Daschund Genetic Blindness Discovery Made

A genetic mutation in dachshunds may help to reveal the cause of human inherited blindness according to researchers.

Dachshunds are prone to similar conditions to cone-rod dystrophies which cause retina loss. Now researchers have discovered a gene which may play a role.

According to the periodical, Genome Research research on equivalent gene in humans could lead to a breakthrough.

Other researchers have already identified genetic variations which seem to contribute to these conditions, but the latest research suggests that its genetic causes could be complex.

Genetic tests

Inherited vision disorders are more common in dogs, and Dr Frode Lingaas of the Norwegian School of Veterinary Science isolated a particular part of a canine chromosome, and then a particular gene, called NPHP4, a portion of which had been deleted in affected dachshunds.

Dr Lingaas said: “This gene has been associated with a combination of kidney and eye disease in human patients.

“Here, we found a mutation which affects only the eyes, suggesting this gene might be a candidate for human patients with eye disease only.”

He said that, even in the dog world, this could be a useful discovery, opening the way to genetic tests to help breed out some disorders.

However, he said the findings could make the development of human treatments easier.

Professor David Hunt, from the Institute of Ophthalmology, said that the finding could help scientists understand cone-rod dystrophies in some people.

Some, he said, were looking for ways to reverse similar conditions using gene therapy.

He said: “It is a wide spectrum of conditions, not just one.

“The problem is that there is a wide range of underlying defects and we haven’t got a magic bullet which can target these all at once.”

Sonal Rughani, from the Royal National Institute of Blind People, said: “This research is really exciting as it helps our understanding of the genetic basis of cone-rod dystrophies in humans.

“Following significant further research, this technique could facilitate the development of new treatments in the future.”

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