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
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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“In contrast, adaptive optics images of the retina from a color deficient male with the C203R mutation in his M opsin gene showed a cone mosaic that was relatively undisrupted in appearance compared to the LIAVA retina, although cone density was reduced compared to control retinas.”
From The genetics of normal and defective color vision (2011) · cites this paper as Carroll et al., 2009
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The genetics of normal and defective color vision
Neitz, J., & Neitz, M. (2011) · Vision Research · doi:10.1016/j.visres.2010.12.002 · Cited by 377
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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
- Cited by
- 59
- References
- 58
- Language
- en
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- 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. (2009). Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.0910128106
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