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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. · 0 citations
Review Open access Sep 2026

iPSC-derived retinal organoids: Biological insights and progress toward photoreceptor replacement therapy.

Induced pluripotent stem cell (iPSC)-derived retinal organoids (ROs) have emerged as a platform for photoreceptor replacement therapy, supported by two complementary approaches: cone precursor cell transplantation and RO transplantation. Both have demonstrated proof of concept for functional synaptic integration with t...

Akiko Maeda, Xiao-Xu Han, M. Mandai · 0 citations

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