Cases reported "Blepharoptosis"

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1/39. Multiple systemic and periocular malformations associated with the fetal hydantoin syndrome.

    anticonvulsants remain necessary during pregnancy and the removal of such drugs is not recommended. However, on the available evidence, the physician may expect an increased risk of malformation including eye abnormalities as has been outlined. The abnormalities include growth deficiencies and delayed motor/mental development together with dysmorphic features, the most common of which seems to be cleft lip/cleft palate. Additionally, many of these children suffer from eye abnormalities including hypertelorism, ptosis, strabismus, epicanthal folds, and in this case abnormalities of the lacrimal apparatus.
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ranking = 1
keywords = strabismus
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2/39. Ophthalmic features of chromosome deletion 4p- (wolf-hirschhorn syndrome).

    By using the Giemsa banding technique we identified three patients with chromosome deletion 4p-. All had anterior segment anomalies, exotropia, blepharoptosis, antimongoloid palpebral fissures, hypertelorism, and disk abnormalities. One patient (Case 1) had Rieger's anomaly. Some clinical features in patients with 4p- are similar to those in patients with chromosome deletion 5p-, cri-du-chat syndrome, although 4p- individuals do not have the distinctive cry. The ocular features which distinguish 4p- from other deletions include normal tearing, some degree of blepharoptosis, and the preponderance of anterior segment signs.
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ranking = 4.392830406838
keywords = exotropia
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3/39. Ptosis surgery on chronic myasthenia gravis.

    We report three cases of long-standing, early onset myasthenia gravis. The eyes of all three patients eventually became disabled, and the patients were almost unable to move their eyes in any direction. We termed this condition as "frozen eyes" appearance. We discuss the unique clinical condition and follow the electromyographic and neuro-ophthalmological characteristics. The patients all suffered from ptosis, mild to moderate exotropia, and facial and oropharyngeal weakness. All of the patients responded to the neostigmine test positively at the early stage. Two of them were seropositive. The results of electromyography for two of these three cases were abnormal. The average duration of follow-up was 5 years. The treatments included conventional recession and resection procedures with adjustable sutures for strabismus and frontalis suspension for blepharoptosis. The patients achieved stable satisfactory results in over one-and-a-half years of postoperative follow up.
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ranking = 5.392830406838
keywords = exotropia, strabismus
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4/39. 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 = 5.392830406838
keywords = exotropia, strabismus
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5/39. Marcus Gunn jaw winking with trigemino-abducens synkinesis.

    Congenital ocular aberrant innervation syndromes are a complex group of disorders involving abnormal miswiring of the extraocular muscles. This case report describes a child with both a right Marcus Gunn jaw winking phenomenon and a right trigemino-abducens synkinesis, which has not previously been reported in the literature. Clinically, this child presented with an intermittent elevation of the right eyelid and/or an intermittent right exotropia when opening her mouth while sucking or chewing. This case suggests the primary abnormality in this patient may be abnormal development of the trigeminal nerve resulting in the eyelid abnormalities and strabismus.
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ranking = 5.392830406838
keywords = exotropia, strabismus
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6/39. Alternating ptosis after bilateral frontalis muscle suspension for congenital ptosis.

    PURPOSE: To report an unusual response to bilateral frontalis suspension surgery for congenital ptosis. methods: Case report. RESULTS: A 6-year-old child with infantile esotropia and bilateral congenital ptosis received a homologous fascia lata frontalis suspension. After surgery, the patient exhibited an alternating ptosis, caused by alternating unilateral frontalis muscle contraction, which has persisted throughout 3 years of postoperative observation. CONCLUSION: Symmetric frontalis muscle activation may not always occur after bilateral frontalis muscle suspension surgery for congenital ptosis. amblyopia, strabismus, or fixation preference may predispose patients to use unilateral brow elevation, despite bilateral frontalis muscle suspension surgery.
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ranking = 1
keywords = strabismus
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7/39. Sudden development of bilateral cataract in a child with Dubowitz syndrome: a case report.

    The Dubowitz syndrome is a rare, autosomal recessive disorder including intrauterine growth retardation, craniofacial abnormalities, mental retardation and eczematous skin eruption. Ocular problems occur in about 20%: strabismus, blefarophimosis, ptosis, telecanthus and epicanthal folds being the most frequent ones. We present a three years old girl, diagnosed with Dubowitz syndrome, with sudden visual loss due to bilateral cataract.
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ranking = 1
keywords = strabismus
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8/39. Alternating ptosis associated with intermittent exotropia.

    A unique case of alternating, poorly controlled, intermittent strabismus that improved after repair of bilateral, alternating congenital ptosis is described. A 7-year-old boy with bilateral, alternating congenital ptosis and poorly controlled, intermittent exotropia underwent bilateral frontalis suspensions. After surgery, the patient demonstrated improved control of his exotropia. We conclude that an alternating ptosis may lead to sensory deprivation of the occluded eye and decreased fusion, causing an intermittent strabismus to be poorly controlled. Repair of the ptosis to a sufficient eyelid height bilaterally may improve control of the strabismus, obviating strabismus surgery.
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ranking = 30.356982441028
keywords = exotropia, strabismus
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9/39. Congenital fibrosis syndrome associated with central nervous system abnormalities.

    BACKGROUND: Congenital fibrosis of extraocular muscles (CFEOM) is a complex strabismus syndrome that typically occurs in isolation and results from dysfunction of all or part of cranial nerves III (CNIII) and IV (CNIV) and/or the muscles that these nerves innervate. Only a few patients with CFEOM and additional central nervous system malformations have been reported. We describe four additional patients with CFEOM associated with central nervous system (CNS) abnormalities. methods: Four patients who presented with congenital restriction of eye movements in association with neurological abnormalities underwent complete ophthalmological examination including electroretinography (ERG) and eye movement recordings. Neurological examinations, neuroradiological studies, muscle histology, chromosomal and genetic linkage analysis were performed. RESULTS: Clinical examination and forced duction testing confirmed that all four patients met criteria for CFEOM; all had congenital restrictive ophthalmoplegia primarily affecting extraocular muscles innervated by the oculomotor nerve. Two brothers had CFEOM and Marcus Gunn jaw winking. In each of the four cases, CFEOM occurred in association with one or several neuroradiological findings, including agenesis of the corpus callosum, colpocephaly, hypoplasia of the cerebellar vermis, expansion of the ventricular system, pachygyria, encephalocele and/or hydrancephaly. CONCLUSIONS: We present four cases of CFEOM in association with CNS malformations that confirm that CFEOM can be part of a more complex neurological dysfunction and provide further support to a neurogenic aetiology for this disorder. We also describe for the first time the coexistence of CFEOM and Marcus Gunn jaw winking in two siblings. This suggests a genetic mechanism. Aberrant innervation supports primary developmental abnormality of cranial nerves in CFEOM.
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ranking = 1
keywords = strabismus
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10/39. adult-onset acquired oculomotor nerve paresis with cyclic spasms: relationship to ocular neuromyotonia.

    PURPOSE: To describe the characteristics and significance of acquired oculomotor nerve paresis with cyclic spasm. METHOD: Retrospective case series of two patients with a history of previous skull base irradiation for intracranial tumor who developed double vision and were found to have oculomotor nerve paresis with cyclic spasm. Both patients underwent a complete neuroophthalmologic assessment, including testing of eyelid position, pupillary size and reactivity, and ocular motility and alignment during both the paretic and spastic phases of the condition. RESULTS: Both patients developed unilateral lid retraction and ipsilateral esotropia with limitation of abduction during the spastic phase of the cycle, with ipsilateral ptosis, exotropia, and variable limitation of adduction during the paretic phase. The cycles were continuous and were not induced or altered by eccentric gaze. CONCLUSIONS: Cyclic oculomotor nerve paresis with spasms may occur years after irradiation of the skull base. This condition is different from the more common ocular motor disturbance that occurs in this setting-ocular neuromyotonia. However, in view of the similarity between these two disorders, it seems likely that they are caused by a similar peripheral mechanism.
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ranking = 4.392830406838
keywords = exotropia
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