Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns–Sayre syndrome with multiple mtDNA deletions
Article first published online: 3 NOV 2010
© 2010 The Authors. Clinical and Experimental Ophthalmology © 2010 Royal Australian and New Zealand College of Ophthalmologists
Clinical & Experimental Ophthalmology
Volume 38, Issue 8, pages 812–816, November 2010
How to Cite
Ascaso, F. J., Lopez-Gallardo, E., Del Prado, E., Ruiz-Pesini, E. and Montoya, J. (2010), Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns–Sayre syndrome with multiple mtDNA deletions. Clinical & Experimental Ophthalmology, 38: 812–816. doi: 10.1111/j.1442-9071.2010.02335.x
- Issue published online: 3 NOV 2010
- Article first published online: 3 NOV 2010
- Received 19 February 2010; accepted 28 April 2010.
- adult-onset vitelliform macular dystrophy;
- Kearns–Sayre syndrome;
- mitochondrial DNA deletion;
- mitochondrial miopathy
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.