학술논문
Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions Ascaso et al. Maculopathy in Kearns-Sayre syndrome.
Document Type
Article
Author
Source
Subject
*CASE studies
*MITOCHONDRIAL DNA abnormalities
*RETINAL degeneration
*UBIQUINONES
MUSCULAR dystrophy genetics
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Language
ISSN
1442-6404
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. [ABSTRACT FROM AUTHOR]