Gene Behind Rare Eye Disease in Dachshunds Discovered

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Cone-rod dystrophies are a relatively rare family of eye diseases involving the progressive deterioration of cone function in the retina.

The retina of the eye, which receives visual images then transmits them to the brain, has two main components: rods and cones, Cykiert explained. "The cone cells are basically responsible for your very sharp, central vision. That's what allows you to read and see things far away and also provide you with color vision," he explained. "The rods basically provide you with your peripheral or side vision, and with your nighttime vision. At night, your cones don't work too well. Your rods are what enable you to get around in the dark."

People with CRD develop dayblindness, which can progress to total blindness.

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CRD does run in families and, while a few genes have been associated with the condition, others are likely implicated, the authors stated.

One gene mutation had been linked with CRD in miniature long-haired dachshunds, but genes have not yet been implicated in wire-haired dachshunds and pit bull terriers, breeds which also can develop CRD.

Researchers at the Norwegian School of Veterinary Science and the Broad Institute of MIT and Harvard did genome-wide analyses on 13 wire-haired dachshunds with CRD and 13 without the disorder.

A mutation in a portion of the nephronophthisis 4 (NPHP4) gene on chromosome 5 was deleted and appears to be responsible for hereditary CRD in this dog breed. Interestingly, the same gene has been linked with a combination of eye and kidney disease in humans.

The findings could help dogs and, hopefully, one day, humans.

"It may not be the same mechanism in humans, but they think that it is," Cykiert said. "This is going to lead researchers in a direction where they know what to look for."

More information

Macular Degeneration Support has more on CRD.

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