31/03/2026
Retinitis pigmentosa affects roughly 1 in 4,000 people in the UK. That's around 25,000 individuals watching their peripheral vision narrow, their night sight fade, often from adolescence onward. For decades, the clinical conversation around RP was largely about managing expectations. Tinted lenses for photophobia. Low vision aids. Referral to sight loss charities.
That conversation is changing, and the pace is genuinely remarkable.
Luxturna opened the door for RPE65-associated retinal dystrophy, but the pipeline behind it has expanded well beyond a single gene target. AGTC and others are running trials targeting RPGR mutations on the X chromosome — one of the more common genetic causes of RP. Antisense oligonucleotide therapies are being explored for USH2A-related disease. And optogenetic approaches, which bypass damaged photoreceptors entirely by making remaining retinal cells light-sensitive, are moving through Phase I/II trials.
What does this mean for us in primary eye care? Quite a lot, actually.
Identifying RP subtypes early and accurately matters more now than it ever has. Genetic testing isn't just academic — it determines eligibility for current and emerging treatments. Our role in spotting the early signs on widefield imaging and OCT, documenting progression patterns, and ensuring patients reach the right specialist pathway at the right time has become genuinely consequential.
We've always monitored RP patients closely, tracking structural changes on our Spectralis and Optos systems. But now there's a reason beyond documentation. There's a therapeutic horizon that didn't exist even five years ago.
Does your optometrist know your genetic subtype? If you've been diagnosed with RP and haven't had genetic testing, it's worth asking the question.
