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Functional photoreceptor loss revealed with adaptive optics: An alternate cause of color blindness
Abstract
There is enormous variation in the X-linked L/M (long/middle wavelength sensitive) gene array underlying “normal” color vision in humans. This variability has been shown to underlie individual variation in color matching behavior. Recently, red–green color blindness has also been shown to be associated with distinctly different genotypes. This has opened the possibility that there may be important phenotypic differences within classically defined groups of color blind individuals. Here, adaptive optics retinal imaging has revealed a mechanism for producing dichromatic color vision in which the expression of a mutant cone photopigment gene leads to the loss of the entire corresponding class of cone photoreceptor cells. Previously, the theory that common forms of inherited color blindness could be caused by the loss of photoreceptor cells had been discounted. We confirm that remarkably, this loss of one-third of the cones does not impair any aspect of vision other than color.
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“There is a perfect correlation between the opsin gene specifying this combination and color vision phenotype, despite the fact that the arrays differ dramatically in the number of opsin genes, and in the identity of the gene that specifies the LIAVA combination.”
From The genetics of normal and defective color vision (2011) · cites this paper as Carroll et al., 2004
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“The adaptive optics images of the retina from a male with deuteranopia whose M opsin gene encoded the LIAVA combination show a mottled appearance of the cone mosaic. There are large regions lacking visible photoreceptors interspersed with the visible photoreceptors.”
From The genetics of normal and defective color vision (2011) · cites this paper as Carroll et al., 2004
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“the LIAVA combination has never been found in a person without vision problems and it has been found on a variety of genetic backgrounds”
From The genetics of normal and defective color vision (2011) · cites this paper as Carroll et al., 2004
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“Males whose L opsin contains this deleterious combination are protanopes, males whose M opsin contains this combination are deuteranopes, males who have a single opsin gene on the X-chromosome that specifies this combination or for whom the first two opsin genes in the array specify this combination are blue cone monochromats.”
From The genetics of normal and defective color vision (2011) · cites this paper as Carroll et al., 2004
Experimental — accuracy not yet measuredIn the citing paper
“In recent years, it has been discovered that deleterious combinations of amino acids at the dimorphic positions can be produced as a consequence of intermixing of L and M opsin genes.”
From The genetics of normal and defective color vision (2011) · cites this paper as Carroll et al., 2004
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“The LIAVA combination is associated with the absence of cone function when specified either by an L or an M opsin gene.”
From The genetics of normal and defective color vision (2011) · cites this paper as Carroll et al., 2004
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Cited by
Sorted by citations
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
Self-citationGibbs, D., Cideciyan, A. V., Jacobson, S. G., & Williams, D. S. (2009) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.09-3471 · Cited by 82
Self-citation
Metadata
- Authors
- Carroll, J., Neitz, M., Hofer, H., Neitz, J., & Williams, D. R.
- Affiliations
- Center for Visual Science, University of Rochester, Rochester, NY 14627-0270; and Departments of Ophthalmology and Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2004-05-17
- Volume
- 101
- Issue
- 22
- Pages
- 8461-8466
- ISSN
- 0027-8424
- 1091-6490
- Cited by
- 191
- References
- 0
- Language
- en
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