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)

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

A 17-year-old boy had progressive external ophthalmoplegia, normal visual acuity, and a pigmentary retinopathy. Neurologic evaluation showed an abnormal electroencephalogram with diffuse slow (theta) waves. Myasthenia gravis was excluded. Fluorescein angiography showed a normal vascular pattern with diffuse hyper- and hypopigmentation. Results of retinal testing, including color vision, visual fields, electroretinography, and dark adaptometry, were within normal limits except for a slightly subnormal electroretinogram with normal implicit times. Progressive external ophthalmoplegia may be associated with either progressive or non-progressive pigmentary retinopathies, and adequate evaluation of retinal function in these cases must be obtained.
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PMID:Progressive external ophthalmoplegia and benign retinal pigmentation. 125 76

Mitochondrial DNA is a unique, maternally inherited molecule encoding several subunits of the respiratory enzyme chain. In several mitochondrial cytopathies mutations have been described in this genome viz. large-scale heteroplasmic deletions in syndromes with progressive external ophthalmoplegia and point mutations in MELAS and MERRF encephalomyopathies. We here report Southern blot analyses in the cases of CPEO we have seen and describe the search for point mutations in MELAS and MERRF. Mitochondrial genetic sequencing in normal and disease controls as well as in patients has confirmed the pathogenic nature of a tRNA Lys point mutation in MERRF. We propose a novel mitochondrial structural gene mutation in a MELAS--like encephalomyopathy: an A-->G substitution at position 11084 leading to a Thr to Ala replacement in the ND4 subunit of complex I.
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PMID:The molecular genetics of mitochondrial cytopathies: the Melbourne experience. 134 60

Multimodal evoked potentials were studied in 13 patients affected by progressive external ophthalmoplegia with histologically proven mitochondrial myopathy. Progressive external ophthalmoplegia occurred with craniosomatic spreading in all the patients and with a varying degree of nervous and/or other system involvement in most of them. In all but one of the subjects, at least one evoked potential modality was abnormal; 11 of them demonstrated an abnormal visual evoked potential, but this finding might have been influenced by concurrent retinal dysfunction. Abnormalities in brainstem auditory evoked potentials and/or somatosensory evoked potentials, revealing an impairment of central sensory pathways, were detected in 7 subjects, 5 of whom lacked clinical evidence of central nervous system involvement. Thus, evoked potentials represent an useful tool for the detection of subclinical central nervous system involvement in patients affected by progressive external ophthalmoplegia with mitochondrial myopathy.
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PMID:Multimodal evoked potentials in progressive external ophthalmoplegia with mitochondrial myopathy. 195 Apr 47

A 19-year-old man with chronic progressive external ophthalmoplegia with deleted mitochondrial DNA was reported. Neurological examination revealed bilateral external ophthalmoplegia, hearing loss of sensorineural type, short stature, mental retardation, muscle atrophy and weakness in the proximal muscles. Lactate and pyruvate levels were elevated in both serum and cerebrospinal fluid (CSF). Protein concentration was slightly increased in CSF. Electromyogram showed myopathic changes on all the muscles examined. Ragged-red fibers were found in biopsied rectus femoris muscle, stained with modified Gomori trichrome. Scattered cytochrome c oxidase deficient fibers were encountered. The computed tomography of the brain showed mild cerebral and cerebellar atrophy without any abnormal calcification or hypo-lucency. Southern blot analysis of the mitochondrial DNA (mtDNA) extracted from the patient's muscle revealed mixed population of mtDNA, consisting of the normal one and partially deleted one. The size of the deletion was about 4.5-kilobase. The region included the sequences coding for at least four subunits of Complex I, one subunit of Complex IV, two subunits of Complex V and five tRNAs. There may be a "hot area" on the mitochondrial genome that is more prone to be deleted than other regions of mtDNA. Southern blot analysis is usefull for the diagnosis of KSS or CPEO.
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PMID:[Chronic progressive external ophthalmoplegia (CPEO) with deleted mitochondrial DNA]. 259 47

Progressive external ophthalmoplegia is associated with an increasingly heterogeneous group of neuromuscular disorders. We describe a 16-year-old girl with delayed motor milestones and onset of progressive external ophthalmoplegia at age 3 years and proximal muscle weakness at age 10 years. Muscle biopsy specimen demonstrated type I myofiber predominance and type II myofiber atrophy. Although the pathological features of this congenital myopathy are quite nonspecific, the case further illustrates the pathogenetic heterogeneity of the progressive external ophthalmoplegia phenotype.
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PMID:Congenital myopathy with progressive external ophthalmoplegia. 276 83

Clinical, histochemical and ultrastructural findings concerning 14 cases with diagnosis of Chronic Progressive External Ophthalmoplegia are described. According to the clinical features the patients have been rated in two groups: the first including subjects with isolated ptosis or ptosis with external ophthalmoplegia and the second including subjects with a spreading of the muscular deficit and involvement of the neck and limbs. The most frequent histological and histochemical features are type I fibre atrophy, ragged-red fibres, DPNH-diaphorase reaction disorders and abnormal accumulation of lipids into the fibres. Electron microscopy reveal myofibrillar disorganization and clusters of polymorphous, abnormal mitochondria. In five cases mitochondria contain a variety of crystalline inclusions. Correlations between clinical data and histochemical and ultrastructural findings are discussed. Mitochondrial abnormalities are postulated to be a characteristic physiopathological pattern in CPEO.
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PMID:Chronic progressive external ophthalmoplegia. Clinical, electrophysiological, histochemical and ultrastructural studies of 14 cases. 629 31

We studied skeletal muscles from eight chronic progressive external ophthalmoplegia patients with ragged-red fibers (group A), five CPEO patients without ragged-red fibers (group B), and five controls. The EM morphometric fraction of structurally abnormal mitochondria was increased in group A, and there was a similarly increased fraction of normal-appearing mitochondria in group B. State 3 respiration and uncoupled respiration were severely decreased in both groups. The morphometric mitochondrial fraction and respiratory functions were inversely related in all three groups. The cytochrome content in group A was normal; cytochromes b and cc1 were decreased in group B. These studies point to a central role of mitochondrial dysfunction in all types of CPEO, but the basic abnormalities remain to be elucidated.
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PMID:Chronic progressive external ophthalmoplegia (CPEO): clinical, morphologic, and biochemical studies. 630 Jul 33

Five patients with mitochondrial myopathy are discussed. Two presented with progressive external ophthalmoplegia (CPEO), one with CPEO and retinitis pigmentosa, and two with Kearns-Sayre syndrome. Ragged red fibres and intra-mitochondrial paracrystalline inclusions were found in each case. The clinical heterogeneity of the mitochondrial myopathy syndrome in the presence of identical pathological changes in skeletal muscle is emphasised.
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PMID:Clinical features of mitochondrial myopathy. 658 Aug 59

We clinically characterized 18 diabetic patients in 7 families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) and mitochondrial DNA mutations of tRNALEU(UUR) (3243), 5 diabetics in a family with myoclonic epilepsy and ragged red fiber (MERRF) and tRNALYS (8344) mutation and 11 diabetics in a family with chronic external ophthalmoplegia (CPEO) and multiple deletions. Insulin secretory capacities were significantly reduced in the mutant relatives, as compared with the non-mutant members. It is speculated that the mutation-induced OPHOS defects in the pancreatic beta- cells might result in insulin secretory defects.
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PMID:[Clinical characterization of diabetes mellitus in the families with mitochondrial encephalomyopathies]. 752 90


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