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

De Ann M. Pillers; Dennis E. Bulman; Richard G. Weleber; Dayle A. Sigesmund; Maria A. Musarella; Berkley R. Powell; William H. Murphey; Carol Westall; Carole Panton; Laurence E. Becker; Ronald G. Worton; Peter N. Ray

doi:10.1038/ng0593-82

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

De Ann M. Pillers, Dennis E. Bulman, Richard G. Weleber, Dayle A. Sigesmund, Maria A. Musarella, Berkley R. Powell, William H. Murphey, Carol Westall, Carole Panton, Laurence E. Becker, Ronald G. Worton, Peter N. Ray

Research output: Contribution to journal › Article › peer-review

144 Scopus citations

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 language	English (US)
Pages (from-to)	82-86
Number of pages	5
Journal	Nature genetics
Volume	4
Issue number	1
DOIs	https://doi.org/10.1038/ng0593-82
State	Published - May 1993
Externally published	Yes

ASJC Scopus subject areas

Genetics

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title = "Dystrophin expression in the human retina is required for normal function as defined by electroretinography",

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.",

author = "Pillers, {De Ann M.} and Bulman, {Dennis E.} and Weleber, {Richard G.} and Sigesmund, {Dayle A.} and Musarella, {Maria A.} and Powell, {Berkley R.} and Murphey, {William H.} and Carol Westall and Carole Panton and Becker, {Laurence E.} and Worton, {Ronald G.} and Ray, {Peter N.}",

year = "1993",

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language = "English (US)",

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T1 - Dystrophin expression in the human retina is required for normal function as defined by electroretinography

AU - Pillers, De Ann M.

AU - Bulman, Dennis E.

AU - Weleber, Richard G.

AU - Sigesmund, Dayle A.

AU - Musarella, Maria A.

AU - Powell, Berkley R.

AU - Murphey, William H.

AU - Westall, Carol

AU - Panton, Carole

AU - Becker, Laurence E.

AU - Worton, Ronald G.

AU - Ray, Peter N.

PY - 1993/5

Y1 - 1993/5

N2 - 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.

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

Abstract

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