Genomics and the Eye

Abstract

The eye has figured prominently in the development of genetic and genomic approaches to human disease. Vision is critically important to most activities of daily living, and cures for blindness will remain an important goal for medicine for many years to come. Physicians and scientists will be aided in the pursuit of this goal by the optical and anatomic accessibility of the organ, as well as by the large amount of visual cortex devoted to the interpretation of the neural information originating in the retina. That is, a patient with a disease that injures only a few thousand neurons in the fovea can describe this injury to his physician in great detail, and the physician can in turn view these neurons in the living patient at microscopic resolution by taking advantage of the near perfect optics of the anterior portion of the eye. These natural optics also contribute to a surgical accessibility that is unmatched by any other part of the central nervous system. This latter attribute will be a tremendous advantage for clinician scientists seeking to translate all the recent progress in gene-transfer and stem-cell biology into effective therapies for their patients with genetic eye diseases.