17 January, 2026
Hot Off The Press
A very Happy New Year to you all,
and may 2026 bring us another step closer to a cure for all IRDs.
I found a couple of articles over the Christmas period that were interesting…..
TRPM1 loss drives rhythmic activity across retinal diseases
Rhythmic electrical activity in the retina (known as pathological oscillations) has been observed in several eye diseases, including congenital stationary night blindness (CSNB) and retinitis pigmentosa (RP). These oscillations interfere with the normal transmission of visual information to the brain, often causing degraded or distorted perception. Although scientists have long known that such oscillations occur in retinal ganglion cells (RGCs), the neurons responsible for sending visual signals to the brain, the cellular mechanism that drives this rhythmic activity has remained elusive.
Retinal organoids provide a powerful tool to diagnose and study Leber congenital amaurosis
Retinal “organoids” are small 3D structures of retinal cells resembling the human retina. They are being made and used in a Sydney lab to assess VUS’s (Variants of Uncertain Significance).
There are gene variants that we know are benign, and gene variants that we know cause dysfunction but there still more gene Variants of Uncertain Significance. The lab is working currently on the LCA VUS genes and are discovering new targets for future specific treatments.
I am sure I will have more exciting snippets for you next month.
Cheers to you all
Cathy
Guest writer – Dr Catherine Civil
My name is Dr Catherine Civil. I have been associated with Retina Australia since the early 2000s. At that time, they were called WARPF, or the WA Retinitis Pigmentosa Foundation. WARPF were raffling a car in a shopping centre, and it caught my eye because my dad and my uncle both had Retinitis Pigmentosa. Being a doctor and a parent, I had a particular interest and awareness, not just of the disease, but of the fact that there was a significant risk that I or my children or my relatives might have inherited it.
I turned up at an AGM and found myself on the Board and engaged in fundraising. I spent several years on the Board and met some wonderful people, and I was even Chairman for a couple of years. When I left, I started writing the “Hot off the Press” research update column for the newsletter.
I arrived from the UK in the early 1990s with my husband and twin baby girls to live in Perth for a year for a bit of sunshine and fun, and we find ourselves still having fun in WA 30 years later, and with a grown son as well.
