Dam. Pillers et al., DYSTROPHIN EXPRESSION IN THE HUMAN RETINA IS REQUIRED FOR NORMAL FUNCTION AS DEFINED BY ELECTRORETINOGRAPHY, Nature genetics, 4(1), 1993, pp. 82-86
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.