AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients

Heterozygous mutations in AFG3L2 gene (encoding a mitochondrial protease indirectly reflecting on OPA1 cleavage) and ACO2 gene (encoding the mitochondrial enzyme aconitase) are associated to isolated forms of Dominant Optic Atrophy (DOA). We aimed at describing their neuro-ophthalmological phenotype as compared with classic OPA1-related DOA.

Source: American Journal of Ophthalmology - January 24, 2024 Category: Opthalmology Authors: Giulia Amore, Martina Romagnoli, Michele Carbonelli, Maria Lucia Cascavilla, Anna Maria De Negri, Arturo Carta, Vincenzo Parisi, Antonio Di Renzo, Costantino Schiavi, Chiara Lenzetti, Corrado Zenesini, Danara Ormanbekova, Flavia Palombo, Claudio Fiorini, Tags: Original Articles Source Type: research