Journal
VISION RESEARCH
Volume 50, Issue 19, Pages 1989-1999Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.visres.2010.07.009
Keywords
Adaptive optics; Blue cone monochromacy; Color vision; Cones; Opsin; Photopigment
Categories
Funding
- National Eye Institute [F32-EY014749, R01-EY017607, R01EY004367, R01-EY014375, R01-EY009620, R01-EY009303, P30-EY001319, P30EY001931]
- University of California at Santa Cruz [AST-9876783]
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Blue cone monochromacy (BCM) is an X-linked condition in which long- (L) and middle- (M) wavelength-sensitive cone function is absent. Due to the X-linked nature of the condition, female carriers are spared from a full manifestation of the associated defects but can show visual symptoms, including abnormal cone electroretinograms. Here we imaged the cone mosaic in four females carrying an L/M array with deletion of the locus control region, resulting in an absence of L/M opsin gene expression (effectively acting as a cone opsin knockout). On average, they had cone mosaics with reduced density and disrupted organization compared to normal trichromats. This suggests that the absence of opsin in a subset of cones results in their early degeneration, with X-inactivation the likely mechanism underlying phenotypic variability in BCM carriers. (C) 2010 Elsevier Ltd. All rights reserved.
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