Color-deficient cone mosaics associated with Xq28 opsin mutations: a stop codon versus gene deletions. Vision Res 2010 Nov 23;50(23):2396-402
Date
09/22/2010Pubmed ID
20854834Pubmed Central ID
PMC2975855DOI
10.1016/j.visres.2010.09.015Scopus ID
2-s2.0-78149406106 (requires institutional sign-in at Scopus site) 24 CitationsAbstract
Our understanding of the etiology of red-green color vision defects is evolving. While missense mutations within the long- (L-) and middle-wavelength sensitive (M-) photopigments and gross rearrangements within the L/M-opsin gene array are commonly associated with red-green defects, recent work using adaptive optics retinal imaging has shown that different genotypes can have distinct consequences for the cone mosaic. Here we examined the cone mosaic in red-green color deficient individuals with multiple X-chromosome opsin genes that encode L opsin, as well as individuals with a single X-chromosome opsin gene that encodes L opsin and a single patient with a novel premature termination codon in his M-opsin gene and a normal L-opsin gene. We observed no difference in cone density between normal trichomats and multiple or single-gene deutans. In addition, we demonstrate different phenotypic effects of a nonsense mutation versus the previously described deleterious polymorphism, (LIAVA), both of which differ from multiple and single-gene deutans. Our results help refine the relationship between opsin genotype and cone photoreceptor mosaic phenotype.
Author List
Wagner-Schuman M, Neitz J, Rha J, Williams DR, Neitz M, Carroll JAuthor
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
AdolescentAdult
Child
Codon, Terminator
Color Vision Defects
Cone Opsins
Female
Gene Deletion
Genes, X-Linked
Genotype
Humans
Male
Middle Aged
Phenotype
Retina
Retinal Cone Photoreceptor Cells
Sequence Analysis, DNA
Young Adult
