Gene Behind Rare Eye Disease in Dachshunds Discovered

If applicable to humans, could lead to new treatments, study says

By Amanda Gardner
HealthDay Reporter

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THURSDAY, Aug. 7 (HealthDay News) -- Scientists have discovered a gene mutation that may cause a rare eye disease in dogs, and possibly humans as well.

A specific variation on chromosome 5 was associated with cone-rod dystrophy (CRD) in wire-haired dachshunds, according to a study in the Aug. 8 online issue of Genome Research.

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If the mutation is also linked to the condition in humans, and researchers think it might be, this could point the way to new therapies.

"Once you know the gene that's responsible, you can potentially figure out the proteins that are defective and possibly treat these patients," said Dr. Robert Cykiert, an associate professor of ophthalmology at New York University Langone Medical Center in New York City. "Until you know what the defect is, you can't devise any treatment. Once you've at least identified a defective gene, you can work on potential treatments."

"The implications for dogs is that we have the possibility to reduce the frequency of this mutation in the population, and in this way immediately avoid new cases of CRD caused by this mutation," said senior study author Frode Lingaas, a professor at the Norwegian School of Veterinary Science in Oslo. "For humans, the study may help in the identification of the etiology of some cases of CRD, and the dog could also be an extremely valuable model for the development of new treatment schemes for CRD [including gene therapy]."

"In the future, if they could use this model for gene therapy to see whether or not they can replace the gene product with a good protein that actually works in the retina, and they can restore vision in this dachshund, that would be helpful if we were to find same gene defect in humans. That would be good news; we could potentially use gene therapy in humans to restore vision," said Dr. Robert H. Rosa Jr., a professor of surgery at Texas A&M Health Science Center College of Medicine and vice chairman for research in ophthalmology at Scott & White Eye Institute in Temple.

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