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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

Nine cases of mitochondrial myopathy are presented and the literature is reviewed. The clinical picture ranges from virtually pure ophthalmoplegia, through 'ophthalmoplegia plus' to predominantly central nervous system disturbance. Morphological mitochondrial abnormalities are likely to reflect generalised metabolic abnormalities of diverse aetiology, but producing common pathophysiological consequences. The association of mitochondrial myopathy with CNS disorders, which may ante-date muscle weakness, is emphasised. The myopathies constitute a clinical continuum within which the following syndromes may be delineated: (1) Kearns-Sayre syndrome (2) Luft's disease (3) a variant of Ramsay Hunt syndrome (4) relapsing febrile neurological deficits with headache and seizures. These may be specific diseases or artificially separated manifestations of some common metabolic disorder(s). There is a similarity between the CNS pathology, and also some clinical features, of Leigh's disease and the findings in certain of the mitochondrial myopathies. The review suggests that the following should be regarded as associations of mitochondrial myopathy and progressive external ophthalmoplegia (a) diabetes mellitus (b) cataracts, in which calcium deposits may, like basal ganglia calcification, be due to abnormal calcium metabolism. Diplopia, although unusual, does occur in progressive external ophthalmoplegia with mitochondrial myopathy.
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PMID:The mitochondrial myopathies: 9 case reports and a literature review. 734 99

External ophthalmoplegia, retinal pigmentary degeneration, and heart block constitute the Kearns-Sayre syndrome. Skeletal muscle weakness, deafness, ataxia and endocrine disturbances also may occur. We examined 15 members in two generations of a family with autosomal dominant Kearns-Sayre syndrome. Seven had external ophthalmoplegia, six had electrocardiographic abnormalities, six had limb weakness nad six patients were normal. A deltoid muscle biopsy specimen from one patient contained typical "ragged-red fibers," abnormal lipid accumulation, and mitochondria increased in size and number, containing inclusions. The study demonstrated: (1) the marked variability in genetic expression; (2) the need to examine family members to discover asymptomatic patients and to establish an otherwise unrecognized hereditary pattern; and (3) the absence of specific and consistent biochemical abnormalities.
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PMID:Autosomal dominant Kearns-Sayre syndrome. 738 48

In the few previously autopsied patients with the Kearns-Sayre form of progressive ophthalmoplegia, the most prominent abnormalities have been in muscle, with less conspicuous changes in the central nervous system, primarily in the brainstem. Similar findings were present in the case reported here, but in addition there was severe demyelination in the initial few millimeters of the cranial and spinal motor roots distal to the glial-Schwann cell junction. Milder demyelination was observed in the dorsal spinal and afferent cranial nerve roots, including the eighth nerve, but deafness was due to virtually total destruction of the organ of Corti. Our observations suggest that a radiculopathy may be a feature in some cases of Kearns-Sayre syndrome.
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PMID:Demyelinating radiculopathy in the Kearns-Sayre syndrome: a clinicopathological study. 743 82

A right ventricular endomyocardial biopsy specimen from a 30-year-old male with chromic progressive external ophthalmoplegia, retinal pigmentation and complete atrioventricular block (Kearns-Sayre syndrome) was examined in the electron microscope. There was a proliferation of mitochondria between the myofibrils and beneath the sarcolemma. Many of the mitochondria showed morphologic abnormalities not previously described in this condition. There were associated accumulations of glycogen. A similarly affected female with left anterior hemiblock developed complete atrioventricular block at age 26 years, Despite the ultrastructural changes, clinically detectable myocardial disease is not a feature of Kearns-Sayre syndrome. However, intraventricular conduction defects show an unusually rapid progression to potentially fatal complete atrioventricular block and are an indication for prophylactic cardiac pacing.
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PMID:Myocardial ultrastructure and the development of atrioventricular block in Kearns-Sayre syndrome. 743 96

Mitochondrial DNA (mtDNA) deletions have been found in the majority of patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. A large number of different mtDNA deletions have been identified. They generally spare the two origins of replication and are frequently flanked by direct or indirect repeats. We have found a 3.1-kb deletion of mtDNA in a patient with Kearns-Sayre syndrome that has some unusual features. First, it encompasses nucleotides 11259 to 14368, a localization that was not described before. Second, the deletion is not flanked by direct or indirect repeats, supporting the view that homologous recombination and slip-replication do not account for all mtDNA deletions.
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PMID:3.1-kb deletion of mitochondrial DNA in a patient with Kearns-Sayre syndrome. 748 86

We describe the surgical approach of two patients with myogenic blepharoptosis. The ptosis is caused by a glycogenosis type II (Pompe disease) in the first case and is due to a juvenile, chronic progressive external ophthalmoplegia (Kearns-Sayre syndrome) in the second case. The first patient presented a unilateral ptosis. The ptosis in the second patient was bilateral and manifest. The eyelids could only be opened manually. A resection of the palpebral levator muscle was carried out under local anesthesia. The choice of the technique will be explained. The amount of levator resection was calculated considering the residual eyelid motility and Bell's phenomenon. Electronmicroscopy of the resected levator muscle will be discussed.
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PMID:Surgical treatment of myogenic blepharoptosis. 749 69

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

mtDNA duplications were detectable in 10 of 10 patients with mtDNA deletions and Kearns-Sayre syndrome (KSS) and in none of 8 patients with chronic progressive external ophthalmoplegia (CPEO). Thus, duplications of mtDNA seem to be a distinctive feature of KSS, including patients where Pearson's syndrome is the first manifestation. Diabetes mellitus was identified in 4 of 7 patients with high or moderate levels of mtDNA duplications. The balance of mtDNA rearrangements may be central to the pathogenesis of this unique group of disorders.
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PMID:Duplications of mitochondrial DNA in Kearns-Sayre syndrome. 760 18

The Kearns-Sayre syndrome (KSS) associates progressive external ophthalmoplegia initiating prior to the age of 20 years and pigmentary retinitis with a series of other heterogeneous clinical manifestations. The incomplete syndrome is usually denominated progressive external ophthalmoplegia (PEO)-plus which is a sporadically appearing mitochondrial cytopathy associated with large deletions of a variable proportion of mitochondrial DNA (mtDNA) molecules. Six patients with PEO-plus/KSS in whom muscle biopsy was performed following a complete clinical study are described. The muscle was processed by conventional histochemical techniques, electron microscopy, and genetic study (Southern transference, polymerase chain reaction, restriction cartography and both manual and automatic sequencing). The percentage of mutated mtDNA molecules for each patient was obtained by densitometry. The 6 patients presented multiorganic clinical manifestations characteristics of most mitochondrial diseases. The presence of destructured red fibers were observed in all the biopsies. All the patients presented a deletion in the mtDNA of a size between 4,861 to 7,437 base pairs (bp). All the deletions appeared flanked by direct repetitions from 4 to 13 bp and one also presented inverse repetitions from 5 to 6 bp in the zone next to the rupture point. In the 6 cases heteroplasmia was observed with a variable percentage of deleted molecules from 23 to 56%. The molecular basis of progressive external ophthalmoplegia-plus/Kearns-Sayre syndrome appears to be the existence of sole, large deletions in the mitochondrial DNA with the varying in location and percentage conditioning the appearance of different phenotypes similar among themselves. The 7,437 base pair deletion was the most frequently observed in the patients analyzed.
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PMID:[Progressive external ophthalmoplegia and the Kearns-Sayre syndrome: a clinical and molecular study of 6 cases]. 763 Feb 31


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