1273: Molecular Ophthalmology of Progressive Retinal Atrophy

Grant Status: Closed

Grant Amount: $219,874
Dr. Gustavo D. Aguirre, VMD PhD; Cornell University
July 28, 1997 - July 27, 2000
Breed(s): Briard, Siberian Husky, Samoyed
Research Program Area: Prevention

Project Summary

The major aim of this project was to identify genes responsible for the different breed-specific forms of progressive retinal atrophy (PRA) and related diseases. In order to accomplish this, researchers laid important groundwork by identifying and cloning many of the genes that are present in the retina and known to cause disease in other species. Major accomplishments of this project included identifying the gene and the specific mutation that causes congenital stationary night blindness in Briards. As a result, a genetic test was developed for this recessive gene and now carriers can be identified and bred to normal dogs without producing affected progeny. Subsequent to the identification of this gene, gene therapy researchers at the University of Pennsylvania inserted this gene into the eyes of blind puppies and restored their sight. This is the first time this therapy has been successful in a mammal larger than a mouse. This finding may also have gene therapy potential for application in blind children. In addition, the researchers mapped the gene that causes X-linked PRA in Samoyeds and Siberian Huskies. This groundbreaking work allowed the development of a DNA test to identify carriers.


- Aguirre GD, Baldwin V, Pearce-Kelling S, Narfstr�m K, Ray K, Acland GM. Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. Mol Vis. 1998 Oct 30;4:23. - Zeiss CJ, Acland GM, Aguirre GD, RayK

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