03094-MOU: Identification of Gene Mutation Underlying Ocular Melanosis in Cairn Terriers

Abstract

Ocular Melanosis (OM) is an important cause of vision loss and pain in the Cairn Terrier breed. It is an inherited condition and there is a need for a genetic test to allow dog breeders the opportunity to eradicate the condition. The condition develops in both eyes and results from a proliferation of pigmented cells within the eye. The abnormal cells can block fluid drainage from the eye resulting in increased pressure within the eye (glaucoma). This can occur from as early as seven years of age, but not all affected dogs will progress to develop glaucoma. This type of glaucoma is difficult to treat and save vision and prevent pain and loss of the eye. Investigators have collected DNA samples from a large number of affected dogs and used them to identify the location of the disease-causing DNA change. Despite “mapping” the region of the genome likely to harbor the disease-causing DNA mutation, they have not yet found the DNA change. To develop a DNA-test for breeders and to understand the disease mechanism, which may suggest some therapy approaches for affected dogs, the DNA mutation needs to be identified. The researchers’ long-term aim is to provide genetic testing that allows breeders to eradicate the condition. To identify the DNA variation that causes ocular melanosis, the research team will use the latest DNA sequencing technologies that are currently being used to improve the sequence data they have for the dog genome. The hope is that this approach will help identify disease-causing DNA variants that have previously remained elusive. 

Funding for the research is provided through the generosity of the Foundation of the Cairn Terrier Club of America and the AKC Canine Health Foundation, which will oversee grant administration and scientific progress.

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