Oxyopia Abstract

March 21, 2008
Friday, 4:00 PM
489 Minor Hall

Joseph Carroll, PhD
Assistant Professor of Ophthalmology and Biophysics, Medical College of Wisconsin, Milwaukee
Host: Austin Roorda

Title

Visualizing the effect of disruptions in the cone pigment genes on the organization of the cone mosaic

Abstract

A common misconception is that inherited color vision defects are benign; that is they are not believed to be associated with any retinal disturbances other than a loss of color discrimination.  Using molecular genetic analysis of the cone pigment genes and high-resolution imaging of the photoreceptor mosaic, we have redefined the genotype-phenotype relationship for inherited color vision defects. Contrary to conventional wisdom, a number of disruptions in the cone pigment genes have now been associated with significant cone degeneration, which is largely undetectable with current clinical techniques. These studies have improved our understanding of the etiology of "classical" color vision defects and demonstrate the advantage of a multidisciplinary approach to studying other retinal degenerations.  Such retinas provide the opportunity to probe the functional deficits associated with very specific degrees of cone degeneration; offering unique insight into normal visual function.

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