A great collaborative study of a novel adult-onset maculopathy that shows similarities with dry AMD with Eline Van Vooren, Filip Van den Broeck, Michael T. Redmond, Julie De Zaeytijd, Bart P. Leroy, Miriam Bauwens @elfridedebaere.bsky.social & many colleagues
#RPE65
#dominant
#maculopathy
#AMD
🧬 We are excited to share our preprint on novel RPE65 variant p.(E519K), which causes a novel dominant late-onset maculopathy in over 80 affected individuals of European ancestry! 🧬
You can read the full article here: lnkd.in/ew_nP2NN
#RPE65 #dominant #macula #IRD #RPE #Belgian 🇧🇪
Gene therapy: "Now I can see my own face again" https://www.bbc.co.uk/news/health-56906002.amp #LCA #RPE65 "I think there is an improvement. Today, coming into this park, I noticed that there are railings above the entrance to the gate. I've been here many times but never been able...
blind; #RPE65
