Big thank you 🙏 to Julio Corral-Serrano @cheethamlab.bsky.social @carlorivolta.bsky.social @hardcastlelab.bsky.social @elfridedebaere.bsky.social & many colleagues. Funded by @moorfieldsbrc.bsky.social @wellcometrust.bsky.social ‪@iobswiss.bsky.social‬ @ugent-fge.bsky.social JTC EJPRD Solve-RET FWO

Thank you Elfride and team for all the help with this work! 🙏

Thank you to our funders @moorfieldsbrc.bsky.social @wellcometrust.bsky.social moorfields eye charity and other funders, the patients and their families for making this research possible.

This was a great collaborative effort from the European Retinal Disease Consortium, @elfridedebaere.bsky.social @carlorivolta.bsky.social @cheethamlab.bsky.social @hardcastlelab.bsky.social and many other colleagues. Grateful to be part of it.

👁️ The phenotypic variability associated with this ARL3 variant shows that caution might be required in diagnosing individuals with ARL3-associated retinopathy.

⚡ Our work highlights that ARL3 is crucial for proper cilia function in the retina (RPE and photoreceptors)

🧪 We modelled this variant for the first time using human stem cell derived RPE and retinal organoids, showing ciliary trafficking defects that are not present in other cell types (like skin fibroblasts).

🔬 We report a novel variant in ARL3, p.(Gly70Glu) or G70E, that causes non-syndromic autosomal dominant IRD in ten individuals from five different families.

📍 The clinical presentation of these individuals is variable, ranging from rod-cone dystrophy to cone-rod dystrophy with photophobia.

Thank you so much, Mike. This work wouldn't have been possible without all your help!