Research in Dogs Results in Treatment for Blindness in Humans


BriardResearch funded by the AKC Canine Health Foundation and the Briard Club of America identified a genetic mutation which has recently led to the development of a gene therapy to improve the eyesight in humans with one of the most severe forms of retinal degeneration, Leber's congenital amaurosis (LCA). LCA is marked by severe loss of vision and nystagmus that begins in early infancy and childhood and progresses to blindness by the third or fourth decade of life.

In 1998, Dr. Gustavo Aguirre at Cornell University College of Veterinary Medicine, James A. Baker Institute for Animal Health identified the mutation in the RPE65 gene which causes congenital stationary nightblindness in Briards, large herding dogs developed in France. This genetic mutation is the same as in humans with Type 2 LCA which accounts for about 6% of all LCA cases.

The discovery of the RPE65 gene mutation led to the development of a gene therapy first performed in dogs and currently performed in humans. In the gene therapy experiments, a normal functioning RPE65 gene was spliced into a viral vector, and the vector was then injected into the eye. While the procedure is not routinely performed in dogs since a genetic test is available enabling selective breeding to eliminate this disease, the therapy may soon become widely available to humans. The research team headed by Jean Bennett, MD, PhD, who is the FM Kirby Professor of Ophthalmology at the University of Pennsylvania School of Medicine, has successfully completed a phase 1 trial. They will also be moving forward with a phase 3 trial, which they hope to complete in 2 years, with the goal of obtaining licensing from the US Food and Drug Administration for the gene therapy treatment.

This work was funded by AKC Canine Health Foundation Grant 1273.

Scientific publication:

Gustavo D. Aguirre, V.B., Sue Pearce-Kelling, Kristina Narfström, Kunal Ray, Gregory M. Acland, Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. Molecular Vision, 1998. 4(23).



Help Future Generations of Dogs

Participate in canine health research by providing samples or by enrolling in a clinical trial. Samples are needed from healthy dogs and dogs affected by specific diseases.

Learn How to Help

Get Canine Health News:
Please leave this field empty
American Kennel Club Canine Health Foundation, Inc

8051 Arco Corporate Dr.
Suite 300
Raleigh, NC 27617

Tax ID# 13-3813813

   2020 GuideStar logo

© 2021 AKC Canine Health Foundation | Privacy Policy | Site Map

Site by Blackbaud, Inc.