Cases reported "Strabismus"

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11/46. Congenital nystagmus, anisomyopia, and hemimegalencephaly in the klippel-trenaunay-weber syndrome.

    klippel-trenaunay-weber syndrome is a rare phacomatosis of uncertain aetiology, variable expression, and disputed pathogenesis, whose cardinal signs are cutaneous angiomas, varicosities, tissue hypertrophy, and arteriovenous fistulae. The case reported herein is the first description of an unusual variant with limb and facial hemihypertrophy, congenital nystagmus, progressive ipsilateral anisomyopia, and strabismus. We review the ophthalmic findings and report the co-occurrence of hemimegalencephaly with congenital nystagmus and ipsilateral axial anisomyopia.
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12/46. Dissociated vertical deviation in a patient with Duane's retraction syndrome.

    Dissociated vertical deviation is a not uncommon strabismic syndrome characterized by upward deviation of an eye when occluded, with downward movement of the eye when occlusion is removed. Associated findings include latent nystagmus and horizontal strabismus. Duane's retraction syndrome is the clinical declaration of anomalous cranial nerve innervation characterized by a marked limitation or absence of abduction, variable limitation of adduction, narrowing of the palpebral fissure, and apparent globe retraction on attempted adduction. We report a patient with both dissociated vertical deviation and bilateral Duane's retraction syndrome, demonstrating that dissociated vertical deviation can occur with the anomalous neuroanatomic substrate present in Duane's retraction syndrome.
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keywords = nystagmus
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13/46. Ocular manifestations in Fukuyama type congenital muscular dystrophy.

    We describe a child with Fukuyama type congenital muscular dystrophy (FCMD) who had several ocular manifestations since birth. These included high myopia, strabismus, nystagmus and optic atrophy of both eyes. Later he developed retinal detachment of both eyes. Our survey of 33 cases with FCMD revealed that high myopia and optic atrophy are common in FCMD. retinal detachment was reported in two cases in addition to the present one and was considered to be of developmental origin. The association of congenital muscular dystrophy with brain changes and ocular anomalies were found in FCMD, muscle, eye and brain disease (MEB) and walker-warburg syndrome (WWS). Ocular manifestations in FCMD were, in general, less severe than those in WWS or MEB. Our study suggests that FCMD, MEB and WWS are developmental abnormalities with a continual spectrum of disease severity.
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keywords = nystagmus
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14/46. Ocular and systemic findings in the Aarskog (facial-digital-genital) syndrome.

    The Aarskog (facial-digital-genital) syndrome is an X-linked disorder in which short stature is accompanied by hypertelorism, digital anomalies, and shawl scrotum. Except for hypertelorism and blepharoptosis, ophthalmic abnormalities have been rarely noted in this condition. We examined four patients who had Aarskog syndrome and unilaterally or bilaterally decreased vision on initial examination. Three family members had V-pattern esotropia, latent nystagmus, inferior oblique overaction, and amblyopia. A fourth patient had bilateral blepharoptosis and severe astigmatism. Other ocular features included hyperopia, anisometropia, deficient ocular elevation, blue sclerae, and posterior embryotoxon. These findings underscore the need for ophthalmic examination in asymptomatic patients with Aarskog syndrome to rule out treatable causes of visual loss.
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keywords = nystagmus
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15/46. Treatment of manifest latent nystagmus.

    Eight patients with manifest latent nystagmus, as noted by ocular movement recordings, were examined for nystagmus reduction after surgical or optical treatment. Seven of the patients had strabismus. Five patients underwent strabismus surgery, had no tropia postoperatively, and the manifest latent nystagmus converted to latent nystagmus. Four of these five patients subsequently showed improvement in binocular visual acuity. Three patients received optical treatment; one had accommodative esotropia and, with appropriate spectacle correction, the manifest latent nystagmus was converted to latent nystagmus with improved vision. In the other two patients the manifest latent nystagmus lessened after correction with appropriate spectacles; binocular visual acuity of one of these patients improved. The possibility of converting manifest latent nystagmus to latent nystagmus by strabismus surgery is a reasonable surgical goal. In patients with manifest latent nystagmus and strabismus, surgical or optical alignment of the eyes decreases the nystagmus intensity and may also improve binocular visual acuity.
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16/46. Congenital adduction palsy and synergistic divergence: a clinical and electro-oculographic study.

    We studied two patients with a peculiar congenital disturbance of ocular motility in which the horizontal movements of the left eye were always opposite the normal expected direction. The common features were: (1) congenital monocular adduction palsy and exotropia of the left eye; (2) simultaneous abduction of both eyes (divergence) on attempted dextroversion; (3) ocular torticollis, head turned to the right; and (4) inverse nystagmus of the left eye, occurring spontaneously as well as during optokinetic and vestibular testing. Clinical and electrooculographic findings suggested a close relationship to Duane's retraction syndrome and supported the concept that innervational mechanisms were responsible for the phenomenon.
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keywords = nystagmus
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17/46. Pseudo-internuclear ophthalmoplegia with downshoot in myasthenia gravis.

    Internuclear ophthalmoplegia is characterized by an adduction deficit on lateral gaze with dissociated nystagmus of the abducting eye. It is seen with lesions of the medial longitudinal fasciculus. In myasthenia gravis, extraocular muscle weakness can cause the same oculomotor pattern, which has been referred to as pseudo-internuclear ophthalmoplegia. We report the additional finding of downshoot in the adducting eye in two patients with pseudo-internuclear ophthalmoplegia and positive Tensilon tests.
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ranking = 0.16666666666667
keywords = nystagmus
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18/46. Acute thalamic esotropia.

    Three men developed acute esotropia, stupor, and impaired upward gaze. Vestibulo-ocular stimulation showed that the adducted eye remained immobile while the fellow eye responded normally. The alteration of consciousness, the long-tract neurologic signs, and the esotropia quickly resolved. Upgaze paresis and brief bursts of convergence-retraction nystagmus were the major residual signs. Imaging techniques demonstrated lesions of the contralateral posterior thalamus in each patient. Several mechanisms are proposed to explain the acute esotropia. Impairment of monocular projections in the contralateral posterior thalamus could disinhibit neurons in the oculomotor complex, or ischemia of inputs to neurons involved with vergence control in the midbrain could result in tonic activation of the medial rectus. The clinical and radiographic findings are consistent with infarction in the territory of penetrating branches of the basilar-communicating (mesencephalic) artery. embolism to the top of the basilar artery is presumed to be the precipitating event.
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ranking = 0.16666666666667
keywords = nystagmus
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19/46. Overgrowth, congenital hypotonia, nystagmus, strabismus, and mental retardation: variant of dominantly inherited Sotos sequence?

    We report on 2 patients with macrocephaly, strabismus, esotropia, nystagmus, hypotonia, developmental delay, excessive size, unusual facial appearance, and improvement with age. Many of these abnormalities are present in Sotos sequence. The mothers of both patients share some characteristics with their children. These patients may represent an autosomal dominant form of Sotos sequence.
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keywords = nystagmus
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20/46. Single-eyed infantile esotropia-abductional nystagmus syndrome (unilateral convergent squint following enucleation).

    Three infants underwent enucleation of one eye for different indications. This was followed by the development of esotropia of varying degree within one to four months in all the three cases, and was associated with a coarse nystagmus present in abduction, but absent in the primary and adducted positions of gaze. There was a face turn to the side of remaining eye. This appears to be a separate clinical entity and not early onset esotropia. Possible mechanisms and medicolegal implications are discussed.
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keywords = nystagmus
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