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Cited by 59

The DOI matches its Crossref record; 58 of the 58 references it cites were found in a registry or an index.

Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin

Carroll, Joseph, Baraas, Rigmor C., Wagner-Schuman, Melissa, Rha, Jungtae, Siebe, Cory A., Sloan, Christina, Tait, Diane M., Thompson, Summer, Morgan, Jessica I. W., Neitz, Jay, Williams, David R., Foster, David H., Neitz, Maureen·2009·Proceedings of the National Academy of Sciences
DOI 10.1073/pnas.0910128106
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Abstract

Missense mutations in the cone opsins have been identified as a relatively common cause of red/green color vision defects, with the most frequent mutation being the substitution of arginine for cysteine at position 203 (C203R). When the corresponding cysteine is mutated in rhodopsin, it disrupts proper folding of the pigment, causing severe, early onset retinitis pigmentosa. While the C203R mutation has been associated with loss of cone function in color vision deficiency, it is not known what happens to cones expressing this mutant opsin. Here, we used high-resolution retinal imaging to examine the cone mosaic in two individuals with genes encoding a middle-wavelength sensitive (M) pigment with the C203R mutation. We found a significant reduction in cone density compared to normal and color-deficient controls, accompanying disruption in the cone mosaic in both individuals, and thinning of the outer nuclear layer. The C203R mosaics were different from that produced by another mutation (LIAVA) previously shown to disrupt the cone mosaic. Comparison of these mosaics provides insight into the timing and degree of cone disruption and has implications for the prospects for restoration of vision loss associated with various cone opsin mutations.

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Research works printed but not linked: 2

  1. DF Ventura, et al. Preliminary norms for the Cambridge Color Test. Normal & Defective Color Vision, eds JD Mollon, J Pokorny, K Knoblauch (Oxford Univ Press, Oxford, 2003).
  2. 10.1002/1520-6378(2001)26:1 <::AID-COL51>3.0.CO;2-L · doi:10.1002/1520-6378(2001)26:1

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Metadata

Authors
Carroll, J., Baraas, R. C., Wagner-Schuman, M., Rha, J., Siebe, C. A., Sloan, C., Tait, D. M., Thompson, S., Morgan, J. I. W., Neitz, J., Williams, D. R., Foster, D. H., & Neitz, M.
Affiliations
  • Departments of aOphthalmology,
  • Department of Optometry and Visual Science, Buskerud University College, 3603 Kongsberg, Norway;
  • Biophysics, and
  • Summer Program for Undergraduate Research, Medical College of Wisconsin, Milwaukee, WI 53226;
  • Center for Visual Science, University of Rochester, Rochester, NY 14627-0270; and
  • School of Electrical and Electronic Engineering, University of Manchester, Manchester M60 1QD, United Kingdom
Venue
Proceedings of the National Academy of Sciences
Publisher
National Academy of Sciences
Published
2009-12-08
Volume
106
Issue
49
Pages
20948-20953
ISSN
  • 0027-8424
  • 1091-6490
DOI
10.1073/pnas.0910128106
Cited by
59
References
58
Language
en

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