Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic. Vision Res 2010 Sep 15;50(19):1989-99
Date
07/20/2010Pubmed ID
20638402Pubmed Central ID
PMC3005209DOI
10.1016/j.visres.2010.07.009Scopus ID
2-s2.0-77955845423 (requires institutional sign-in at Scopus site) 47 CitationsAbstract
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.
Author List
Carroll J, Rossi EA, Porter J, Neitz J, Roorda A, Williams DR, Neitz MAuthor
Joseph J. Carroll PhD Director, Professor in the Ophthalmology and Visual Sciences department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Color Vision DefectsCone Opsins
Electroretinography
Female
Gene Deletion
Humans
Phenotype
Polymerase Chain Reaction
Retinal Cone Photoreceptor Cells
Sequence Analysis, DNA
