Camille Bonte

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The A3243G transition in the mitochondrial DNA is commonly associated with the syndrome of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Previously, atypical pigmentary retinopathy has been described in patients with this syndrome and in patients with other phenotypes of the same mitochondrial defect. Maternally inherited(More)
PURPOSE To report the characteristic findings of a macular pattern dystrophy in patients with diabetes and deafness resulting from the mitochondrial point mutation at position 3243 and to expand the clinical spectrum of this condition by describing functional testing results. METHODS Four diabetic patients who were referred to the eye department for(More)