| Literature DB >> 15869681 |
Timothy J Young1, Amit K Shah, Mun Heng Lee, David L Hayes.
Abstract
Kearns-Sayre syndrome (KSS) is a rare genetic abnormality. Classified as a mitochondrial cytopathy, the primary pathology of this syndrome is a disturbance of mitochondrial DNA, which codes for the proteins required for the respiratory chain reaction. Onset occurs before age 20, and is manifest as chronic progressive external ophthalmoplegia and retinal degeneration. Management issues of KSS include prophylactic cardiac pacing for conduction defects, which has been shown to improve survival. Other clinical considerations relate to dietary supplements to attempt to control the progressive effects of the disease.Entities:
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Year: 2005 PMID: 15869681 DOI: 10.1111/j.1540-8159.2005.40049.x
Source DB: PubMed Journal: Pacing Clin Electrophysiol ISSN: 0147-8389 Impact factor: 1.976