Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.

Alessia NascaTeresa RizzaMara DoimoAndrea LegatiAndrea CiolfiDaria DiodatoCristina CalderanGianfranco CarraraEleonora LamanteaChiara AielloMichela Di NottiaMarcello NicetaCostanza LampertiAnna ArdissoneStefania Bianchi-MarzoliGiancarlo IarossiEnrico BertiniIsabella MoroniMarco TartagliaLeonardo SalviatiRosalba CarrozzoDaniele Ghezzi

Published in: Orphanet journal of rare diseases (2017)

This report provides evidence that bi-allelic OPA1 mutations may lead to complex and severe multi-system recessive mitochondrial disorders, where optic atrophy might not represent the main feature.

Keyphrases

optical coherence tomography
optic nerve
oxidative stress
machine learning
intellectual disability
drug induced