title: [Myotonic dystrophy type 1 in cataract patients: molecular diagnosis for screening and genetic counseling].
abstract: OBJECTIVE
  To detect MD1 premutation and full mutation carriers among cataract patients and offer familial genetic counseling.
  
  
  METHODS
  We studied the DNA of 60 selected cataract patients through polymerase chain reaction analysis. This study was performed at the "Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto" where selected patients had been examined at the Cataract Outpatient Clinic from 01/01/1982 to 30/06/1995. Selection criteria were age under 55 with no obvious precipitating factor, except diabetes mellitus type 2, with or without neuromuscular signs suggestive of myotonic dystrophy.
  
  
  RESULTS
  Three patients were found to have a full mutation corresponding to 5% of the group. Additional affected individuals were found among patients' relatives. No premutation was found.
  
  
  CONCLUSIONS
  These results emphazise the importance of screening for MD1 gene carriers among cataract patients, and further genetic counselling.
authors.affiliation: Departamento de Patologia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. veronicamunoz@terra.com.br
authors.forename: María Verónica Muñoz
authors.initials: MV
authors.lastname: Rojas
authors.forename: Leila Maria Cardão
authors.initials: LM
authors.lastname: Chimelli
authors.forename: Aguinaldo Luiz
authors.initials: AL
authors.lastname: Simões
mesh_terms: D000328:Adult; D002386:Cataract / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009223:Myotonic Dystrophy / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction