title: Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy.
abstract: OBJECTIVE
  There are many similarities in the clinical presentation of Leber hereditary optic neuropathy (LHON) and in patients who have optic neuropathy and a history of heavy tobacco and alcohol consumption. The main objective of this study is to investigate the frequency of primary and secondary mitochondrial DNA (mtDNA) mutations for LHON in patients diagnosed as having alcohol and tobacco optic neuropathy (ATON).
  
  
  METHODS
  Twenty-six patients who had a history of heavy alcohol and tobacco consumption and who developed bilateral optic neuropathy were tested for primary mutations (G11778A, T14484C, and G3460A) by restriction analysis, and 14 secondary mutations in the genes mitochondrially encoded NADH dehydrogenase 1 (MT-ND1), mitochondrially encoded NADH dehydrogenase 4 (MT-ND4), mitochondrially encoded NADH dehydrogenase 4L (MT-ND4L), mitochondrially encoded NADH dehydrogenase 5 (MT-ND5), mitochondrially encoded NADH dehydrogenase 6 (MT-ND6), and mitochondrially encoded cytochrome B (MT-CYB) by direct sequencing.
  
  
  RESULTS
  Four (15.4%) of 26 patients tested positive for LHON primary mutations, two for the G11778A mutation, and two for the T14484C mutation. No patient tested positive for any of the 14 secondary mutations. Familial recurrence was present in four patients, and only three of these patients have presented the LHON mutation.
  
  
  CONCLUSIONS
  The diagnosis of LHON should be considered in all patients diagnosed as having optic neuropathy, particularly those with familial recurrence of vision loss.
authors.affiliation: Departamento de Oftalmologia e Otorrinolaringologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, São Paulo, Brazil.
authors.forename: Marcela Scabello
authors.initials: MS
authors.lastname: Amaral-Fernandes
authors.forename: Ana Maria
authors.initials: AM
authors.lastname: Marcondes
authors.forename: Paulo Maurício
authors.initials: PM
authors.lastname: do Amor Divino Miranda
authors.forename: Andréa Trevas
authors.initials: AT
authors.lastname: Maciel-Guerra
authors.forename: Edi Lúcia
authors.initials: EL
authors.lastname: Sartorato
mesh_terms: D000293:Adolescent; D000328:Adult; D000428:Alcohol Drinking; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial; D005260:Female; D050259:Genes, Mitochondrial; D006801:Humans; D007527:Isoenzymes / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D009245:NADH Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D029242:Optic Atrophy, Hereditary, Leber / Q000201:enzymology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012907:Smoking
chemical_list: D004272:DNA, Mitochondrial; D007527:Isoenzymes; D009245:NADH Dehydrogenase