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Polymegathism as a biomarker of mitochondrial disorders.
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University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia.
Mitochondrial A3243G mutation results in corneal endothelial polymegathism.
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Jonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Columbia University, New York, NY, USA.
Purpose: The mitochondrial DNA point mutation A3243G leads to a spectrum of syndromes ranging from MIDD to MELAS. Ocular manifestations include pattern macular dystrophy and concentric perifoveal atrophy. Given the high metabolic demand of corneal endothelial cells, we performed specular biomicroscopy analysis in patients harboring the mitochondrial DNA point mutation A3243G to assess for the associated presence of corneal endothelial abnormalities.
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