15 February, 2026
Hot Off The Press
World Research Summary
by Dr Catherine Civil.
I found some more fun and interesting articles this month.
The rapid progress in research about IRDs is unprecedented.
Of course, the more we know, the more we realise that we don’t know, but
real treatments are finally starting to pop up.
Read on …..
TRPM1 loss drives rhythmic activity across retinal diseases
Rhythmic electrical activity in the retina (known as pathological oscillations) has been picked up in several eye diseases now, including some IRDs, and these oscillations affect visual messages travelling to the brain and affect the sight. The TRPM1 gene seems to be associated with these oscillations.
We don’t quite know how to interpret this but one day we will.
Retinal organoids provide a powerful tool to diagnose and study Leber congenital amaurosis
Retinal “organoids” are small 3D creations of retinal cells grown in the lab which resemble the human retina. They are being made and used in a Sydney lab to assess VUS’s or genetic ‘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 (Lebers) VUS genes using these more easily accessible organoids and are discovering new targets for future treatments.
The future of ocular gene therapy?
Adverum Biotechnologies has developed an exciting long-acting eye injection which could be a game changer for all intraocular gene therapies.
Their lead product is ‘Ixo-Vec’ which they are trialling for wetAMD. They are now on to a phase 3 trial. Fabulous. The single injection produces continuous and stable intraocular levels of aflibercept which is a common Anti-VEGF. No repeat injections are needed with his new technique, and the visual results seem to be better than with the usual repeated injections. This is a real gamechanger. The trial is being fast tracked by the US, Europe and the UK, so we will watch its progress with bated breath.
Specific genetics can predict severe AMD
The most severe, sight-threatening forms of AMD might now be more predictable with some specific genetic changes which have been identified. This all comes down to the presence of reticular pseudodrusen deposits on the retina. (little yellow lesions), and the genes associated with them. These pseudodrusen seem to drive vision loss and are found on the retina of up to 60 per cent of people with advanced AMD. The AMD group who had the associated genes also seemed to have thinner retinas. Interesting. More work needed.
A new way of assessing retinal health
Researchers have recorded a tiny ‘twitch’ in living human and rodent eyes at the exact moment a rod photoreceptor detects light. The rod photoreceptors are the night vision cells which make up 95% of the retinal photoreceptors. This discovery is a first. The twitch was identified with the help of a crazily clever brand-new machine called an ‘optoretinography’, or ‘ORG’ machine. The ORG machine has identified a rapid contraction of up to 200 nanometres within roughly 10 milliseconds of light reaching the rod cell. This is an unbelievably fast and tiny contraction to have detected, and is what initiates the pathway to vision. They found that rod deterioration in retinal diseases is associated with slower twitch speeds.
Rod photoreceptors are often the first cells to deteriorate in diseases that cause blindness such as AMD and RP, and this can be detected earlier now with ORG due to a slowing twitch speed in the photoreceptors. Consequently, this super-sensitive and non-invasive machine should make it easier to diagnose retinal diseases, and to track treatment responses. The machine is not restricted to looking at rods but can assess other retinal cells too. Watch this space!
Non-coding RNA mutations unveiled as new cause of retinitis pigmentosa
Although more than 100 genes have been discovered that are associated with RP, there are still 30-40% of those affected who don’t know their genetic cause even after extensive DNA testing. So, researchers have started to widen their search and have discovered, after looking at almost 5000 individuals, that some 158 of them have changes in their RNA rather than DNA. Curious hey?
The RNA molecules are involved in splicing the DNA before it makes proteins, so defects in the RNA can have major effects. This looks like a whole new avenue of research to watch out for.
What a good variety of articles!
It’s always fascinating to see what’s around.
Till next time …
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.
