Article
AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients.
American journal of ophthalmology - 1 Jun 2024
Amore Giulia, Romagnoli Martina, Carbonelli Michele, Cascavilla Maria Lucia, De Negri Anna Maria, Carta Arturo, Parisi Vincenzo, Di Renzo Antonio, Schiavi Costantino, Lenzetti Chiara, Zenesini Corrado, Ormanbekova Danara, Palombo Flavia, Fiorini Claudio, Caporali Leonardo, Carelli Valerio, Barboni Piero, La Morgia Chiara
Abstract excerpt
PURPOSE: Heterozygous mutations in the AFG3L2 gene (encoding a mitochondrial protease indirectly reflecting on OPA1 cleavage) and ACO2 gene (encoding the mitochondrial enzyme aconitase) are associated with isolated forms of Dominant Optic Atrophy (DOA). We aimed at describing their neuro-ophthalmological phenotype as compared with classic OPA1-related DOA. DESIGN: Cross-sectional study. METHODS: The following...
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