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, Leonardo Caporali, Valerio Carelli, Piero Barboni, Chiara La Morgia
PURPOSE: 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. DESIGN: Cross-sectional study. METHODS: The following neuro-ophthalmological parameters were collected: Log MAR visual acuity (VA), color vision, mean deviation and foveal threshold at visual fields, average and sectorial retinal nerve fiber layer (RNFL) and ganglion cell layer (GCL) thickness at optic coherence tomography...
January 24, 2024: American Journal of Ophthalmology