Document Detail


Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindness.
MedLine Citation:
PMID:  15148406     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
There is enormous variation in the X-linked L/M (long/middle wavelength sensitive) gene array underlying "normal" color vision in humans. This variability has been shown to underlie individual variation in color matching behavior. Recently, red-green color blindness has also been shown to be associated with distinctly different genotypes. This has opened the possibility that there may be important phenotypic differences within classically defined groups of color blind individuals. Here, adaptive optics retinal imaging has revealed a mechanism for producing dichromatic color vision in which the expression of a mutant cone photopigment gene leads to the loss of the entire corresponding class of cone photoreceptor cells. Previously, the theory that common forms of inherited color blindness could be caused by the loss of photoreceptor cells had been discounted. We confirm that remarkably, this loss of one-third of the cones does not impair any aspect of vision other than color.
Authors:
Joseph Carroll; Maureen Neitz; Heidi Hofer; Jay Neitz; David R Williams
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.     Date:  2004-05-17
Journal Detail:
Title:  Proceedings of the National Academy of Sciences of the United States of America     Volume:  101     ISSN:  0027-8424     ISO Abbreviation:  Proc. Natl. Acad. Sci. U.S.A.     Publication Date:  2004 Jun 
Date Detail:
Created Date:  2004-06-02     Completed Date:  2004-07-15     Revised Date:  2013-04-18    
Medline Journal Info:
Nlm Unique ID:  7505876     Medline TA:  Proc Natl Acad Sci U S A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  8461-6     Citation Subset:  IM    
Affiliation:
Center for Visual Science, University of Rochester, Rochester, NY 14627-0270, USA. jcarroll@cvs.rochester.edu
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MeSH Terms
Descriptor/Qualifier:
Adult
Color Perception / physiology*
Color Vision Defects / genetics*
Electroretinography
Genetic Variation
Genotype
Humans
Mutation
Optics and Photonics*
Retina / cytology,  metabolism
Retinal Cone Photoreceptor Cells / cytology,  metabolism*
Retinal Pigments / genetics*
Chemical
Reg. No./Substance:
0/Retinal Pigments
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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