Journal Article

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

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

2004

Overview

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.

• Publisher: National Academy of Sciences,National Acad Sciences
• Subject: Adaptive optics / Adult / Biological Sciences / Cells / Color / Color blindness / Color Perception - physiology / Color vision / Color Vision Defects - genetics / Electroretinography / Eyes / Eyes & eyesight / Genes / Genetic Variation / Genotype / Genotype & phenotype / Genotypes / Humans / Imaging / Mosaic / Mutation / Optics / Optics and Photonics / Pigments / Retina / Retina - cytology / Retina - metabolism / Retinal Cone Photoreceptor Cells - cytology / Retinal Cone Photoreceptor Cells - metabolism / Retinal images / Retinal pigments / Retinal Pigments - genetics / Spectral sensitivity