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

Clinical, electromyographic, histochemical and ultrastructural features are described in a case of Chronic Progressive Ophthalmoplegia. The neurogenic-myogenic aspects of the diseases are discussed bearing in mind both electromyographic and histological findings ("red ragged fibres" etc.). Mitochondrial paracrystalline inclusions were found at the level of the ocular muscles as well as in the skeletal muscles. These inclusione suggest that Ocular Myopathy is a form of systemic myopathy secondary to mitochondrial abnormalities.
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PMID:[A case of mitochondrial myopathy with progressive chronic ophthalmoplegia (author's transl)]. 75 50

The extraocular muscles of two middle-aged men with ophthalmoplegia secondary to myotonic dystrophy were studied by electron microscopy. The main change was disorganization in the arrangement of myofibrils rather than degeneration of the cells. Diseased muscle cells contained randomly distributed, short and irregular myofibrils and individual myofilaments. The cytologic appearance of these muscle cells was similar to that of developing muscle cells. The pathogenesis of the myopathy in myotonic dystrophy may be related to myofibrillogenesis and its maintenance.
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PMID:Electron microscopic study of extraocular muscles in myotonic dystrophy. 94 84

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

To characterize muscle pathology in 3 cases affected by ocular myopathy with eyelid ptosis and upper facial weakness, but without ophthalmoplegia, light microscopy and ultrastructural study were performed on levator palpebrae, orbicularis oculi and deltoid muscle biopsies. While levator palpebrae proved uninformative because of the massive fibrous degeneration of muscle, orbicularis oculi biopsies showed histochemical and ultrastructural alterations indicating a mitochondrial involvement, resembling that reported in ocular mitochondrial myopathies (OMM). On the other hand very mild aspecific findings were observed in deltoid. We suggest that these cases with ocular myopathy and without ophthalmoplegia should be considered a partial or initial form of OMM.
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PMID:Ocular myopathy without ophthalmoplegia can be a form of mitochondrial myopathy. 132 11

In the past few years several syndromes have been associated with lesions of the human mitochondrial DNA. MtDNA is a small, circular extra-nuclear chromosome encoding essential components of the respiratory chain. MtDNA-related syndromes can be divided into two groups: mitochondrial encephalomyopathies, characterized by the presence of ragged-red fibres (RRF) as the morphological hallmark, or "pure" encephalopathies with no gross morphological abnormalities in muscle. The first group includes myoclonic epilepsy with ragged-red fibres (MERRF), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), Kearns-Sayre syndrome (KSS), chronic progressive external ophthalmoplegia (CPEO) and a new entity, maternally inherited myopathy and cardiomyopathy. The second group includes Leber's Hereditary Optic Neuroretinopathy (LHON) and the newly described ataxia-retinitis pigmentosa-dementia complex. Three kinds of molecular lesions have been identified: point mutations of protein encoding mtDNA-genes (similar to yeast mit- mutations); point mutations of mtDNA-tRNA genes (similar to yeast syn- mutations); and large-scale rearrangements of mtDNA (similar to yeast rho- mutations). In general, "mit-" mutations are responsible for non-RRF encephalopathies, while "syn-" and "rho-" mutations are associated with mitochondrial encephalomyopathies with RRF. Furthermore, point mutations (mit- and syn-) are usually maternally- inherited, while large-scale mtDNA rearrangements are either sporadic or inherited as mendelian traits. In most cases, the molecular detection of the known defects of mtDNA can be carried out by non-invasive techniques, thus making it an easy and relatively inexpensive procedure in the differential diagnosis of the mitochondrial disorders, a rapidly expanding area of clinical neurology.
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PMID:Defects of mitochondrial DNA. 134 53

With the discovery of mitochondrial DNA (mtDNA) mutations in different neuromuscular disorders, investigations now seek to clarify how the mutant mtDNA induces biochemical and morphologic defects. In one of the most important approaches human mutant mtDNA is transferred into cells that lack mtDNA to examine the relationship between the amount of mutant mtDNA and defects in cell growth, respiration and enzyme activities. The resulting cells are 'cybrids'; these clonal cells contain the heteroplasmic mutant and normal mtDNA from patients with mitochondrial diseases. The mitochondria become functionally defective when the amount of mutant mtDNA exceeds a certain threshold, which differs from mutation to mutation: 60 to 70% in chronic progressive external ophthalmoplegia (CPEO) and probably 95% in the syndromes of mitochondrial encephalopathy, myopathy, lactic acidosis, and stroke-like episodes (MELAS), and myoclonic epilepsy with ragged red fibers (MERRF). This threshold effect may explain the tissue-specific patterns of clinical expression.
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PMID:Mitochondrial diseases. 139 36

Myoclonus epilepsy with ragged-red fibers (MERRF) has been shown to be associated with a specific point mutation at the nucleotide 8344 in the tRNA(Lys) gene of mitochondrial DNA (mtDNA). We screened 6 patients with clinically diagnosed MERRF and 1 patient with ocular myopathy for point mutations in the tRNA(Lys) gene, using single strand conformation polymorphism (SSCP) analysis, which can detect even a 1-basepair difference between 2 DNA sequences. Using SSCP and consequent DNA sequencing, we identified the known MERRF mutation in 4 out of 6 MERRF patients, as well as in 1 patient with a new clinical phenotype associated with this mutation: progressive external ophthalmoplegia, muscle weakness and a lipoma, but no myoclonus or epilepsy. Two of the patients with clinical MERRF had neither the MERRF-mutation nor any other mutations in the tRNA(Lys) gene. Using SSCP analysis, we also detected a new polymorphism in 1 patient. Thus, SSCP analysis can be applied to search effectively and rapidly for point mutations or polymorphisms in mitochondrial DNA.
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PMID:Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA. 143 90

As a special lecture at the 96th Annual Congress of the Japanese Ophthalmological Society in 1992, we presented experimental and clinical studies on eye movement using magnetic resonance imaging (MRI). MRI is more valuable than X-ray CT in defining external muscle anatomy in the orbit in a variety of pathological changes, and is free from the danger of radiation. Cine mode MRI, which was originally developed to observe cardiovascular function, was utilized experimentally for observation of eye movement. We invented two methods to produce a series of photographs. In the first method, "the moving eye method", the subjects were asked to perform 256 or 512 vertical and horizontal eye movements in synchronization with a sound trigger. In the second, "the fixed eye method", the subjects were asked to gaze at individual points in a 5 to 7 point sequence as indicated by the investigator. In both methods MRI data was generated and the resulting series of photographs were observed in cine mode on a television monitor. Displaying the MRI generated photographs in cine mode enables direct observation of the movement of the eye, optic nerve and extraocular muscles within the orbit. The moving eye method was more accurate in its portrayal of the actual movement of the eye, but the large number of eye movements, at least 256 movements, required about 5 minutes, and caused physical and mental fatigue for the subjects. The fixed eye method did not show actual movement of the eye, but was less fatiguing than the former method, and avoided several of its problems. A large number of ophthalmoplegia cases such as abducens palsy, oculomotor palsy, fracture of the orbital wall, foreign bodies in the orbit, Duane's syndrome, endocrine myopathy, esotropia, exotropia, etc., were examined using the fixed eye method of cine mode MRI. Using this technique, anatomical changes, such as atrophy or hypertrophy and the functional state demonstrated by the contraction and relaxation of the extraocular muscles could be investigated. Transposition of the extraocular muscles, an effective treatment for paralytic squint, was reexamined and a new surgical procedure was developed for abducens palsy. The measurement of the length, thickness and weight of the extraocular muscles from the MRI-generated photographs allowed for more accurate analysis. The three dimensional reconstructive method of MRI is very valuable for diagnosis in the orbit and is expected to contribute to future progress.
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PMID:[Eye movement: experimental and clinical study using cine mode MRI]. 148 71

Multiple deletions of mitochondrial DNA (mtDNA) have recently been reported in familial progressive external ophthalmoplegia (PEO), in a case of progressive encephalomyopathy, and in inherited recurrent myoglobinuria. The inheritance of familial PEO has been autosomal dominant, which indicates that a mutation in an unknown nuclear gene results in several mtDNA deletions of different sizes in these patients. We report a patient with autosomal dominant PEO, whose major clinical symptom, however, was severe retarded depression. The morphological analyses of the tissue samples derived from autopsy showed various abnormalities in the mitochondria in all the tissues studied. The activities of the respiratory chain enzymes encoded by mtDNA were remarkably reduced in the skeletal muscle. The mtDNA analyses confirmed that besides myopathy, this patient had a multisystem disorder with widespread distribution of multiple deletions of mtDNA. The highest percentage of mutated mtDNA was found in the brain, skeletal muscle and the heart, the relative quantity of mutated mtDNA correlating to the severity of the clinical symptoms.
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PMID:Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. 163 20

We describe a 53-year-old patient with a progressive mitochondrial myopathy of late-onset, restricted to skeletal muscle only without external ophthalmoplegia. The myopathy developed at the age of 46 years initially with exercise intolerance and subsequently progressive permanent muscle weakness. Muscle biopsy revealed severe myopathic changes, ragged red fibers, and a marked multifocal cytochrome-c-oxidase deficiency. Biochemical analysis showed a deficiency of complexes I and IV of the mitochondrial respiratory chain. Genetic analysis of mitochondrial DNA revealed no deletions. Mitochondrial myopathies restricted to skeletal muscle have to be considered in the differential diagnosis of late-onset progressive myopathies.
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PMID:[Delayed manifestation of mitochondrial myopathy--complex I and IV deficiency of the mitochondrial respiratory chain with progressive paresis]. 165 69


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