Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy

D. A. Sigesmund, Richard Weleber, D. A M Pillers, C. A. Westall, C. M. Panton, B. R. Powell, E. Heon, W. H. Murphey, M. A. Musarella, P. N. Ray

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Abstract

Purpose: Dystrophin, the Duchenne muscular dystrophy gene product, has been localized to the outer plexiform layer of normal human retina. The purpose of this study is to define completely the ocular phenotype associated with mutations at Xp21, the Duchenne muscular dystrophy gene locus. Methods: Twenty-one patients with a diagnosis of Duchenne muscular dystrophy and five patients with Becker muscular dystrophy had ophthalmologic examinations, including electroretinograms (ERGs). Electroretinogram results were correlated with respect to patient DNA analysis. Results: Twenty-three (88%) patients had reduced scotopic b-wave amplitudes to bright-white flash stimulus, including nine with negative-shaped ERGs. Rod-isolated responses were reduced or not recordable above noise in 14 (67%) patients. Most isolated cone responses (92%) were normal. Flicker amplitudes were reduced in seven patients. Two of these patients with proximal (5' end) deletions had normal scotopic b-waves to dim blue and bright-white flash stimulus. Patients with deletions toward the middle of the gene had greater reductions in their scotopic b-wave amplitudes than patients with deletions located toward the 5' end. Most patients had normal color vision, extraocular muscle function, and Snellen visual acuity. Increased macular pigmentation was seen in 16 patients with Duchenne muscular dystrophy. Conclusion: Most patients with Duchenne or Becker muscular dystrophy have evidence of abnormal scotopic ERGs. Patients with deletions in the central region of the gene had the most severe ERG changes. This study supports previous suggestions that dystrophin may play a role in retinal neurotransmission. The presence of increased macular pigmentation and normal photopic ERGs distinguishes patients with Duchenne muscular dystrophy mutations from other X-linked retinal disorders with negative-shaped ERGs.

Original languageEnglish (US)
Pages (from-to)856-865
Number of pages10
JournalOphthalmology
Volume101
Issue number5
StatePublished - 1994

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Duchenne Muscular Dystrophy
Phenotype
Dystrophin
Pigmentation
Genes
Oculomotor Muscles
Color Vision
Mutation
Synaptic Transmission
Visual Acuity
Noise
Retina

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Sigesmund, D. A., Weleber, R., Pillers, D. A. M., Westall, C. A., Panton, C. M., Powell, B. R., ... Ray, P. N. (1994). Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy. Ophthalmology, 101(5), 856-865.

Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy. / Sigesmund, D. A.; Weleber, Richard; Pillers, D. A M; Westall, C. A.; Panton, C. M.; Powell, B. R.; Heon, E.; Murphey, W. H.; Musarella, M. A.; Ray, P. N.

In: Ophthalmology, Vol. 101, No. 5, 1994, p. 856-865.

Research output: Contribution to journalArticle

Sigesmund, DA, Weleber, R, Pillers, DAM, Westall, CA, Panton, CM, Powell, BR, Heon, E, Murphey, WH, Musarella, MA & Ray, PN 1994, 'Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy', Ophthalmology, vol. 101, no. 5, pp. 856-865.
Sigesmund DA, Weleber R, Pillers DAM, Westall CA, Panton CM, Powell BR et al. Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy. Ophthalmology. 1994;101(5):856-865.
Sigesmund, D. A. ; Weleber, Richard ; Pillers, D. A M ; Westall, C. A. ; Panton, C. M. ; Powell, B. R. ; Heon, E. ; Murphey, W. H. ; Musarella, M. A. ; Ray, P. N. / Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy. In: Ophthalmology. 1994 ; Vol. 101, No. 5. pp. 856-865.
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abstract = "Purpose: Dystrophin, the Duchenne muscular dystrophy gene product, has been localized to the outer plexiform layer of normal human retina. The purpose of this study is to define completely the ocular phenotype associated with mutations at Xp21, the Duchenne muscular dystrophy gene locus. Methods: Twenty-one patients with a diagnosis of Duchenne muscular dystrophy and five patients with Becker muscular dystrophy had ophthalmologic examinations, including electroretinograms (ERGs). Electroretinogram results were correlated with respect to patient DNA analysis. Results: Twenty-three (88{\%}) patients had reduced scotopic b-wave amplitudes to bright-white flash stimulus, including nine with negative-shaped ERGs. Rod-isolated responses were reduced or not recordable above noise in 14 (67{\%}) patients. Most isolated cone responses (92{\%}) were normal. Flicker amplitudes were reduced in seven patients. Two of these patients with proximal (5' end) deletions had normal scotopic b-waves to dim blue and bright-white flash stimulus. Patients with deletions toward the middle of the gene had greater reductions in their scotopic b-wave amplitudes than patients with deletions located toward the 5' end. Most patients had normal color vision, extraocular muscle function, and Snellen visual acuity. Increased macular pigmentation was seen in 16 patients with Duchenne muscular dystrophy. Conclusion: Most patients with Duchenne or Becker muscular dystrophy have evidence of abnormal scotopic ERGs. Patients with deletions in the central region of the gene had the most severe ERG changes. This study supports previous suggestions that dystrophin may play a role in retinal neurotransmission. The presence of increased macular pigmentation and normal photopic ERGs distinguishes patients with Duchenne muscular dystrophy mutations from other X-linked retinal disorders with negative-shaped ERGs.",
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T1 - Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy

AU - Sigesmund, D. A.

AU - Weleber, Richard

AU - Pillers, D. A M

AU - Westall, C. A.

AU - Panton, C. M.

AU - Powell, B. R.

AU - Heon, E.

AU - Murphey, W. H.

AU - Musarella, M. A.

AU - Ray, P. N.

PY - 1994

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N2 - Purpose: Dystrophin, the Duchenne muscular dystrophy gene product, has been localized to the outer plexiform layer of normal human retina. The purpose of this study is to define completely the ocular phenotype associated with mutations at Xp21, the Duchenne muscular dystrophy gene locus. Methods: Twenty-one patients with a diagnosis of Duchenne muscular dystrophy and five patients with Becker muscular dystrophy had ophthalmologic examinations, including electroretinograms (ERGs). Electroretinogram results were correlated with respect to patient DNA analysis. Results: Twenty-three (88%) patients had reduced scotopic b-wave amplitudes to bright-white flash stimulus, including nine with negative-shaped ERGs. Rod-isolated responses were reduced or not recordable above noise in 14 (67%) patients. Most isolated cone responses (92%) were normal. Flicker amplitudes were reduced in seven patients. Two of these patients with proximal (5' end) deletions had normal scotopic b-waves to dim blue and bright-white flash stimulus. Patients with deletions toward the middle of the gene had greater reductions in their scotopic b-wave amplitudes than patients with deletions located toward the 5' end. Most patients had normal color vision, extraocular muscle function, and Snellen visual acuity. Increased macular pigmentation was seen in 16 patients with Duchenne muscular dystrophy. Conclusion: Most patients with Duchenne or Becker muscular dystrophy have evidence of abnormal scotopic ERGs. Patients with deletions in the central region of the gene had the most severe ERG changes. This study supports previous suggestions that dystrophin may play a role in retinal neurotransmission. The presence of increased macular pigmentation and normal photopic ERGs distinguishes patients with Duchenne muscular dystrophy mutations from other X-linked retinal disorders with negative-shaped ERGs.

AB - Purpose: Dystrophin, the Duchenne muscular dystrophy gene product, has been localized to the outer plexiform layer of normal human retina. The purpose of this study is to define completely the ocular phenotype associated with mutations at Xp21, the Duchenne muscular dystrophy gene locus. Methods: Twenty-one patients with a diagnosis of Duchenne muscular dystrophy and five patients with Becker muscular dystrophy had ophthalmologic examinations, including electroretinograms (ERGs). Electroretinogram results were correlated with respect to patient DNA analysis. Results: Twenty-three (88%) patients had reduced scotopic b-wave amplitudes to bright-white flash stimulus, including nine with negative-shaped ERGs. Rod-isolated responses were reduced or not recordable above noise in 14 (67%) patients. Most isolated cone responses (92%) were normal. Flicker amplitudes were reduced in seven patients. Two of these patients with proximal (5' end) deletions had normal scotopic b-waves to dim blue and bright-white flash stimulus. Patients with deletions toward the middle of the gene had greater reductions in their scotopic b-wave amplitudes than patients with deletions located toward the 5' end. Most patients had normal color vision, extraocular muscle function, and Snellen visual acuity. Increased macular pigmentation was seen in 16 patients with Duchenne muscular dystrophy. Conclusion: Most patients with Duchenne or Becker muscular dystrophy have evidence of abnormal scotopic ERGs. Patients with deletions in the central region of the gene had the most severe ERG changes. This study supports previous suggestions that dystrophin may play a role in retinal neurotransmission. The presence of increased macular pigmentation and normal photopic ERGs distinguishes patients with Duchenne muscular dystrophy mutations from other X-linked retinal disorders with negative-shaped ERGs.

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