DYSTROPHIN EXPRESSION IN THE HUMAN RETINA IS REQUIRED FOR NORMAL FUNCTION AS DEFINED BY ELECTRORETINOGRAPHY

We have studied retinal function by electroretinography in five Becker and six Duchenne muscular dystrophy patients. All had abnormal electr oretinograms with a markedly reduced amplitude for the b-wave in the d ark-adapted state. Using three antisera raised to different domains of dystrophin, we identified dystrophin in the outer plexiform layer of human retina. The retinal dystrophin is present in multiple isoforms a s the result of alternative splicing. The localization of dystrophin t o the outer plexiform layer coincident with the abnormal b-wave sugges ts that dystrophin is required for normal retinal electrophysiology.