Cracking the code to inherited retinal disease

26 November 2019

The application of gene therapy will soon provide benefits to those diagnosed with certain forms of inherited retinal disease.

“It is a very exciting time," Centre for Eye Research Australia (CERA) researcher and Royal Victorian Eye and Ear hospital vitreoretinal surgeon Dr Tom Edwards said.

"The eye is an ideal organ in which to lead the way in this technology because there are a number of single gene disorders that cause inherited retinal disease,” Tom said.

Presently, the drug Luxturna is targeted for the treatment of retinis pigmentosa (RP) but only available in the USA and Europe.

"Luxturna is made specific for a variety of RP which compromises a small subset of patients,” he said.

“The company responsible for bringing it to Australia are in negotiations with the federal government. So that’s going to come in the next year or two.”

This form of gene therapy is a beacon of light to those in search of an answer.

“It’s been for a long time a dead-end diagnosis to be told, "well, you’ve got RP and there’s nothing that can be done". Now, it’s a genetics revolution that has come to medicine. Ophthalmology is really at the forefront of that in terms of converting it to therapeutics.”

You can listen to a full interview with Dr Edwards discussing gene therapy and retinal disease on the November 18 episode of Talking Vision.

Author credit: Priya Mohandoss