Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation.
Linghui KongGuoming ChuWei MaJiajian LiangDan LiuQiushi LiuXiaowei WeiShanshan JiaHui GuYiwen HeWenting LuoSongying CaoXiaomeng ZhouRong HeZheng Wei YuanPublished in: Journal of medical genetics (2023)
plays a significant role in retinal development and visual function. This finding may provide new insights into RP pathogenesis and potential genes for molecular diagnosis and targeted therapy.