Antituberculosis medication as a possible epigenetic factor of Leber's hereditary optic neuropathy.
OBJECTIVE
To investigate if antituberculosis medication including ethambutol could be a possible epigenetic factor in visual loss in Leber's hereditary optic neuropathy (LHON).


METHODS
The authors reviewed the medical records of 46 patients registered at Bundang Seoul National University Hospital from 2002 to 2006, who developed the typical clinical neuro-ophthalmologic features of LHON and possessed a mtDNA mutation at nucleotide 11778, 14484, 3460 or 4171.


RESULTS
Three of the 46 patients developed visual loss while taking antituberculosis medication. These three patients had the mtDNA 11778 mutation with a mean age of 32.7 years at the onset of visual loss, whereas the mean age of other 43 patients was 21.2 years. One of these three patients was female.


CONCLUSIONS
Antituberculosis medication may be an epigenetic factor of LHON in patients with a primary LHON mutation. This risk should be recognized by physicians and LHON carriers.
Seo
Je Hyun
JH
Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.
Hwang
Jeong-Min
JM
Park
Sung Sup
SS
D000293:Adolescent; D000328:Adult; D000995:Antitubercular Agents / Q000008:administration & dosage / Q000009:adverse effects*; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics; D004334:Drug Administration Schedule; D044127:Epigenesis, Genetic; D004977:Ethambutol / Q000009:adverse effects*; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics* / Q000503:physiopathology; D012189:Retrospective Studies; D014792:Visual Acuity; D055815:Young Adult
D000995:Antitubercular Agents; D004272:DNA, Mitochondrial; D004977:Ethambutol