Sunday , July 25 2021

Scientists are dealing with rare diseases of the retina in a unique research project


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Researchers from the Lions Eye Institute (LEI) and the University of Western Australia are pioneering the study of the world's first and only laboratory model of rare retinal diseases, paving the way for new ways of treatment.

Congenital Dystrophy with Hypersensitive Response (CDSRR) is an inherited disease that occurs in childhood and will ultimately lead to loss of vision throughout life. Symptoms include loss of central vision, extreme sensitivity to light, night and color blindness and blind spots.

About one in a million people are affected by the CDSRR and currently there are no therapies available.

A team of researchers from LEI and UWA led by Professor David Hunt and Dr. Livia Carvalho published new research in eNeuro which describes and validates a laboratory model of CDSRR.

"We believe this model is consistent with what we see in people with CDSRR and we can use it to validate CDSRR treatment strategies, a better understanding of the physiology of the vision and the pathophysiology of this disorder, Dr. Carvalho.

The model was developed by the Welcome Institute in Sanger and brought to Western Australia by the United Kingdom Professor Hunt in 2013.

While in the United Kingdom, Professor Hunt led the first study to link the genetic cause of CDSRR to mutations in a gene called KCNV2. The gene defines a channel responsible for the movement of potassium ions through the cell membranes in the retina.

"Since the publication of our initial study in 2006, about 40 different disease-causing mutations have already been identified globally," Professor Hunt said.

CDSRR is diagnosed by a test called an electroretinogram that measures electrical responses to different cell types in the retina. Affected individuals show a lot of depressed cell activity and a cone cell that turns into a supernatural rod response when presented with a very bright flash.

"For the time being, CDSRR is the only visual disturbance that can be diagnosed without genetic screening because the supernatural electroretinographic response is unique to this disease," said Professor Hunt.

"With this new study, we have now confirmed that this is also the case with our CDSRR laboratory model."

As the only group in the world working with this unique model, Professor Hunt and Dr. Carvalho are at the forefront of developing and testing treatment strategies.

"Because of the recessive hereditary nature of the CDSRR and the type of affected cells, we believe this disease will be an ideal candidate for treatment based on gene therapy," said Dr. Carvalho.

"We are currently working to attract resources to continue our work, not only to test the treatment, but also to understand the biology behind the supernatural response to rods."

Hereditary studies of retinal disease can result in treatment

More information:
Nathan S Hart et al. The role of Kv8.2 and Kv2.1 potassium channel proteins in retinal vision and disease: insights from the murine gene knockout mutation study, eNeuro (2019). DOI: 10.1523 / ENEURO.0032-19.2019

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University of Western Australia

Scientists are dealing with rare retinal diseases in a unique research project (2019, February 25)
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