Optic neuropathy associated with mitochondrial tRNA(Leu(UUR)) A3243G mutation

Purpose/Background: 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. Methods: Analyses including measurement of the corrected visual acuity, color vision, pupillary examination, funduscopic examination, visual field, Visual evoked potential, and brain imaging study were performed in our two patients with the mutation. Results: In disagreement with previous reports, this study revealed the association between optic neuropathy and the mutation in the two patients. Conclusion: There might be some degree of optic neuropathy related to the tRNA(Leu(UUR)) A3243G mutation. Thus more detailed ophthalmologic examination should be done to detect optic neuropathy.