Kearns-Sayre Syndrome Masquerading as Myasthenia Gravis.

Jared T SokolSandra HoyekAnne B FultonNimesh A Patel

Published in: Retinal cases & brief reports (2022)

We report a case of KSS found to have a novel large-scale mtDNA deletion. The presence of a mitochondrial pigmentary retinopathy found on dilated examination led to reconsideration of the previous diagnosis of MG and ultimately led to the correct diagnosis of KSS.

Keyphrases

myasthenia gravis
oxidative stress
mitochondrial dna
case report
gene expression
dna methylation