[Kearns-Sayre syndrome : a mitochondrial disease (OMIM #530000)]

Abstract

Kearns-Sayre syndrome is a rare mitochondrial disease which usually occurs sporadically with the presence of ptosis and the clinical triad of chronic progressive external ophthalmoplegia, atypical retinitis pigmentosa and cardiac conduction disorders. We show on the example of a young patient with unexplained atypical acquired ptosis and eye movement disorders, the correct interpretation of the diagnostic findings. Of importance is the early detection of potentially life-threatening complications which can lead to sudden cardiac death.