The DOI matches its Crossref record; 27 of the 27 references it cites were found in a registry or an index.
Characterization of a novel form of X-linked incomplete achromatopsia
Abstract
X-linked incomplete achromatopsia (XIA), also called blue-cone monochromacy (BCM), is a rare cone disorder that most commonly results either from one of two conditions.. The first condition is a deletion of the locus control region (LCR) which is a critical DNA element that lies upstream of the L and M photopigment gene array on the X-chromosome and is necessary for expression of the photopigment genes. The second condition is an inactivating point mutation within the coding sequence of the remaining photopigment gene in an array from which all but one gene has been deleted. Many previous studies have concluded that affected individuals either have only rods and S-cones (Blackwell & Blackwell, 1957, 1961; Daw & Enoch, 1973; Hess et al., 1989) or have rods, S-cones, and another cone type that contains the rod pigment (Pokorny et al., 1970; Alpern et al., 1971). However, Smith et al. (1983) described individuals with XIA who had residual L-cone function. Here we report results for a subject with XIA who appears to have residual M-cone function. Genetic analysis revealed that he had apparently normal genes for M-cone photopigment thus leaving open the possibility that he has a contribution to vision based on expression of these genes at a very low level.
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“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 Crognale et al., 2004
Citations
Cites
Molecular Genetics of Human Color Vision: The Genes Encoding Blue, Green, and Red Pigments
Nathans, J., Thomas, D., & Hogness, D. S. (1986) · Science · doi:10.1126/science.2937147 · Cited by 1,734
Spectral tuning of pigments underlying red–green color vision
Neitz, M., Neitz, J., & Jacobs, G. H. (1991) · Science · doi:10.1126/science.1903559 · Cited by 382
Self-citationMolecular genetics of human blue cone monochromacy
Nathans, J., Davenport, C. M., Maumenee, I. H., Lewis, R. A., Hejtmancik, J. F., Litt, M., Lovrien, E., Weleber, R., Bachynski, B., Zwas, F., et al. (1989) · Science · doi:10.1126/science.2788922 · Cited by 255
Equiluminance: spatial and temporal factors and the contribution of blue-sensitive cones
Cavanagh, P., MacLeod, D. I. A., & Anstis, S. (1987) · Journal of the Optical Society of America A · doi:10.1364/josaa.4.001428 · Cited by 213
Visual evoked potentials in three-dimensional color space: Correlates of spatio-chromatic processing
Rabin, J. C., Switkes, E., Crognale, M. A., Schneck, M. E., & Adams, A. J. (1994) · Vision Research · doi:10.1016/0042-6989(94)90222-4 · Cited by 184
Self-citationEstimates of L:M cone ratio from ERG flicker photometry and genetics
Carroll, J., Neitz, J., & Neitz, M. (2002) · Journal of Vision · doi:10.1167/2.8.1 · Cited by 142
Self-citationRod and cone receptor mechanisms in typical and atypical congenital achromatopsia
Blackwell, H. R., & Blackwell, O. M. (1961) · Vision Research · doi:10.1016/0042-6989(61)90022-0 · Cited by 126
Estimates of L : M cone ratio from ERG flicker photometry and genetics
Carroll, J., Jay Neitz, A., & Neitz, M. (2002) · Cited by 120
Self-citationPosition of a ‘green–red’ hybrid gene in the visual pigment array determines colour-vision phenotype
Hayashi, T., Motulsky, A. G., & Deeb, S. S. (1999) · Nature Genetics · doi:10.1038/8798 · Cited by 84
Winderickx, J., Battlsti, L., Hlbiya, Y., G.Motulsky, A., & Deeb, S. S. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.9.1413 · Cited by 79
Cited by
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-citationCone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin
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., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0910128106 · Cited by 59
Self-citationVariable retinal phenotypes caused by mutations in the X-linked photopigment gene array
Mizrahi-Meissonnier, L., Merin, S., Banin, E., & Sharon, D. (2010) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.09-4592 · Cited by 39
Metadata
- Authors
- CROGNALE, M. A., FRY, M., HIGHSMITH, J., HAEGERSTROM-PORTNOY, G., NEITZ, M., NEITZ, J., & WEBSTER, M. A.
- Venue
- Visual Neuroscience
- Publisher
- Maximum Academic Press
- Published
- 2004-05
- Volume
- 21
- Issue
- 3
- Pages
- 197-203
- ISSN
- 0952-5238
- 1469-8714
- Cited by
- 22
- References
- 27
- Language
- en
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- CROGNALE, M. A., FRY, M., HIGHSMITH, J., HAEGERSTROM-PORTNOY, G., NEITZ, M., NEITZ, J., & WEBSTER, M. A. (2004). Characterization of a novel form of X-linked incomplete achromatopsia. Visual Neuroscience. https://doi.org/10.1017/s0952523804213384
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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