Imaging the Human Retina with Adaptive Optics: Assessing Development and Disruption

High-resolution imaging with adaptive optics has literally changed the way we see the retina.  Pathology can now be assessed on the cellular level, and numerous sub-clinical phenotypes have been uncovered.  This talk will discuss on the use of adaptive optics imaging to provide insight into foveal development, both using the normal retina and cases where development has been disrupted (albinism).  In addition, I will discuss recent advances in our understanding of color vision defects.  We have assembled a collection of individuals with various genetic mutations that all result in some type of cone dysfunction.  Given the involvement of a single genetic locus, we have begun to construct a high-resolution genotype-phenotype map for these conditions.  As a result, our understanding of the etiology of some of these conditions has improved – a requisite first step for identifying therapeutic opportunities for individuals with these disorders.   The future clinical applications of adaptive optics imaging will be discussed, from a practical (as opposed to technological) perspective.