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Article

Human retinal organoids with an OPA1 mutation are defective in retinal ganglion cell differentiation and function.

Stem cell reports - 9 Jan 2024

Lei Qiannan, Xiang Kangjian, Cheng Lin, Xiang Mengqing

Abstract excerpt

Autosomal dominant optic atrophy (ADOA), mostly caused by heterozygous OPA1 mutations and characterized by retinal ganglion cell (RGC) loss and optic nerve degeneration, is one of the most common types of inherited optic neuropathies. Previous work using a two-dimensional (2D) differentiation model of induced pluripotent stem cells (iPSCs) has investigated ADOA pathogenesis but failed to agree on the effect of...

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Identifiers

PMID: 38101398
DOI: 10.1016/j.stemcr.2023.11.004
PMCID: PMC10828684

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