[Myotonic dystrophy type 1 in cataract patients: molecular diagnosis for screening and genetic counseling].
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.
Rojas
María Verónica Muñoz
MV
Departamento de Patologia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. veronicamunoz@terra.com.br
Chimelli
Leila Maria Cardão
LM
Simões
Aguinaldo Luiz
AL
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