This is a case of a 17-year-old girl who presented with gradual onset ptosis, external ophthalmoplegia and pigmentary retinopathy. She was diagnosed with Kearns-Sayre Syndrome (KSS), a mitochondrial disorder, which is defined by the triad: onset before 20 years of age, progressive external ophthalmoplegia and pigmentary retinopathy. It was caused by a single mitochondrial DNA deletion.
KeywordsKearns-Sayre Syndrome Progressive external ophthalmoplegia Mitochondrial DNA deletion
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