Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy.

doi:10.1001/jamaophthalmol.2026.0634

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Article

Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy.

JAMA ophthalmology - 1 May 2026

Beaulieu Cléis, Bouzidi Aymane, Desquiret-Dumas Valérie, Dieu Xavier, Makam Rahul, Jurkute Neringa, Vignal Catherine, Philibert Manon, Odent Sylvie, Zanlonghi Xavier, Latypov Marie, Debourdeau Eloi, Bocquet Béatrice, Yahia Raihane, Pons Linda, Villard Frédéric Pollet, Jeanjean Luc, Verrecchia Sarah, Froment Caroline, Engel Camille, Poirsier Céline, Arndt Carl, Dollfus Hélène, Gohier Philippe, Charif Majida, Ferré Marc, Prunier-Mirebeau Delphine, Meunier Isabelle, Yu-Wai-Man Patrick, Amati-Bonneau Patrizia, Lenaers Guy, Smirnov Vasily

Abstract excerpt

Importance: Aconitase 2 (ACO2) gene variants are one of the most frequent causes of dominant optic atrophy (DOA). However, the associated phenotypes and genotypes still lack proper characterization. Objective: To characterize the clinical and genetic spectrum of ACO2-related DOA and evaluate genotype-phenotype correlations. Design, Setting, and Participants: This was a retrospective case series to describe the...

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Identifiers

PMID: 41954904
DOI: 10.1001/jamaophthalmol.2026.0634
PMCID: PMC13067139

Genes

ACO2

Variants

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