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Gene mutation causes sight loss in dogs and humans
In healthy dogs, ABCA4 plays a vital role in the normal visual cycle when light hits the eye.
Study finds ABCA4 mutation causes retinal degenerative diseases 

Scientists have identified a genetic mutation that causes retinal degenerative diseases in both humans and dogs.

In children and young adults, Stargardt disease is one of the most common types of inherited retinal degenerative disease. Now, an international research team has found that a mutation in the ABCA4 gene causes a similar disease in Labrador retrievers.

Published in PLOS Genetics, the findings could help to breed healthy dogs and develop novel treatment for human patients.

Labradors can suffer from inherited conditions such as progressive retinal atrophy (PRA), which is caused by the degeneration of photoreceptor cells. In humans, this is called retinitis pigmentosa (RP).

Until now, only one mutation in the PRCD gene had been found to cause inherited retinal degeneration in Labradors. But 10 years ago a dog was found to have visual impairment not caused by the previously known mutation.

In healthy dogs, ABCA4 plays a vital role in the normal visual cycle when light hits the eye. According to the new findings, dogs affected by the mutation cannot produce a functional ABCA4 protein. Toxic byproducts produced when the photoreceptors detect light cause cell death and lead to visual impairment.

Mutations in the ABCA4 gene are the major case of Stargardt disease in humans, which affects around one in 8,000-10,000 children and young adults. Scientists say disease progression appears to be similar in Labradors.

Study director Tomas Bergström said: “We hope that the results of this study will not only support breeding of healthy dogs, but also enhance the development of new treatments for children and young adults with Stargardt disease.”

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Vets to run marathon for World Animal Protection

News Story 1
 Two recently graduated veterinary surgeons will be running the London Marathon in April to raise money for the charity World Animal Protection.

Alex Bartlett and Maeve O'Neill plan to run the race together if they are given the same start times.

Dr O'Neill said: "You're always limited in what you can do to help animals, so it is nice to raise money for a charity that helps animals around the world."

Dr Bartlett added: "I have never run a marathon before and am excited to run my first one for such a good cause!"

Both Dr Bartlett and Dr O'Neill have fundraising pages online. 

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News Shorts
BSAVA releases new Guide to Procedures

The British Small Animal Veterinary Association (BSAVA) has published a new edition of its Guide to Procedures for Small Animal Practice.

It has added four new procedures; cystostomy tube placement, endotracheal intubation, point-of-care ultrasound and wet-to-dry dressings.

BSAVA says that it is an essential step-by-step guide to diagnostic and therapeutic procedures performed in practice. The textbook includes new images and illustrations, as well as high-definition videos for use prior to procedures.

Nick Bexfield and Julia Riggs, editors of the new edition, said: "We have built upon the success of the previous editions by responding to the feedback received from the BSAVA readership, and hope this new guide helps to further increase the confidence and accuracy with which these procedures are performed."

Print copies are available in the BSAVA store, with a digital version in the BSAVA library.