesion. The MLF lesion could be responsible for an inactivation of the ipsilateral interstitial nucleus of Cajal inducing a contraversive slow phase. The presence of a corrective ipsiversive quick phase implicates an intact rostral interstitial nucleus of the MLF.
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PMID:Unilateral internuclear ophthalmoplegia and ipsiversive torsional nystagmus. 880 19

A clinical evaluation of visual and central oculomotor defects are presented in a series of 56 patients who were HIV carriers, of whom 47 fulfilled criteria for AIDS. Changes were detected in 22% of the asymptomatic patients (2/9), in 36% of the AIDS patients with no neurological complications and in 93% (15/16) of the AIDS patients with neurological involvement. Some changes were seen in 55% of the patients with AIDS. The commonest defects were alterations of saccadic movements and visual pursuit (35% respectively) and of opticokinetic nystagmus (28%). Only one homonymous visual defect was found. No brain stem syndromes were seen, except for one case of bilateral internuclear ophthalmoplegia. The commonest neurological complications were toxoplasmosis, the AIDS dementia complex (ADC) and multifocal leukoencephalopathy (MLP). Neuro-ophthalmological changes are described, in the literature, in 2-12%. Central oculomotor disorders, including supranuclear, nuclear and internuclear ophthalmoplegias are frequent and probably underestimated. Nystagmus is a common sign and there are isolated descriptions of flutter, opsoclonus and ocular dipping. The causes of visual and oculomotor changes reflect the incidence of parenchymatous neurological complications of AIDS. MLP is the commonest cause of change in the retrogeniculate optic pathways. Oculographic studies show changes in saccadic movements and ocular pursuit and signs of unstable visual fixation. These changes are seen in all ADC patients, in a large proportion of those without dementia and also in asymptomatic carriers, suggesting that oculography may be useful for prognosis.
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PMID:[Visual and central oculomotor disorders in patients with acquired immunodeficiency syndrome]. 906 84

A 15-month-old female infant with nystagmus, gait disturbance, diminished reflexes, ophthalmoplegia, and facial paresis was diagnosed as having Fisher syndrome. Magnetic resonance imaging revealed a transient, high-signal-intensity lesion on the left side of the cerebellum on T2-weighted images. The ataxia of Fisher syndrome is not compatible with polyneuritis, but can be explained by a cerebellar lesion, as seen in this case.
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PMID:MRI of an infant with Fisher syndrome. 910 45

We attempted to increase the sensitivity for detection of abnormal binocular saccadic eye movements, particularly of the internuclear ophthalmoplegia (INO) type associated with multiple sclerosis (MS). Saccades of 10 and 20 degrees were binocularly recorded with scleral sensor coils in 10 normal control subjects and 26 patients with definite or probable MS, seven of whom had a clinically manifest INO in one or both directions. In the cases in which this was accompanied by a dissociated nystagmus of the abducting eye, our recordings showed that such secondary saccades were also expressed, in a strongly reduced form, by the adducting eye. The patients with manifest INO showed lower average peak velocities and peak accelerations, especially for adduction of the eye on the affected side, but the distribution of these parameters overlapped with the normal distribution. A much sharper distinction between normals and patients with INOs was found by considering the ratios between peak accelerations and velocities of saccade pairs (abducting eye/adducting eye). These ratios, which eliminate much intra- and inter-individual variability, had a narrow range in normals, and all values for INOs were outside this range. On this basis, the 19 patients without clinically manifest INO were easily separated into subgroups of 14 patients with completely normal interocular ratios and five patients with elevated peak velocity and acceleration ratios, identified as sub-clinical (uni- or bilateral) INOs. Measurements of vertical saccades and of interocular timing differences provided no useful criteria for disturbances of binocular coordination in MS. We conclude that in particular, the acceleration of the adducting eye is strongly reduced in patients with an INO, and that this reduction is best identified by interocular comparison between binocular pairs of saccades.
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PMID:Binocular saccadic eye movements in multiple sclerosis. 912 91

Patients with supranuclear and internuclear ocular motility disorders may have nystagmus and oscillopsia, or need to adopt an abnormal head posture to either fixate or maintain binocularity. Many have a cosmetically unsatisfactory appearance. In addition, because of lesions involving ocular motor nuclei or nerve fascicles, double vision is also a common problem. The usual management of these patients is symptomatic with occlusion or prisms. We report on 11 patients who underwent extraocular muscle surgery with the aim of reducing symptoms and restoring or improving binocular single vision. Three patients had bilateral internuclear ophthalmoplegia with exotropia, 3 had dorsal midbrain syndrome, 2 had residual upgaze palsies after cerebral vascular accidents, 2 had oculopalatal myoclonus and one skew deviation. After surgery, symptoms, visual function and cosmesis improved in nearly all patients. We recommend that surgery should be considered more readily in the rehabilitation of these patients.
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PMID:Surgical treatment of supranuclear and internuclear ocular motility disorders. 937 80

Many reports in the literature describe a variety of ocular signs in myasthenia gravis. To determine the utility of laboratory recordings of ocular signs in the evaluation for myasthenia, we reviewed all previous studies of quantitative measures of eye movements or intra-ocular pressures. We selected those studies with data presented for both myasthenic and non-myasthenic ocular palsies. Signal detection theory was used to evaluate the discriminative power of each variable. The characteristics of saccades and quick phases of optokinetic nystagmus at the start of recording were poor at distinguishing between myasthenic and non-myasthenic palsies, except when the comparison was solely between myasthenia and chronic progressive external ophthalmoplegia. The effects of fatigue on saccadic parameters were also not discriminative, though there was insufficient data to evaluate this adequately. Changes induced by edrophonium in the amplitude or peak velocity of saccades or optokinetic quick phases were good diagnostic tests, retaining high sensitivities when criteria were set to yield a specificity of 95%. Most of these parameters were less efficient as screening tests, with modest specificities when criteria were set to yield a sensitivity of 95%. The change in optokinetic quick phase amplitude recorded by infrared oculography was the best test, with ideal characteristics of 97% specificity and sensitivity at a criterion of zero change. This analysis suggests that eye movement recordings of saccades or optokinetic nystagmus have potential as useful and inexpensive tests for myasthenia, and warrant further study.
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PMID:Quantitative ocular tests for myasthenia gravis: a comparative review with detection theory analysis. 956 31

Machado-Joseph disease (MJD) is an autosomal dominantly inherited neurodegenerative disorder characterized by varying age of onset and pronounced phenotypic heterogeneity. The clinical core features include gait ataxia, external ophthalmoplegia, nystagmus, and bulging eyes. Recently, Kawagushi et al. (1994) cloned the MJD1 gene on chromosome 14 and MJD turned out to be the fifth neurodegenerative disease caused by an unstable CAG repeat expansion. We have studied two large Danish families and one Norwegian family with MJD. Three features not previously associated with MJD are reported: dementia, generalized muscle and joint pain, and in one case neuropathological examination revealed atrophy of the inferior olives. We found a significant inverse correlation between age of onset and the length of the CAG repeat expansion, and anticipation is described through four succeeding generations. Instability of the CAG repeat expansion was most pronounced at paternal transmission.
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PMID:Machado-Joseph disease in three Scandinavian families. 958 50

A 29-year-old man developed drowsiness, ophthalmoplegia and cerebellar ataxia following upper respiratory tract infection. We diagnosed the patient as having a Bickerstaff's brainstem encephalitis. There was upbeating nystagmus which appeared with upward gaze, and bilateral horizontal gaze-evoked nystagmus in both directions. On electronystagmography, eye-tracking test showed saccadic pattern with impaired smooth pursuit eye movement. The horizontal optokinetic nystagmus test showed diminution of response. These results suggested that brainstem and cerebellum were widely involved. Presence of nystagmus may help to speculate the lesion of Bickerstaff's brainstem encephalitis.
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PMID:[Bickerstaff's brainstem encephalitis associated with nystagmus]. 974 79

A 36-year-old woman exhibited slurred speech, progressive ataxia, blurred vision, and oscillopsia. Examination showed dysconjugate torsional nystagmus and bilateral internuclear ophthalmoplegia (INO). Further investigation revealed evidence of chronic toluene abuse. The neurologic findings in toluene abuse and the causes of bilateral INO are discussed.
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PMID:Bilateral internuclear ophthalmoplegia related to chronic toluene abuse. 985 12

Mutations in nuclear or mitochondrial DNA may cause disorders of neuro-ophthalmic significance. These include disorders of the optic nerve, such as Leber's hereditary optic neuropathy and Kjer-type optic atrophy, and disorders of ocular motility, such as congenital nystagmus, autosomal dominant progressive external ophthalmoplegia, and oculopharyngeal muscular dystrophy. In addition to more accurate disease classification and diagnosis, identification of genetic loci, genes, and their mutations has stimulated investigation into factors influencing disease expression and penetrance.
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PMID:Neuro-ophthalmic genetics. 1017 1


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