CORRELATION BETWEEN ELECTRORETINOGRAM FINDINGS AND MOLECULAR ANALYSISIN THE DUCHENNE MUSCULAR-DYSTROPHY PHENOTYPE

Fifteen consecutive patients with the Duchenne muscular dystrophy (DMD ) phenotype were studied. Each patient was asked to undergo an ophthal mic examination, an electroretinogram (ERG), and to donate a blood sam ple for molecular diagnosis. All 15 patients had a normal ophthalmic e xamination. Electroretinography was successful in 14/15 patients. The ERG tracings were normal in seven patients, abnormal in seven, and unr eliable in one. Blood for molecular analysis was obtained in 12/15 pat ients. In the seven patients with a normal ERG, five underwent molecul ar analysis, and in these five no deletion was detected in the dystrop hin gene. In the seven patients with an abnormal ERG, six had molecula r analysis available, and all six were found to have a deletion. These results suggest that patients with a classic DMD phenotype are geneti cally heterogeneous, and that this heterogeneity is reflected in the E RG.