#RetinalDystrophy
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shihcheng.bsky.social
🚨 New research identifies loss-of-function variants in SAXO6 as a cause of late-onset retinal dystrophy in 200+ patients! #RetinalDystrophy PMID:41742423, Am J Hum Genet 2026, @AJHGNews https://www.cell.com/ajhg/fulltext/S0002-9297(26)00064-9 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪
https://www.cell.com/ajhg/fulltext/S0002-9297(26)00064-9
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www.cell.com
March 5, 2026 at 5:10 AM
checkrare.bsky.social
A recent study illustrated clinical improvements in patients with retinal dystrophy treated with gene therapy.

checkrare.com/clinical-imp...

#CheckRare #RetinalDystrophy #RareOphthalmology
March 27, 2025 at 8:04 PM
digital-health.bsky.social
Gene therapy in children with AIPL1-associated severe retinal dystrophy: an open-label, first-in-human interventional study

www.thelancet.com/journals/lan...

#RetinalDystrophy #AIPL1 #GeneTherapy #MedSky
Gene therapy in children with AIPL1-associated severe retinal dystrophy: an open-label, first-in-human interventional study
Our findings indicate that young children with AIPL1-related retinal dystrophy benefited substantially from subretinal administration of rAAV8.hRKp.AIPL1, with improved visual acuity and functional vi...
www.thelancet.com
February 27, 2025 at 1:38 PM
jamaophthalmology.bsky.social
Inherited #RetinalDystrophy due to pathogenic SLC6A6 variants is linked to disrupted taurine transport and reduced plasma taurine in affected individuals.
ja.ma/4iDpxfx
https://ja.ma/48rZnrb
Early-onset retinopathy in patients with variants in SLC6A6, leading to impaired taurine transport
ja.ma
December 5, 2025 at 2:00 PM