Details

Autor(en) / Beteiligte

• Carroll, Joseph
• Neitz, Maureen
• Hofer, Heidi
• Neitz, Jay
• Williams, David R.
• Nathans, Jeremy

Titel

Functional Photoreceptor Loss Revealed with Adaptive Optics: An Alternate Cause of Color Blindness

Ist Teil von

• Proceedings of the National Academy of Sciences - PNAS, 2004-06, Vol.101 (22), p.8461-8466

Ort / Verlag

United States: National Academy of Sciences

Erscheinungsjahr

2004

Quelle

Free E-Journal (出版社公開部分のみ）

Beschreibungen/Notizen

• 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 has been discounted. We confirm that remarkably, this loss of one-third of the cones does not impair any aspect of vision other than color.