Pillers D A, Bulman D E, Weleber R G, Sigesmund D A, Musarella M A, Powell B R, Murphey W H, Westall C, Panton C, Becker L E
Department of Pediatrics, Oregon Health Sciences University, Portland 97201.
Nat Genet. 1993 May;4(1):82-6. doi: 10.1038/ng0593-82.
We have studied retinal function by electroretinography in five Becker and six Duchenne muscular dystrophy patients. All had abnormal electroretinograms with a markedly reduced amplitude for the b-wave in the dark-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 as the result of alternative splicing. The localization of dystrophin to the outer plexiform layer coincident with the abnormal b-wave suggests that dystrophin is required for normal retinal electrophysiology.
