# A Novel N‐Terminal PRPF6 Variant in Autosomal Dominant Retinitis Pigmentosa

## TL;DR

A new genetic variant in PRPF6 is linked to a specific form of inherited eye disease with unique vision loss patterns.

## Contribution

The first N-terminal PRPF6 variant is identified as a cause of autosomal dominant Retinitis Pigmentosa.

## Key findings

- The c.514C>T PRPF6 variant causes autosomal dominant Retinitis Pigmentosa.
- The variant leads to progressive peripheral vision loss with preserved central visual acuity.

## Abstract

This report identifies the first N‐terminal PRPF6 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.