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Optic neuropathy associated with mitochondrial tRNA[Leu(UUR)] A3243G mutation.
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Abstract
To report the association of optic neuropathy and mitochondrial tRNA[Leu(UUR)] A3243G mutation which is known to be responsible for MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes), diabetes mellitus with deafness, and progressive external opthalmoplegia. Pigmentary retinopathy, opthalmoparesis, and ptosis have been relatively frequently reported to be associated with the mutation in the literature. However, optic atrophy has rarely been reported to be associated with the mutation.