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The Spectrum of Maculopathy in Mitochondrial DNA A3243G Mutation: A Case Series of Six Patients.

Klinische Monatsblatter fur Augenheilkunde - 1 Apr 2021

Kaisari Eirini, Borruat François-Xavier

Abstract excerpt

BACKGROUND: The mitochondrial DNA (mtDNA) A3243G point mutation encompasses a heterogenous group of disorders including mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), and, rarely, chronic progressive external ophthalmoplegia (CPEO). Regardless of the clinical phenotype, a specific retinopathy has been associated with the presence...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33930928
DOI: 10.1055/a-1386-5826

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