Electroretinographic findings in Duchenne/Becker muscular dystrophy and correlation with genotype.
OBJECTIVE
To correlate the electroretinography (ERG) findings in patients with Duchenne/Becker muscular dystrophy (D/BMD) with the genotype and evaluate the ERG findings in DMD carriers.


METHODS
Fifteen deletion positive patients with DMD, two deletion positive patients with BMD and six DMD carriers in two families having a positive disease history were evaluated with DNA analysis, ophthalmologic and ERG findings.


RESULTS
The mean age of the deletion positive D/BMD patients was 11.1 +/- 3.7 (range: 7-20). No abnormality was detected in the ophthalmic examination of the patients. In three out of 17 patients with D/BMD, ERG was normal whereas in 14 patients electronegative ERG was recorded in scotopic conditions. Mutational alterations observed in these three cases with normal ERG were located exceptionally at 5' hot spot; not like the others within central region. In all DMD carriers ERG findings were recorded as normal.


CONCLUSIONS
ERG findings in D/BMD patients may show some correlations with molecular analysis, whereas it is not useful in DMD carriers.
D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002872:Chromosome Deletion; D004247:DNA / Q000032:analysis; D004596:Electroretinography; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000503:physiopathology*; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D012164:Retinal Diseases / Q000235:genetics* / Q000503:physiopathology*
D004247:DNA