A Novel N‐Terminal <scp> <i>PRPF6</i> </scp> Variant in Autosomal Dominant Retinitis Pigmentosa

This report identifies the first N-terminal <i>PRPF6</i> variant (c.514C>T) as a cause of autosomal dominant Retinitis Pigmentosa. This novel variant is associated with progressive peripheral vision loss but notably preserved central visual acuity, suggesting a distinct phenotypic expression compared to C-terminal variants.