Open access
Sep 2026
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...
Wakako Okayama-Miyazaki, Akiko Yoshida, Xiao-Xu Han et al.
· Ophthalmic Genetics · 0 citations