🧪 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.