Results 191 to 200 of about 9,186 (248)

Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant

Journal of Neuromuscular Diseases, 2020
We describe a patient with chronic progressive external ophthalmoplegia (CPEO) due to a rare mitochondrial genetic variant. Muscle biopsy revealed numerous cytochrome c oxidase (COX)-deficient fibres, prompting sequencing of the entire mitochondrial ...
L. O'Donnell, E. Blakely, K. Baty, M. Alexander, P. Bogdanova-Mihaylova, J. Craig, R. Walsh, F. Brett, Robert W. Taylor, S. Murphy   +9 more
semanticscholar   +1 more source

Severe Chronic Progressive External Ophthalmoplegia-Associated Ptosis Successfully Treated With Scleral Lenses.

Journal of neuro-ophthalmology, 2020
C hronic progressive external ophthalmoplegia (CPEO) is a progressive neuromyopathic disorder marked by bilateral weakness of the levator and extraocular muscles, resulting in blepharoptosis and impaired ocular motility (1,2).
Christina Cherny, Suzanne W. Sherman, Lora R. Dagi Glass   +2 more
semanticscholar   +1 more source

Update on Chronic Progressive External Ophthalmoplegia

Strabismus, 2005
Mitochondrial encephalomyopathies are clinically and genetically heterogeneous disorders. External ophthalmoplegia is the most frequent symptom. Other frequently involved tissues and organs include the retina, heart, limb muscles, peripheral and central nervous system, inner ear and endocrine system.
Viktoria, Bau, Stephan, Zierz
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Chronic Progressive External Ophthalmoplegia

American Orthoptic Journal, 2005
IntroductionCredit for the first description in the literature regarding chronic progressive external ophthalmoplegia is generally attributed to von Graefe in 1868. Chronic progressive external ophthalmoplegia (CPEO) is a disorder that leads to complete immobility of the eyes.
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Chronic progressive external ophthalmoplegia.

Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 1998
Two cases of chronic progressive external ophthalmoplegia were described. Both of them presented with progressive bilateral ptosis and gradual impairment of ocular mobility. One of the patients had abnormal cerebrospinal fluid protein level. Another patient had muscle biopsy which was compatible with mitochondrial myopathy.
K, Phanthumchinda, S, Sinswaiwong, S, Jonpiputvanich   +2 more
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Sleep disturbances in chronic progressive external ophthalmoplegia

European Journal of Neurology, 2011
Background:  Chronic progressive external ophthalmoplegia (CPEO) is a relatively common mitochondrial disorder. In addition to extraocular muscle weakness, various other organs can typically be affected, including laryngeal and limb muscles, cerebrum, cerebellum, and peripheral nerves. Given this multi‐organ involvement, patients are likely to be prone
Smits, B.W., Westeneng, H.J., Hal, M.A. van, Engelen, B.G.M. van, Overeem, S.   +4 more
openaire   +3 more sources

Cardiac involvement in chronic progressive external ophthalmoplegia

Journal of the Neurological Sciences, 2014
Myocardial involvement has not been extensively investigated in mitochondrial myopathies. The aim of the study was to assess the myocardial morpho-functional changes in patients with chronic progressive external ophthalmoplegia (PEO). Twenty patients with PEO and 20 controls underwent standard echocardiography with tissue Doppler imaging (TDI) and ...
GALETTA, FABIO, FRANZONI, FERDINANDO, MANCUSO, MICHELANGELO, ORSUCCI, DANIELE, TOCCHINI, LEONARDO, Papi, Riccardo, Speziale, Giuseppe, Gaudio, Carlo, SICILIANO, GABRIELE, SANTORO, GINO   +9 more
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Intracranial hypotension mimicking chronic progressive external ophthalmoplegia

Orbit, 2018
Intracranial hypotension (ICH) is characterized by low cerebrospinal fluid pressure, postural headaches, and diffuse pachymeningeal enhancement on magnetic resonance imaging (MRI). A variety of ophthalmoparetic manifestations have been reported in the context of the ICH.
Kaveh Vahdani, Katherine McVeigh, Rhys Harrison, Mandy Williams, Helen Garrott   +4 more
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Chronic Progressive External Ophthalmoplegia

A.M.A. Archives of Ophthalmology, 1959
In recent years several investigators have described the histologic findings made in the external eye muscles in biopsies or necropsies in cases of chronic progressive external ophthalmoplegia. 2,4,7,8,12,13 The authors cited agree that the changes are of the type usually seen in skeletal muscles in progressive muscular dystrophy, and they are of the ...
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Chronic Progressive External Ophthalmoplegia

2014
Progressive external ophthalmoplegia (PEO) may originate from a variety of neurological disorders. In 1988, Zeviani et al. clarified that large-scale rearrangements of mitochondrial DNA (mtDNA) occur in sporadic cases. Deletions are mainly confined to a region of mtDNA (Table 71.1). The three main clinical syndromes caused by a large-scale deletion are
openaire   +1 more source