Abstract
Kearns-Sayre syndrome (KSS) is a mitochondrial disorder. There is a large-scale mitochondrial DNA (mtDNA) deletion in most of the case. In this article, a case of KSS who has progressive external ophthalmoplegia (PEO), retinitis pigmentosa (RP), complete heart block, encephalopathy attacks, type-1 diabetes mellitus, ragged-red fiber (RRF) and lactic acidosis is presented and discussed in light of the literature available on this subjects. Diagnosis is confirmed by determination of mtDNA deletion.
Copyright and license
Copyright © 1998 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.
