There are several similar cases around the world, but it's in Australia that it all started. In 2004, Beth White consulted her doctor because, since adolescence, she had been gradually losing her sight. Four years later, her children began to develop the same symptoms. The cause of this mystery? A very rare genetic disease, called retinal dystrophy.
‘We knew Beth had retinal dystrophy, but she also had strange symptoms like fever, headaches, and optic nerve disorders,’ described Pr. Robyn Jamieson, lead author of a scientific study on this rare medical case. ‘We immediately thought that a new gene was involved, because of these unusual features.’
A long way to treatment
After conducting analyses, on families concerned as well as on laboratory rats, the geneticists found the source of the problem: the ALPK1 gene.
‘We found the same variant of the same gene in the five families with this strange disease,’ reported the researchers. ‘By observing this gene, we have found that ALPK1 is involved in signalling pathways of cells, and plays a role in inflammation.’
For the researchers, finding the source of this rare genetic disease is a real victory... although there is still a long way to go before they can find a cure. ‘Living with a visual disability on a daily basis is constant work, and I do not want that for my children,’ says Beth White.