Cases reported "Nystagmus, Pathologic"

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1/33. A case of paroxysmal tonic upgaze of childhood with ataxia.

    Paroxysmal tonic upgaze of childhood is a rare, distinctive, childhood syndrome that may be associated with ataxia and sometimes strabismus or amblyopia. Neurological examination as well as metabolic studies, electroencephalogram and neuroradiological investigations are normal in these patients. Although it has been considered as an age-related, dopa-sensitive dystonia, the exact pathogenetic mechanism is still unknown. Aggravation of attacks by fatigue, intercurrent infection or vaccination, and possible corticomesencephalic dysmaturation may underlie this abnormality. We report on a sporadic case of paroxysmal tonic upgaze with ataxia in which there was prompt aggravation of symptoms with sleep without response to levodopa treatment. This case suggests a different underlying pathogenetic mechanism from dopaminergic pathways for this syndrome.
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ranking = 1
keywords = strabismus
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2/33. Perinatally ruptured dermoid cyst presenting as congenital oculomotor palsy.

    An eight-month-old girl presented with congenital exotropia and latent nystagmus. Further evaluation revealed congenital ptosis of the left eye and restriction of the elevation, depression and adduction of the left eye. A diagnosis of congenital oculomotor palsy was made. At the age of three months she had been examined by the neurologist because of retarded psychomotor development. All laboratory investigations were normal. At the age of eight months, a CT scan of the brain and orbit was found to be normal. The patient was treated for amblyopia. At the age of five, strabismus surgery was performed, and a large fibrous tumor encapsulating the superior and lateral rectus muscle was found. A biopsy was taken and pathology showed fibrous tissue containing a hair. Based on the clinical history, the diagnosis of a perinatally ruptured orbital dermoid cyst was made. review of the previous CT and an additional CT showed enlargement of the left lateral orbital wall with a notch in the lateral wall, indicative of a dermoid cyst.
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ranking = 2.2266028719492
keywords = exotropia, strabismus
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3/33. Spontaneous reversal of nystagmus in the dark.

    AIM: To report five children with horizontal jerk nystagmus in whom eye movement recordings in the dark revealed a spontaneous reversal in the direction of the nystagmus beat. Three patients were blind in one eye and were diagnosed as having a manifest latent nystagmus (MLN), and two patients had strabismus and congenital nystagmus (CN). methods: eye movements were recorded using DC electro-oculography with simultaneous video recording, including infrared recording in total darkness. RESULTS: Four patients had decelerating velocity slow phase jerk nystagmus when recorded under natural lighting conditions; the fifth case had accelerating velocity and linear slow phase jerk nystagmus. Under absolute darkness, nystagmus reversed in direction of beat with a mixture of linear and decelerating velocity slow phase waveforms. One child with unilateral anophthalmos could wilfully reverse the beat direction of his nystagmus by trying to look with his blind eye in the light and dark. CONCLUSIONS: These observations support the theory that LN/MLN beat direction is determined by the "presumed" viewing eye and may be consciously controlled. The spontaneous reversal of beat direction in the dark suggests eye dominance is predetermined. Eye movement recordings identified mixed nystagmus waveforms indicating that CN (accelerating velocity slow phases) and LN/MLN (linear/decelerating velocity slow phases) coexist in these subjects.
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ranking = 1
keywords = strabismus
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4/33. Maximal subtotal extirpation of the horizontal rectus extraocular muscles for the treatment of nystagmus with no null point. A report of four successful human cases.

    PURPOSE: To evaluate the visual and restoration of normal appearance results of maximal excision of the horizontal rectus muscles in nystagmus patients. SETTING: Menelik II Hospital, Addis Ababa, ethiopia and the Sinskey Eye Institute, Santa Monica, california. methods: The medial and lateral rectus muscles were extirpated as far back as possible with an enucleation snare in four patients with horizontal nystagmus. A complete eye examination was performed pre- and postoperatively. Using a camcorder, ocular movements were recorded before surgery, and at postop; days 1 and 40, and months 1, 3 and 10. RESULTS: All four patients had a marked reduction in both abnormal and normal horizontal eye movement, and improvement in objective visual acuity. Postoperative residual intermittent fine horizontal movement was recorded in the left eye in a 6 year old and in both eyes of a 41 year old patient. A residual rotary component was recorded in a 15 year-old patient. The 6 and 9 year-old patients each developed a moderate exotropia. The 15 and 41 year-old patients maintained binocular fusion with some residual ability to converge. Vision increased subjectively in all cases. CONCLUSION: Subtotal myectomy of the horizontal muscles in horizontal nystagmus with no null point was very effective in improving and/or eliminating horizontal eye movement. Restoration of normal or near normal appearance and improvement in visual acuity occurred in all cases. None of the patients complained of their loss of horizontal gaze and eye movement. More complete myectomy of the muscles should produce total elimination of both normal and abnormal horizontal eye movement including nystagmus.
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ranking = 1.2266028719492
keywords = exotropia
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5/33. ophthalmoplegia and dissociated nystagmus in adetalipoproteinemia.

    A characteristic pattern of acquired exotropia, progressive paresis of the medial rectus muscles, and dissociated nystagmus on lateral gaze was found in three patients with abetalipoproteinemia. Study with electronystagmography of the eye movements of one patient revealed abnormally slow voluntary saccades and slow or absent fast components of vestibular nystagmus, optokinetic nystagmus, and jerk-type, disassociated nystagmus. Defects in central nervous system centers generating saccadic eye movements are postulated.
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ranking = 1.2266028719492
keywords = exotropia
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6/33. Eight eye muscle surgical treatment in a patient with acquired nystagmus and strabismus: a case report.

    The purpose of this paper is to outline the clinical benefits and electrophysiological changes after extraocular muscle surgery for acquired nystagmus and strabismus in an adult patient. a 41-year-old Caucasian female suffered from oscillopsia, bilateral cranial nerve IV palsies, and vertical nystagmus. Medical therapy was ineffective. She underwent bilateral, eight muscle surgical procedure which included: tenectomies of the superior oblique OU, myectomies of the inferior oblique OU, recessions of the medial rectus muscles OU (with OD on a post-operatively adjustable suture), and differential recessions of the superior rectus muscles OU. This provided marked improvement in her symptoms. These results suggest that surgery for acquired nystagmus can affect an improvement in the characteristics of the nystagmus that result in visual complaints. Combining "nystagmus surgery" plus strabismus surgery may be a viable option in some adult patients with acquired nystagmus who are unresponsive to medical therapy.
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ranking = 6
keywords = strabismus
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7/33. Temporal influences on retinal correspondence: ocular motor findings in paradoxical spatial projection.

    BACKGROUND: Paradoxical diplopia is a condition in which objective eye position contradicts subjective localization in visual space. The term "paradoxical" is usually reserved for instances when known sensory adaptations cannot explain the contradiction. The development of this condition begins with infantile or childhood strabismus, followed by the development of a common sensory adaptation, anomalous retinal correspondence (ARC). ARC causes a reduction in the subjective angle of strabismus compared with the objective angle, and in its completed form the subjective angle decreases to zero. There is no "adaptive" mechanism that would increase the subjective angle such that it would be greater than the objective. In cases of treatment by corrective surgery, the anatomically based motor correction leads to a contradiction between eye position and binocular perception. In this event, the objective angle is less than the subjective, and the result is a paradoxical perception. We encountered a 25-year-old woman who experiences paradoxical localization on cover testing in the absence of a manifest strabismus and with no previous surgical intervention. methods: Using a magnetic search coil technique, we evaluated eye movements during fixation, smooth pursuit, saccades, and during cover test conditions to determine how these eye movements correlated to the subjective perception in space. RESULTS: Although smooth pursuit and saccades were normal, there were two elements during cover test that could explain the paradoxical projection. One was the phenomenon that during the cover test the paradoxical projection appeared only when the eye was covered for >4 s. The second was that there was a regression from the full exophoria position toward the midline while the eye was under cover that correlated with a possible paradoxical projection situation. DISCUSSION: ARC, usually associated with a beneficial sensorimotor adaptation, can express itself as a detrimental sensorimotor manifestation. Paradoxical perception also can exist without previous surgical intervention and without the influence of prisms and instrumentation such as the synoptophore. Further studies are indicated to explore the sensorimotor feedback mechanism between eye position and spatial perception.
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ranking = 3
keywords = strabismus
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8/33. Mietens-Weber syndrome: two new patients and a review.

    In 1966, Mietens and Weber reported four out of six siblings from a consanguineous couple with growth failure, dislocation of the head of the radii, bilateral flexion contracture of the elbows, short ulnae and radii, bilateral corneal opacities, horizontal and rotational nystagmus, strabismus, small, pointed nose and mild to moderate mental retardation. Since then, only three other cases have been reported. We report on two new cases, a pair of female twins aged 9 years. The patients were born after an uneventful, normal pregnancy, to young and non-consanguineous parents. After birth, physical findings included horizontal nystagmus and dislocation of both elbows because of abnormally short radii and ulnae in both twins. Further clinical examinations showed moderate psychomotor delay with marked language compromise. Karyotypes were normal in both girls. A review of the literature reveals that the Mietens-Weber syndrome is an uncommon disorder with a probable autosomal recessive pattern of inheritance. To our best knowledge, including the two cases reported here, only nine cases have been observed so far. The finding of congenital nystagmus and radii dislocation in a patient with mental retardation is probably nonrandom and is highly suggestive of Mietens-Weber syndrome.
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ranking = 1
keywords = strabismus
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9/33. 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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ranking = 1
keywords = strabismus
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10/33. 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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ranking = 1
keywords = strabismus
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