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World-first model of rare retinal disease developed in Australia

01/03/2019By Myles Hume
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An Australian study has resulted in the development of the world’s first laboratory model of cone dystrophy with supernormal rod response (CDSRR), a rare form of retinal disease.

Researchers at the Lions Eye Institute (LEI) and The University of Western Australia made the breakthrough using a mouse model, which they believe will help pave the way for human treatments of the disease, including gene therapy.

CDSRR is an inherited disease and emerges in childhood, eventually causing life-long visual loss. Symptoms include central vision loss, extreme sensitivity to light, night and colour blindness and blind spots. The condition affects one in a million people and there are no available therapies.

Emeritus Professor David Hunt and Dr Livia Carvalho, who led the research, have developed a human-like model of the disease. Their findings have been published in eNeuro.



“We will be able to use this to validate treatment strategies for CDSRR, better understand the physiology of vision and the pathophysiology of this disorder.”
Livia Carvalho, UWA

“We believe this model closely matches what we see in humans with CDSRR and we will be able to use this to validate treatment strategies for CDSRR, better understand the physiology of vision and the pathophysiology of this disorder,” Carvalho said.

According to the researchers, CDSRR is diagnosed using an electroretinogram test, which measures the electrical responses of various cell types in the retina. Affected patients show very depressed rod and cone cell activity, which switches to a supernormal rod response when presented with a very bright flash of light.

“So far, CDSRR is the only vision loss disorder that can be diagnosed without genetic screening because the supernormal electroretinogram response is unique to this disease,” Hunt said.

“With this new study we have now confirmed that this is also the case in our laboratory model of CDSRR.”

Carvalho add: “Due to the recessive inherited nature of CDSRR and the type of cells that are affected, we believe this disease would be an ideal candidate for a gene therapy based treatment.”

The UK-based Wellcome Trust Sanger Institute originally developed the model, which Hunt then brought to Western Australia in 2013.

In the UK, Hunt led the first study that linked the genetic cause of CDSRR to mutations in a gene called KCNV2. The gene specifies a channel responsible for the movement of potassium ions across cell membranes in the retina. Since the publication of Hunt’s original study in 2006, around 40 different disease-causing mutations have been identified.

 

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