Cookie use on MRCVSonline
We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive all cookies.
If you would like to forward this story on to a friend, simply fill in the form below and click send.

Your friend's email:
Your email:
Your name:
 
 
Send Cancel

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.”

Become a member or log in to add this story to your CPD history

Cats Protection launches Christmas animation

News Story 1
 Leading feline charity Cats Protection has launched a heartwarming Christmas animation to raise awareness of the important work it does. The animation is based on a true story of a kitten that went missing earlier this year. Freezing cold and hungry, the kitten was dumped in a box on a roadside and somehow became separated from her brother and sisters.


Thankfully there is a happy end to this tail, and Libby - now named Misty - was eventually reunited with her littermates. Misty’s owner, Amy Smith, said: “Misty has settled amazingly well into our home, she has found a best friend in my daughter Lily and likes to follow her around the house. She also loves to chase bugs in the garden. We feel very lucky to have her.” 

Click here for more...
News Shorts
WSAVA launches certificate programme focusing on companion animals in One Health

The first certificate programme focusing specifically on the role of companion animals in One Health has been launched by the One Health Committee (OHC) of the World Small Animal Veterinary Association (WSAVA).

The online programme, which is free of charge for WSAVA members, has been developed in recognition of the growing impact of companion animals in human society. Pet ownership is becoming more popular globally, and this has increased the implications for One Health, regarding the human-companion animal bond. The WSAVA OHC hopes that this course will bridge the knowledge gap between veterinary surgeons and human physicians. New modules are being added weekly, with a total of 20 modules expected to be available by early 2020.