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Optic neuropathy associated with mitochondrial tRNA[Leu(UUR)] A3243G mutation
1Department of Ophthalmology, Seoul Municipal Boramae Hospital, College of Medicine, Seoul National University, Korea.
Ophthalmic Genetics
|June 1, 1997
Summary
This study highlights a potential link between optic neuropathy and the mitochondrial tRNA[Leu(UUR)] A3243G mutation, challenging previous findings. Further ophthalmologic evaluations are recommended to confirm this association.
Area of Science:
- Genetics
- Ophthalmology
- Neurology
Background:
- The mitochondrial tRNA[Leu(UUR)] A3243G mutation is associated with MELAS, diabetes mellitus with deafness, and progressive external ophthalmoplegia.
- While pigmentary retinopathy, ophthalmoparesis, and ptosis are frequently reported with this mutation, optic atrophy is rare.