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Macular lesion resembling adult‐onset vitelliform macular dystrophy in Kearns–Sayre syndrome with multiple mtDNA deletions
Author(s) -
Ascaso Francisco J,
LopezGallardo Ester,
Del Prado Eduardo,
RuizPesini Eduardo,
Montoya Julio
Publication year - 2010
Publication title -
clinical and experimental ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.3
H-Index - 74
eISSN - 1442-9071
pISSN - 1442-6404
DOI - 10.1111/j.1442-9071.2010.02335.x
Subject(s) - medicine , maculopathy , kearns–sayre syndrome , ophthalmology , mitochondrial dna , lesion , macular dystrophy , macular degeneration , genetics , pathology , biology , endocrinology , retinopathy , gene , diabetes mellitus
A bstract 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.