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Article

USH2A-Mutated Human Retinal Organoids Model Rod-Cone Dystrophy.

Investigative ophthalmology & visual science - 3 Nov 2025

Ashworth Kristen E, Zhang Jiajie, D'Amata Cassandra, Héon Elise, Ballios Brian G

Abstract excerpt

Purpose: USH2A mutations are the leading cause of autosomal recessive retinitis pigmentosa (RP), a progressive blinding disease marked by photoreceptor degeneration. Animal models fail to recapitulate the features of USH2A RP seen in humans, and its earliest pathogenic events remain unknown. Here, we established a human model of USH2A RP using retinal organoids derived from patient induced pluripotent stem cells...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41182029
DOI: 10.1167/iovs.66.14.2
PMCID: PMC12594264

Genes

USH2A

Provenance

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

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