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
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...
It is indicated that PRPH2-associated retinal dystrophy is a multicellular process in which OS disruption drives coordinated RPE and Müller glial remodeling with potentially protective or pro-degenerative effects, and nominate the RPE Nfib-Fstl1 program, Müller glial AP-1 responses with predicted STAT3 involvement, and...
Haoxin Guo, Linfei Wei, Binghan Chen et al.· Neurobiology of Disease· 0 citations
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