Guanylyl Cyclase Gene is the Disease Locus in the rd Chicken
The first description of the retinal degeneration (rd) chicken appeared in the literature in 1980. From the early 1980s to 1991, Ulshafer and his colleagues carried out detailed electrophysiological, morphological, and biochemical analyses of the retinas of these animals, the results of which provided a comprehensive description of the pathology of this retinal degenerative disease, and the first clues concerning the identity of the rd gene. In 1990, we embarked on a series of molecular studies that would eventually lead to the identification of the rd gene in 1998. As a result of the tireless efforts of many individuals, the rd chicken is now recognized as a model for Leber congenital amaurosis, Type 1, a devastating human disease that causes blindness in newborn infants. With the identity of the rd gene in hand, it seems appropriate to review the nearly two decades of research that has been conducted on this model, research that has provided a firm foundation for our current efforts to restore sight in these animals using somatic gene therapy.
KeywordsRetinal Pigment Epithelium Outer Segment Guanylate Cyclase Photoreceptor Cell Guanylyl Cyclase
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