Abstract

RAMIREZ-MIRANDA, A. et al. PCR-based detection of heteroplasmic deleted mitochondrial DNA in Kearns-Sayre Syndrome. Arch Soc Esp Oftalmol [online]. 2008, vol.83, n.3, pp.155-160. ISSN 0365-6691.

Objective: To describe the clinical data and the results of molecular analyses of the mitochondrial DNA in a patient with Kearns-Sayre Syndrome. Methods: Molecular analyses of mitochondrial DNA from the patient included PCR amplification of a region where the common Kearns- Sayre deletion is located and Genotype-Phenotype correlations are discussed. Results: The affected patient showed ptosis, progressive external ophthalmoplegia, pigmentary changes in the peripheral retina and right bundle block. Molecular analysis disclosed a ~5kb deletion in the mitochondrial DNA and some wild type mtDNA indicating heteroplasmy. Conclusions: Molecular analysis of mitochondrial DNA confirmed the clinical diagnosis of Kearns-Sayre syndrome. PCR provides a rapid method to identify the common 4997 bp deletion in Kearns-Sayre syndrome. In such cases, PCR diagnosis could avoid invasive methods such as muscle biopsy or spinal tap.

Keywords : Kearns-Sayre syndrome; strabismus; ophthalmoplegia; mitochondrial DNA; heteroplasmy.

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