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

Big Butterfly Count returns

News Story 1
 The world's biggest survey of butterflies is back for 2020!

Butterfly Conservation's Big Butterfly Count launches on Friday, 17 July and will run until Sunday 9 August. Members of the public can get involved by downloading the Big Butterfly Count App or recording results on a downloadable sheet available from bigbutterflycount.org/.

'It's a fantastic activity for people from three to 103 years and we'd encourage everyone to take 15 minutes in an appropriate outdoor space during sunny conditions to simply appreciate the nature around them and do their bit to help us understand butterfly populations,' said a Butterfly Conservation spokesperson. 

Click here for more...
News Shorts
WellVet reopens ticket sales to online conference platform

Following the success of its online conference, the organisers behind WellVet Weekend have re-opened ticket sales to allow new delegates to access session recordings and its online networking platform.

The day-long conference saw more than 360 veterinary professionals mix activity sessions with personal development CPD, all hosted within a virtual conference platform. Now, with more than 500 minutes of CPD available, the resource is being re-opened to allow full access to the session recordings until May 2021.

Sessions are aimed at providing delegates with a range of proactive wellbeing tools to explore to find ways of improving their mental and physical health. Tickets are limited in number and on sale at wellvet.co.uk until 30th August 2020.