Rhesus macaques with an OPA1 mutation demonstrate features of autosomal dominant optic atrophy.

doi:10.1073/pnas.2509165123

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Article

Rhesus macaques with an OPA1 mutation demonstrate features of autosomal dominant optic atrophy.

Proceedings of the National Academy of Sciences of the United States of America - 21 Apr 2026

Jaggers Tracy N, Ripolles-Garcia Ana, Moshiri Ala, Story Brett D, Wang Jun, Chen Rui, Moore Lucy G, Teixeira Leandro B C, Shim Jaeho, Raposo Ana C, Casanova Maria Isabel, Le Sophie M, Park Sangwan, Young Laura J, Kim Soohyun, Roszak Karolina P, Ureno Vanessa, Karpinen Paige M, Echeverria Nayeli, Ardon Monica, Leonard Brian C, Knipe Marguerite, Bliss-Moreau Eliza, Fortune Brad, Stout J Timothy, Rogers Jeffrey, Marsh-Armstrong Nicholas, Thomasy Sara M

Abstract excerpt

Autosomal dominant optic atrophy (ADOA) is an inherited optic neuropathy primarily caused by mutations in OPA1. We identified and defined a spontaneous nonhuman primate (NHP) model of ADOA using rhesus macaques heterozygous for a missense mutation (OPA1A8S). With ocular examinations, ophthalmic imaging, electroretinography, histopathology, immunohistochemistry, and transmission electron microscopy (TEM), we...

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Identifiers

PMID: 41984835
DOI: 10.1073/pnas.2509165123
PMCID: PMC13099570

Genes

OPA1

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