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Kearns Sayre Syndrome

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4 papers 0 to 25 followers KSS - Kearns Sayre Syndrome
By V Rey
https://www.readbyqxmd.com/read/25211357/descemet-membrane-endothelial-keratoplasty-in-a-child-with-corneal-endothelial-dysfunction-in-kearns-sayre-syndrome
#1
Johannes Gonnermann, Matthias K J Klamann, Anna-Karina B Maier, Eckart Bertelmann, Jan Schroeter, Katja von Au, Antonia M Joussen, Necip Torun
PURPOSE: To evaluate clinical outcomes and complications after Descemet membrane endothelial keratoplasty (DMEK) in a child. METHODS: A 12-year-old boy with Kearns-Sayre syndrome (chronic progressive external ophthalmoplegia, cardiac conduction block, and pigmentary retinal degeneration) and corneal endothelial dysfunction was successfully treated with DMEK. Corneal transparency, central corneal thickness (CCT), endothelial cell density (ECD), visual outcomes, and complication rates were measured during the follow-up of 6 months...
November 2014: Cornea
https://www.readbyqxmd.com/read/20497429/macular-lesion-resembling-adult-onset-vitelliform-macular-dystrophy-in-kearns-sayre-syndrome-with-multiple-mtdna-deletions
#2
Francisco J Ascaso, Ester Lopez-Gallardo, Eduardo Del Prado, Eduardo Ruiz-Pesini, Julio Montoya
We present the case of a 48-year-old woman with a clinically and histopathologically confirmed Kearns-Sayre syndrome who developed a maculopathy resembling an adult-onset vitelliform macular dystrophy in her right eye. DNA analysis identified the presence of multiple deletions in the mtDNA of the muscle sample, with the common deletion of 4977 bp the most abundant. To the best of our knowledge, there have been no previous reports of such macular lesion occurring in association with Kearns-Sayre syndrome.
November 2010: Clinical & Experimental Ophthalmology
https://www.readbyqxmd.com/read/2849280/skeletal-muscle-pathology-in-chronic-progressive-external-ophthalmoplegia-with-ragged-red-fibers
#3
M Yamamoto, I Nonaka
Histochemical investigations were carried out on skeletal muscle biopsies from ten patients with chronic progressive external ophthalmoplegia with ragged-red fibers (RRF). In addition to the RRF, mild myopathic change consisting of variation in size of both type 1 and 2 fibers was seen in all patients, as well as neuropathic change in eight. Scattered fibers with absent cytochrome c oxidase (CCO) activity (focal deficiency) were seen in all patients. In serial sections, CCO deficiency did not always occupy the entire length of a fiber but was localized segmentally to regions measuring several hundred micrometers in length, suggesting the heterogeneity of CCO activity even in the same fiber...
1988: Acta Neuropathologica
https://www.readbyqxmd.com/read/2597365/chronic-progressive-external-ophthalmoplegia-cpeo-with-ragged-red-fibers-a-case-report
#4
J S Kim, C J Kim, J G Chi, H J Myung
Chronic progressive external ophthalmoplegia (CPEO) is a rare clinical syndrome characterized by slowly progressive paralysis of extraocular muscles. We report a male patient who had a 20 year history of CPEO. Histological examination of left deltoid muscle showed characteristic ragged red fibers. Electron microscopy revealed a number of abnormal mitochondria which contain paracrystalline inclusion bodies.
June 1989: Journal of Korean Medical Science
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