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Article

PRPF8-associated retinitis pigmentosa variant induces human neural retina-autonomous photoreceptor defects.

Scientific reports - 23 Feb 2026

Zimmann Felix, Banik Poulami, Kubovčiak Jan, Delattre Mathys, Thakur Prasoon K, Čapek Martin, Kolář Michal, Hrubá Eva, Dobrovolný Robert, Cvačková Zuzana, Bárta Tomáš, Staněk David

Abstract excerpt

Retinitis pigmentosa (RP) is an inherited retinal disorder characterized by the progressive loss of photoreceptors that currently lacks effective treatment. Here, we investigated the effects of the PRPF8-Y2334N variant on neural retina cells using human induced pluripotent stem cell (hiPSC)-derived retinal organoids. Expression of PRPF8-Y2334N variant resulted in photoreceptor defects, including thinning of the...

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Share to RPE gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Photoreceptor Cells, Vertebrate

Share to Retina

Share to Retinal Pigment Epithelium

Share to Retinitis Pigmentosa

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Source

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Identifiers

PMID: 41731009
DOI: 10.1038/s41598-026-40376-y
PMCID: PMC13031808

Genes

PRPF8
RPE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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