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)

The clinical features of 66 patients with histologically defined mitochondrial myopathy are described. The age of onset of symptoms ranged from birth to 68 years, but was before 20 years in 61%. Nineteen patients had similarly affected relatives. Three groups of cases could be identified clinically: a combination of progressive external ophthalmoplegia and weakness of the limbs induced or increased by exertion (55%); such limb weakness alone (18%); and those with clinical features, such as ataxia, dementia, deafness, involuntary movements and seizures, predominantly or exclusively arising from the CNS (27%). There was considerable overlap between these groups, and pigmentary retinopathy, present in 36% of patients, occurred in all three. At a mean disease duration of twenty years, 9 patients (all from Group 3) were severely disabled but 42 were still able to work. In vitro studies of mitochondrial metabolism, performed in 33 cases, most commonly showed deficiencies of the mitochondrial respiratory chain localized to complex I (18 patients) or complex III (9). No typical clinical picture emerged for any of the identifiable biochemical defects.
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PMID:The clinical features of mitochondrial myopathy. 377 73

Six out of 17 patients with progressive external ophthalmoplegia (EPO) were found to have pigment anomalies with alterations in the electroretinographical (ERG) tracings. However, fluorangiography demonstrated alterations of the retinal pigment epithelium in patients with normal fundus and ERG examinations. We conclude that in our series there was no correlation between retinopathy and tapetoretinal degeneration.
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PMID:Correlation of ERG and pigment epithelium changes in external progressive ophthalmoplegia (EPO). 406 82

Eleven patients suffering from chronic progressive external ophthalmoplegia (CPEO) were investigated by means of electroretinograms (ERG) and visually evoked cortical potentials (VECP) to flash and checkerboard-reversal stimuli. One patient exhibited a Kearns syndrome, in two patients fundoscopy revealed pigmentary retinopathy, and the other eight patients had normal fundi. In the three patients with pigmentary retinopathy the ERGs were slightly disturbed or normal, the P100-latencies in the VECPs being normal. Three out of eight patients without pigmentary changes had reduced ERGs indicating unsuspected retinopathy. This nonpigmentary retinopathy was only detected by means of ERG and may be the electrophysiological correlate of a reduced visual acuity. One patient had a considerably prolonged P100-latency in the pattern-reversal VECP of one eye, which may indicate lesions of the visual pathway along with CPEO.
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PMID:ERG and VECP in chronic progressive external ophthalmoplegia (CPEO). 406 83

Eleven patients suffering from chronic progressive external ophthalmoplegia (CPEO) were examined by means of electroretinography (ERG) and the visually evoked cortical potential (VECP) with flash and checkerboard-reversal stimuli. One patient exhibited a Kearns-Sayre syndrome, and in two patients fundoscopy revealed pigmentary retinopathy; the fundi of the other 8 patients were normal. In 3 of the patients with pigmentary retinopathy the ERG was slightly disturbed or normal, the P100 latency in the VECP being normal. In three out of 8 patients without retinal pigmentary changes the ERG indicated retinopathy. In 2 cases this was the only finding offering an explanation for the reduced visual acuity. One patient exhibited a considerably prolonged P100 latency in the pattern-reversal VECP of one eye, which might have been indicative of lesions of the visual pathway associated with CPEO.
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PMID:[ERG and VECP in chronic progressive external ophthalmoplegia]. 648 92

The overall prevalences of microvascular complications and their association with dietary, clinical, and metabolic characteristics have been studied in 503 Mexican type II diabetic subjects. Average daily dietary intakes were 1866 kcal, 46.5% as carbohydrate, 13.7 mmol cholesterol, 8.7 g fiber, and a polyunsaturated/saturated fat ratio of 0.98. Prevalence rates of microvascular and metabolic complications were as follows: background retinopathy 12.3%, exudative retinopathy 24.2%, proliferative retinopathy 8.1% (1% blind, 4% able to read large print only), 9.1% of patients had cataract, 15.9% nephropathy, and 40.8% peripheral neuropathy. In addition, 3.6% had experienced transient lower motor neuron facial paralysis and 0.2% oculomotor paralysis. Patients with retinopathy had a longer mean duration of diabetes, were less obese at the time of examination, and had higher initial and mean blood pressures and higher mean fasting blood glucose levels when compared with those without retinopathy. Similar differences were observed between groups with and without nephropathy except that mean blood glucose levels were similar in the two groups. The presence of peripheral neuropathy was associated with longer duration of diabetes, less obesity, higher mean blood pressure and mean blood glucose levels, and lower hemoglobin concentration. Patients treated with diet alone had significantly lower prevalences of all three microvascular complications but they also had significantly shorter duration of diabetes and lower mean blood glucose levels. However, multivariate analyses on the subgroup of 360 patients who had repeated fasting blood glucose measurements for at least 5 yr demonstrated associations between retinopathy and duration of diabetes, mean blood pressure and mean blood glucose, and percent calories from carbohydrate.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Association of differing dietary, metabolic, and clinical risk factors with microvascular complications of diabetes: a prevalence study of 503 Mexican type II diabetic subjects. II. 649 36

Kearns-Sayre syndrome was diagnosed in a 40-year-old female patient admitted for evaluation of symptomatic bradycardia. In addition to the classic triad--external ophthalmoplegia, pigmentary retinopathy, and heart block--she also had secondary amenorrhea, hearing loss, diabetes, and increased concentrations of blood lactate and pyruvate as manifestations of this multisystem disease. The echocardiographic examination disclosed asymmetric septal hypertrophy with a septal diastolic thickness of 17 mm and a septum to free wall ratio of 1.5. The left ventricular size and function were normal. Thus, asymmetric septal hypertrophy may represent subclinical heart muscle involvement in Kearns-Sayre syndrome.
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PMID:Asymmetric septal hypertrophy in Kearns-Sayre syndrome. 654 86

In 1958, Kearns and Sayre described a syndrome characterized by external ophthalmoplegia, pigmentary retinopathy and cardiac conduction disorders. Subsequent publications have reported the presence of morphologic anomalies of muscle mitochondria and a spongiform encephalopathy. The study of folate metabolism in the present case demonstrated a marked drop in cerebrospinal fluid folate levels contrasting with normal plasma levels. The origin of this anomaly could be a disturbance in the active transport system of 5-methyl tetrahydrofolate (5 CH3 THF) in the choroidal plexuses. This compound is involved in brain metabolism at different levels: synthesis of purine and pyrimidine bases, serotonin metabolism, synthesis and methylation of membrane phospholipids. Therefore a deficit in brain 5 CH3 THF levels could be implicated in the pathophysiology of the spongiform encephalopathy. In the current state of knowledge a relation between folate transfer disorders and mitochondrial anomalies is difficult to establish.
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PMID:[Disorders of folate metabolism in the Kearns-Sayre syndrome]. 667 79

The retinopathy of ophthalmoplegia plus (Kearns syndrome) is characterised by an extreme variability and a relative mildness of the visual disturbances, contrasting with the gravity of the ophthalmoscopic lesions. A study of three new cases, as well as an analysis of the literature, tend to demonstrate that the retinal lesions are mainly localised in the pigment-epithelial cells (mitochondrial anomalies?). This peculiar pathogenesis could explain why the retinopathy in this syndrome differs from classical pigmentary retinopathy.
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PMID:[The retinopathy of ophthalmoplegia plus (Kearn's syndrome)]. 715 64

Two postmortem eyes from a 52-year-old man with Kearns-Sayre syndrome were examined by light, scanning, and transmission electron microscopy. Prior to death, pronounced ptosis, total external ophthalmoplegia, an episodic ventricular cardiac arrhythmia, and an atypical pigmentary retinopathy characterized by "choroidal sclerosis" and pigment clumping were documented. Histopathologic examination revealed atrophy of the retinal pigment epithelium and outer retina that was most marked posteriorly. The preservation of photoreceptors appeared to mirror the health of the underlying retinal pigment epithelium. Numerous healthy appearing rods were present in the relatively well-preserved temporal retina. The pattern of photoreceptor degeneration observed in this form of "atypical retinitis pigmentosa" suggests that the primary defect may reside in the retinal pigment epithelium.
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PMID:The atypical pigmentary retinopathy of Kearns-Sayre syndrome. A light and electron microscopic study. 716 86

Kearns-Sayre syndrome is the triad of progressive external ophthalmoplegia, pigmentary retinopathy, and complete AV block. The etiology is unknown, but is thought to be due to a mitochondrial DNA deletion. Reported electrocardiographic abnormalities include first-degree AV block, fascicular blocks, and complete heart block, as well as non-specific S-T segment changes and T wave abnormalities, but has not included sinus node dysfunction. We report a case with episodes of sinus arrest in an asymptomatic patient with Kearns-Sayre syndrome resulting in pauses lasting up to 6 seconds.
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PMID:Sinus dysrhythmia in Kearns-Sayre syndrome. 751 37


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