Wakako Okayama-Miyazaki

A novel PRPF31 variant associated with autosomal dominant retinitis pigmentosa in Japanese families.

BACKGROUND PRPF31-associated inherited retinal dystrophy is an autosomal dominant form of retinitis pigmentosa (RP), typically caused by haploinsufficiency. Although affected individuals generally exhibit early-onset nyctalopia and progressive visual field loss, the clinical and genetic characteristics associated with...