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Keywords:

  • adult-onset vitelliform macular dystrophy;
  • Kearns–Sayre syndrome;
  • maculopathy;
  • mitochondrial DNA deletion;
  • mitochondrial miopathy

Abstract

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.