Kearns-Sayre syndrome (KSS) belongs to the group of neuromuscular disorders known as mitochondrial encephalomyopathies. It has characteristic syndromal features, which include: chronic progressive external ophthalmoplegia, bilateral atypical pigmentary retinopathy, and cardiac conduction abnormalities. So far, only a single case has been reported where a patient with KSS had a normal retina. Herein, we report this extremely rare variant of KSS, which not only presented later than the normal age of presentation, but also had minimal pigmentary retinopathy.
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| http://dx.doi.org/10.4103/0974-620X.99377 | DOI Listing |
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- The study assessed the link between inherited mitochondrial dysfunction and neuromuscular junction (NMJ) remodeling in patients with mitochondrial disorders, analyzing muscle biopsies from 15 patients and 10 controls.
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