Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The diagnosis of glioma of the chiasm is based on the following factors: occurrence in infancy, association with Von Recklinghausen's disease, progressive and slow loss of vision in both eyes, bilateral optic atrophy, unilateral temporal defect or asymmetrical bitemporal hemianopia, exophthalmos, slow course, omega-deformation of the sella turcica, enlargement of one or both optic foramina, postitive computerized axial tomography. Surgery is contraindicated. Radiotherapy may be applied, but its efficacy is still discussed.
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PMID:[Glioma of the chiasm (author's transl)]. 14 9

A total of 45 patients with craniopharyngioma are reviewed, with particular reference to the presenting clinical features and neuro-ophthalmological findings. Of these 50 per cent had been referred in the first instance to an eye clinic. More than half the children presented with the clinical picture of raised intracranial pressure, although one-third of these had optic atrophy rather than papilloedema. One-third of the children had a history of concomitant strabismus, and only one patient had a paretic squint. The majority of the adults presented with visual failure and optic atrophy. Bitemporal hemianopia was fairly frequently found (27 per cent of our patients at the time of diagnosis) but was asymmetrical and unpredictable in its evolution. Homonymous hemianopia was relatively common, a presenting feature in II per cent of patients in this study. Full fields were found initially in nine patients (20 per cent), a high incidence compared with pituitary adenomas or suprasellar meningiomas. We consider pleomorphism, that is a distinct change from one type of field defect to another with progress of the disease, to be a characteristic feature of the tumour (as indeed are fluctuations in the clinical state and visual acuity); it was detected in 22 per cent of our patients. Endocrine disorders were common, especially in adults, and mental deterioration was a frequent presenting feature in patients over 30 years of age. Straight x rays of the skull are practically diagnostic of craniopharyngioma in children, but in adults a normal x ray does not exclude the diagnosis.
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PMID:Eye signs in craniopharyngioma. 76 25

We present a case of asymmetrical but bilateral, progressive, painless visual deterioration over 5 years to no perception of light, in a 61-year-old male diabetic patient referred for a second opinion. The patient had a chronic history of bilateral diabetic maculopathy and unexplained swelling of the optic discs. He was diagnosed with optic atrophy secondary to pseudotumour cerebri (termed idiopathic intracranial hypertension when underlying causes have been excluded), which was associated with obstructive sleep apnoea. The case highlights the critical importance of identifying and investigating chronic papilloedema for reversible causes; the sometimes subtle presentation of pseudotumour cerebri; and the vital role of visual field testing and diagnostic lumbar puncture for timely diagnosis. It also reminds us that chronic bilateral optic disc swelling is not a normal feature of diabetic eye disease, and that alarm bells should sound if reduced visual acuity seems disproportionate to the degree of maculopathy.
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PMID:Chronic optic disc swelling overlooked in a diabetic patient with a devastating outcome. 2244 51

Optical coherence tomography (OCT) provides a new dimenstion in ophthalmology because it allows evaluation of the pathology in vivo, and provides information to assist the management of macular disease and glaucoma. It is necessary to differentiate the diagnosis of glaucoma from diseases of the optic nerve and of the visual pathway. This study evaluates the usefulness of OCT in detecting disorders of the optic nerve and visual pathway. In addition, the pathogenesis of glaucomatous optic neuropathy (GON), the most common optic neuropathy, was investigated by focusing on the dynamics of aquaporin. I. Evaluation of optic nerve and visual pathway disorders by optical coherence tomography. The swinging flashlight test is an easy, sensitive, objective test to detect relative afferent pupillary defects (RAPD). The number of RAPD detected by the swinging flashlight test was closely correlated with the ratio of retinal nerve fiber layer thickness (RNFLT) between the two eyes of 20 cases of unilateral optic atrophy. OCT could assess the amount of RAPD that reflected an asymmetrical functional disturbance of the optic nerves, as a structural difference. The time courses of RNFLT and ganglion cell complex (GCC) changes' were observed immediately following the time of injury in 4 cases of traumatic optic neuropathy. OCT revealed that both the RNFLT and GCC decreased rapidly from 2 weeks after the injury until 20 weeks later. The RNFLT decreased significantly in the horizontal direction in comparison to the perpendicular direction in 34 eyes from the cases of optic chiasm syndrome. This means that OCT could quantitatively detect the band atrophy of the optic disc in optic chiasm syndrome. Measuring the RNFLT showed a thinning of RNFLT in the perpendicular direction in comparison to the horizontal direction in ipsilateral eyes and thinning in the horizontal direction in comparison to the perpendicular direction in the contralateral eyes in optic tract syndrome. Measuring the GCC showed a thinning of the GCC in the temporal hemifield to the central fovea of the ipsilateral eyes, and thinning of the GCC in the nasal hemifield of the contralateral eyes. This means that OCT could detect the structural changes of hourglass atrophy in the ipsilateral eye and band atrophy in the contralateral eye at the optic disc as well as the homonymous hemianopia in the visual field. OCT was useful in evaluating the optic nerve and visual pathway disorders, but there were also some limitations. The thinning area of RNFLT measured by OPTVue and Cirrus were in entirely opposite directions in cases of optic chasm syndrome. The reason was attributed to the better performance of RTVue in measuring a thin RNFLT on the nasal side of the optic disc in comparison to Cirrus. The specific characteristics of the instruments should be considered when the results of OCT are evaluated. II. Dynamics of aquaporin in the optic nerve Aquaporin (AQP) is a membrane protein that forms a water channel to facilitate water crossing the plasma membrane. AQP-4 was originally thought to be expressed in the optic nerve, but it is expressed only in the retrobulbar medullated region of the optic nerve and the expression of AQPs in the optic disc has not been detected. This study investigated the expressions of AQPs in the optic nerve in rat, monkey and human. The results demonstrate that only AQP-9 was expressed at the unmedullated pre-lamina cribrosa and lamina cribrosa regions, and both AQP-4 and AQP-9 were expressed at the medullated retrobulbar region. Astrocytes were observed to express AQP-9, because AQP-9 immunoreactivity was identical to that of glial fibrillary acidic protein. Elevated intraocular pressure substantially reduced AQP-9 expression in the optic nerve, whereas expression of AQP-4 was not changed in rat eyes. The same phenomena were also observed in the monkey eye with ocular hypertension as well as human eye with glaucoma. AQP-9 is an aquaglyceroporin that allows solutes such as lactate rather than water to cross the cell membrane. The astrocyte-to-neuron lactate shuttle hypothesis has been proposed, in which lactate transported from astrocytes is used by neurons as an energy substrate. Reduction of AQP-9 expression in the optic nerve head under elevated intraocular pressures might be closely related to the pathogenesis of GON.
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PMID:[New insights into the study of optic nerve diseases]. 2363 Dec 54

The characteristic features of Madras motor neuron disease (MMND) are onset in the young in the first two decades, sporadic occurrence, facial and bulbar paralysis, sensorineural hearing impairment, asymmetrical weakness of limbs and pyramidal signs with a slow progression. The majority of the cases reported are from South India. MMND variant has the additional features of optic atrophy and cerebellar signs. We are reporting a 48 year old female of MMND who had persistent fasciculations of chin, with electromyographic features of fasciculations and fibrillations in mentalis muscle. Chin fasciculations, a rare clinical feature, is now described for the first time in Madras motor neuron disease adding a new feature to the clinical constellation of symptoms.
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PMID:Chin fasciculations in Madras motor neuron disease: a new clinical feature. 2444 36