Optic neuropathy associated with mitochondrial tRNALeu(UUR) A3243G mutation

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Purpose/Background: To report the association of optic neuropathy and mitochondrial tRNALeu(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 tRNALeu(UUR) A3243G mutation. Thus more detailed ophthalmologic examination should be done to detect optic neuropathy.

Original languageEnglish
Pages (from-to)101-105
Number of pages5
JournalOphthalmic Genetics
Volume18
Issue number2
DOIs
StatePublished - 1 Jan 1997

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RNA, Transfer, Leu
Optic Nerve Diseases
Mutation
MELAS Syndrome
Optic Atrophy
Color Vision
Retinitis Pigmentosa
Visual Evoked Potentials
Deafness
Visual Fields
Neuroimaging
Visual Acuity
Diabetes Mellitus

Keywords

  • Diabetes millitus with deafness
  • MELAS
  • Mitochondrial tRNA A3243G mutation
  • Optic neuropathy

Cite this

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abstract = "Purpose/Background: To report the association of optic neuropathy and mitochondrial tRNALeu(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 tRNALeu(UUR) A3243G mutation. Thus more detailed ophthalmologic examination should be done to detect optic neuropathy.",
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Optic neuropathy associated with mitochondrial tRNALeu(UUR) A3243G mutation. / Hwang, Jeong-Min; Park, Hye Won; Kim, Seong-Joon.

In: Ophthalmic Genetics, Vol. 18, No. 2, 01.01.1997, p. 101-105.

Research output: Contribution to journalArticle

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