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

Nature Genetics volume 4, pages 82–86 (1993)Cite this article

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.

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Author information

Authors and Affiliations

  1. Department of Pediatrics, Oregon Health Sciences University, Portland, Oregon, 97201, USA

    De-Ann M. Pillers & Berkley R. Powell

  2. Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, Oregon, 97201, USA

    De-Ann M. Pillers & Richard G. Weleber

  3. Department of Genetics and Research Institute, The Hospital for Sick Children and Department of Medical and Molecular Genetics, University of Toronto, Toronto, Ontario, Canada, M5G 1X8

    Dennis E. Bulman, Maria A. Musarella, Ronald G. Worton & Peter N. Ray

  4. Department of Ophthamology, Oregon Health Sciences University, Portland, Oregon, 97201, USA

    Richard G. Weleber & William H. Murphey

  5. Department of Ophthalmology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada, M5G 1X8

    Dayle A. Sigesmund, Maria A. Musarella, Carol Westall & Carole Panton

  6. Department of Neuropathology and Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8

    Laurence E. Becker

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  1. De-Ann M. Pillers
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  2. Dennis E. Bulman
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Pillers, DA., Bulman, D., Weleber, R. et al. Dystrophin expression in the human retina is required for normal function as defined by electroretinography. Nat Genet 4, 82–86 (1993). https://doi.org/10.1038/ng0593-82

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