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Candice Davidoff, Jay Neitz, Maureen Neitz; A new genetic assay for color vision deficiency outperforms behavioral tests. Journal of Vision 2011;11(15):34. doi: 10.1167/11.15.34.
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© ARVO (1962-2015); The Authors (2016-present)
The Sequenom MassArray instrument allows genotyping at known polymorphic sites using specially designed PCR primers followed by mass spectrometry. This technique is ideally suited to diagnosis of color vision deficiency, a condition whose genetic underpinnings are well understood. Though it does not provide a full gene sequence, the MassArray replaces a cumbersome, multistep PCR while still offering accurate, detailed analysis of the cone opsin genes that underlie color vision. The multiplexed assay format allows rapid, high throughput genetic characterization of cone opsin array length and composition in a single well. In preliminary results from 46 subjects, the MassArray easily distinguished normal individuals from those with anomalous color vision and correctly classified protanopes, deuteranopes, deuteranomalous and protanomolous individuals, and female carriers. Color vision diagnosis including presence vs. absence, type and severity using the MassArray is more accurate than behavioral color vision tests such as the HRR, Dvorine, and Ishihara pseudoisochromatic plates, the Farnsworth-Munsell D15 and the anomaloscope. Genetic screening with the MassArray maintains high accuracy eliminating the need for experimenter training and lengthy subject testing while removing inconsistencies from variability in spectral content and intensity of illumination, viewing distance, communication problems and cheating that can decrease the reliability of behavioral tests.
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