Eye condition discovery could lead to treatment

12 April 2019

Almost 15 years ago while working as a Clinical Geneticist at The Children's Hospital at Westmead, Professor Robyn Jamieson was introduced to the White family.

Mum, Beth had come to her about her vision loss then, in 2015 it was discovered that Beth's three childrens were also showing signs of vision loss. 

“I had seen the family and we knew that Beth had retinal dystrophy, but she also had these other unusual symptoms, including fever and headaches and issues in the optic nerve,’’ Prof Jamieson said. “We suspected there was a novel gene involved because of the unusual features.’’

Professor Jamieson also works as Head of the Eye Genetics Unit at The Children's Medical Research Institute and during the course of her work, she started speaking to researchers around the world, and so far five families have been identified around the world with the same symptoms.

“It turned out it did sound like they had the same condition, and we ended up finding the same variant in the same gene.’’

The gene where they found the variant is called ALPK1, and the new condition has been named ROSAH Syndrome.

“My lab also did the work looking at the expression of the gene and our latest, results suggest that it is involved in signalling pathways of cells, with a likely role in inflammation.’’

Beth White, who started to lose her vision as a teenager, wants her children to have a different life.

“Living with a visual impairment, every day is hard work and I don’t want that for my kids,’’ Mrs White said. “Every parent wants to give their kids every opportunity for a better life, and I can’t imagine the impact. Even if we could stabilize their vision, if they could hold on to what they have now, it would be a miracle.

“Hope is everything, knowing that there are people out there interested means the world to us.’’

Professor Jamieson said discovering the syndrome supported what the family had been saying for many years.

“The families have experienced many years of doctors not knowing what was happening, so this gives understanding for everyone. Now the families and their doctors know it is a syndrome that other people have as well.

“It also means there is the prospect of developing a genetic or other therapy, as we are able to do more investigation of the function of the gene. This could present an opportunity to think about a potential treatment.  And that’s really exciting. It certainly creates hope.’’

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