Mitochondrial DNA LHON mutations in alcoholic patients developing amblyopia

Montse Gomez Zaera, Òscar Miró, Luis Arias, Antoni Barrientos, Isabel Rojas, Jordi Arruga, Xavier Estivill, Jordi Casademont, Virginia Nunes

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Tobacco-alcohol amblyopia (TAA) is characterized by chronic painless bilateral central visual loss and cecocentral scotomas. It usually presents in men with heavy alcohol and/or tobacco consumption. Leber's hereditary optic neuropathy (LHON) is maternally transmitted and shares many of the clinical symptoms of tobacco-alcohol amblyopia. It has been associated to several mitochondrial DNA (mtDNA) mutations. Several LHON mutations were analyzed in three groups of individuals: amblyopic alcoholics, non-amblyopic alcoholics and non-alcoholic normal individuals. Toxicological history and anthropometrical parameters of the alcohol consumers were recorded. Nutritional parameters and vitamin status were determined in peripheral blood samples. Total DNA was isolated also from peripheral blood and it was used for the molecular genetic analysis of LHON mutations. Age, anthropometrical parameters, nutritional measurements and tobacco consumption were similar in both groups of alcoholics. Similarly, alcohol intake was equivalent in both groups. Primary LHON mutations were only found among amblyopic alcoholics. Moreover, the proportion of them that presented two or more secondary mutations was higher than in non-amblyopic individuals or controls, indicating that secondary LHON mutations would act synergically in the outcome of some cases of amblyopia. Alcohol intake may enhance the susceptibility to develop amblyopia in individuals who harbour primary or more than one secondary LHON mutation.

Original languageEnglish (US)
Pages (from-to)23-33
Number of pages11
Issue number1-2
StatePublished - 1999
Externally publishedYes


  • Alcohol abuse
  • Amblyopia
  • LHON mutation
  • mtDNA
  • Nutritional deficiency

ASJC Scopus subject areas

  • Medicine (miscellaneous)


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