Dystrophin expression in the human retina is required for normal function as defined by electroretinography

D. A M Pillers, D. E. Bulman, Richard Weleber, D. A. Sigesmund, M. A. Musarella, B. R. Powell, W. H. Murphey, C. Westall, C. Panton, L. E. Becker, R. G. Worton, P. N. Ray

Research output: Contribution to journalArticle

129 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)82-86
Number of pages5
JournalNature Genetics
Volume4
Issue number1
DOIs
StatePublished - 1993

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Electroretinography
Dystrophin
Retina
Duchenne Muscular Dystrophy
Electrophysiology
Alternative Splicing
Immune Sera
Protein Isoforms

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Pillers, D. A. M., Bulman, D. E., Weleber, R., Sigesmund, D. A., Musarella, M. A., Powell, B. R., ... Ray, P. N. (1993). Dystrophin expression in the human retina is required for normal function as defined by electroretinography. Nature Genetics, 4(1), 82-86. https://doi.org/10.1038/ng0593-82

Dystrophin expression in the human retina is required for normal function as defined by electroretinography. / Pillers, D. A M; Bulman, D. E.; Weleber, Richard; Sigesmund, D. A.; Musarella, M. A.; Powell, B. R.; Murphey, W. H.; Westall, C.; Panton, C.; Becker, L. E.; Worton, R. G.; Ray, P. N.

In: Nature Genetics, Vol. 4, No. 1, 1993, p. 82-86.

Research output: Contribution to journalArticle

Pillers, DAM, Bulman, DE, Weleber, R, Sigesmund, DA, Musarella, MA, Powell, BR, Murphey, WH, Westall, C, Panton, C, Becker, LE, Worton, RG & Ray, PN 1993, 'Dystrophin expression in the human retina is required for normal function as defined by electroretinography', Nature Genetics, vol. 4, no. 1, pp. 82-86. https://doi.org/10.1038/ng0593-82
Pillers, D. A M ; Bulman, D. E. ; Weleber, Richard ; Sigesmund, D. A. ; Musarella, M. A. ; Powell, B. R. ; Murphey, W. H. ; Westall, C. ; Panton, C. ; Becker, L. E. ; Worton, R. G. ; Ray, P. N. / Dystrophin expression in the human retina is required for normal function as defined by electroretinography. In: Nature Genetics. 1993 ; Vol. 4, No. 1. pp. 82-86.
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