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)

A 25-year old grossly obese woman presented with decreased visual acuity. She had bilateral total (internal and external) ophthalmoplegia, a left-sided seventh cranial nerve palsy, and florid bilateral papilledema. The diagnosis of pseudotumor cerebri was made on the basis of high cerebrospinal fluid pressure and the absence of other abnormalities on systemic, neurologic, and neuroradiologic examination. The patient responded favorably to corticosteroid treatment; however, bilateral optic atrophy occurred with persistent loss of visual field and acuity.
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PMID:An unusual presentation of pseudotumor cerebri. 55 36

Report of a case of chronic progressive external ophthalmoplegia combined with retinitis pigmentosa, optic atrophy, marked attenuation of the retinal vessels, maculopathy, and complicated cataract. Visual fields and acuity were severely impaired. The ophthalmoplegia was histologically identified as ocular myopathy. In a review of 181 cases with CPEO the disease was found to be associated with retinitis pigmentosa in 7 per cent and with atypical pigmentary retinopathy in 36 per cent of the cases. A distinction of these two types of retinal dystrophy is justified by the clinical features and may indicate different hereditary patterns.
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PMID:[Typical retinitis pigmentosa with chronic progressive external ophthalmoplegia (author's transl)]. 108 Sep 66

Of 315 cases (629 eyes) of surgically confirmed pituitary adenoma, 487 eyes (77.4%) suffered diminished visual acuity, 393 eyes (62.5%) primary optic atrophy and 500 eyes (79.5%) visual field defects. Ophthalmoplegia and papilledema were also observed. The ocular changes and visual prognosis were discussed.
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PMID:[Ocular findings in pituitary adenoma]. 133 89

We have recently identified a point mutation in the mitochondrially encoded tRNA(Leu(UUR)) gene which associates with a combination of type II diabetes mellitus and sensorineural hearing loss in a large pedigree. To extend this finding to other syndromes which exhibit a combination of diabetes mellitus and hearing loss we have sequenced all mitochondrial tRNA genes from two patients with the Wolfram syndrome, a rare congenital disease characterized by diabetes mellitus, deafness, diabetes insipidus and optic atrophy. In each patient, a single different mutation was identified. One is an A to G transition mutation at np 12,308 in tRNA(Leu(CUN)) gene in a region which is highly conserved between species during evolution. This mutation has been described by Lauber et al. (1) as associating with chronic progressive external ophthalmoplegia (CPEO). The other is a C to T transition mutation at np 15,904 in tRNA(Thr) gene. Both mutations are also present in the general population (frequency tRNA(Leu(CUN)) mutation 0.16, tRNA(Thr) mutation 0.015). These findings suggest that evolutionarily conserved regions in mitochondrial tRNA genes can exhibit a significant polymorphism in humans, and that the mutation at np 12,308 in the tRNA(Leu(CUN)) gene is unlikely to be associated with CPEO and Wolfram syndrome.
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PMID:Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia. 154 64

The authors report on one case of Wolfram syndrome, a rare condition, which is characterized by juvenile onset diabetes mellitus, diabetes insipidus, optic atrophy and sensorineural deafness. The findings of this 13-year follow-up show that this patient developed typical neurological complications of long-standing diabetes mellitus as in the common type 1 variant. Moreover, some peculiar signs occurred such as anosmia, ophthalmoplegia interna, and central nystagmus. Since Wolfram syndrome is probably part of a more generalized neurodegenerative disorder, long-term prognosis will depend both upon the severity of chronic diabetic complications and upon the rapidity, by which degeneration of cerebellar, pontine and brain stem structures appear. Prognosis of the cardinal clinical signs is such that optic atrophy, though usually quite rapid in the beginning, generally does not lead to complete blindness. Sensorineural hearing loss progresses very slowly so that deafness might be expected exceptionally only. The hearing deficit in classical diabetics, however, is of retrocochlear origin. Therefore, in Wolfram syndrome, a combined inner-ear and retrocochlear hearing loss may occur.
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PMID:Juvenile onset diabetes mellitus, central diabetes insipidus and optic atrophy (Wolfram syndrome)--neurological findings and prognostic implications. 185 94

Maple Syrup Urine Disease is an autosomal recessive disorder of branched chain amino acid metabolism with an incidence in Ireland of one in 140,154 births. Ocular complications in untreated or late diagnosed patients includes optic atrophy, grey optic papilla, nystagmus, ophthalmoplegia, strabismus and cortical blindness. Seven patients with maple syrup urine disease were studied. All were diagnosed with the aid of newborn screening and commenced on early dietary treatment (mean age at diet introduction = 5 days). All remain physically well, with average intellectual performance, three having minor neurological defects and one strabismus. Early diagnosis, proper therapy and subsequent vigilant management may reduce substantially the risks of ophthalmic complications in this rare disease.
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PMID:Ophthalmic findings in maple syrup urine disease. 192 19

Meningoencephalitic syndrome can be caused by many infective agents. Over a period of 13 years, 15 of 170 cases of neurocysticercosis (NCC) presented as meningoencephalitis. The basis of diagnosis of NCC was positive subcutaneous nodule histopathology (4), CT scan (9) and autopsy (3) findings. The age of the patients ranged from 7-68 years (mean 32). Fever was encountered in 12, altered sensorium in 7, seizures in 10 and abnormal behaviour in 3 cases. All cases had papilloedema. Focal neurological signs included optic atrophy, lateral rectus palsy, hemiplegia, internuclear ophthalmoplegia and cerebellar ataxia. Cerebrospinal fluid was abnormal in 8 of 13 cases, leading to a suspicion of tuberculous meningitis. Twelve patients improved with therapy. Three cases ended fatally and autopsy confirmed the diagnosis.
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PMID:Cysticercal meningoencephalitis. 193 70

Juvenile nasopharyngeal angiofibroma (JNA) is the most common benign neoplasm of the nasopharynx. While histologically benign, it has the propensity for aggressive local growth. This highly vascular tumor predominantly occurs in adolescent males. The literature fails to provide a thorough description of ocular complications and their incidence in JNA. This report summarizes the data from those clinical series detailing ocular findings in a total of 218 JNA cases. Exophthalmos was found in 14% of all cases. Decreased visual acuity and partial ophthalmoplegia occurred in 5% and 2% respectively. Recognition of ocular involvement in JNA is of the utmost importance, for it is often a manifestation of orbital or intracranial extension or both. We describe the diagnosis and management of a case of JNA in a five-year-old white male. The patient developed ocular findings of marked exophthalmos and optic atrophy. Early multidisciplinary diagnostic evaluation (otolaryngological, neurosurgical, and ophthalmological) followed by a team surgical approach to excision is most likely to yield efficacious results.
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PMID:Ocular findings in juvenile nasopharyngeal angiofibroma. 302 20

We report here two cases in a family with pleomorphic clinical features which include mitochondrial myopathy, encephalopathy, stroke-like episodes, episodic disturbances of consciousness and other multisystemic abnormalities. The other signs observed in multisystemic abnormalities were ophthalmoplegia, short stature, diabetes mellitus, diabetes insipidus, renal dysfunction, optic atrophy, retinal degeneration, impairment of hearing and mental retardation or deterioration. A symptomatological variation was observed in cases in the same family. It is suggested that these widely varying symptoms may be expressions caused by a common biochemical defect which involves different tissues in different individuals in the family. The syndromes observed in the present cases were compared with other possibly-related mitochondrial encephalomyopathies.
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PMID:Familial mitochondrial encephalomyopathy with stroke-like episodes and episodic disturbances of consciousness: a study of pedigree including three generations with multisystemic abnormalities. 362 95

Two patients (two men, 56 and 59 years old) had sphenoid sinus mucocele originating in the anterior clinoid process. In one case the mucocele initially mimicked diabetic ophthalmoplegia with pupil-sparing palsy of the oculomotor (third) nerve. After resolution of the palsy, severe visual loss developed with minimal recovery of vision after surgery. The second patient had recurrent episodes of retrobulbar optic neuropathy with optic atrophy and decreased vision. Visual loss from sphenoid sinus mucoceles is usually associated with a poor prognosis if surgical treatment is delayed more than seven to ten days.
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PMID:Sphenoid sinus mucocele (anterior clinoid variant) mimicking diabetic ophthalmoplegia and retrobulbar neuritis. 372 9


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