International Medical Case Reports Journal (Feb 2020)
CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity
Abstract
Silvana Guerriero,1 Francesco D’Oria,1 Giacomo Rossetti,2 Rosa Anna Favale,1 Stefano Zoccolella,1 Giovanni Alessio,1 Vittoria Petruzzella1 1Department of Medical Science, Neuroscience and Sense Organs, University of Bari Aldo Moro, Bari, Italy; 2Department of Molecular Biology, University of Geneva, Geneva, SwitzerlandCorrespondence: Vittoria PetruzzellaDipartimento di Scienze Mediche di Base, Neuroscienze e, Organi di Senso - Università degli Studi Aldo Moro, Piazza G. Cesare, Bari 70124, ItalyTel +39 080 5448530Fax +39 080 5448538Email [email protected]: Charcot-Marie-Tooth (CMT) constitutes a group of heterogeneous hereditary motor and sensor neuropathies. Mutations in mitofusin-2 (MFN2) cause CMT type 2A by altering mitochondrial fusion and trafficking along with the axonal microtubule system. In literature patients presenting with CMT2A are reported as having a subacute onset of optic atrophy associated with central scotoma and color vision defects. We report on the clinical and genetic findings in a 40 years-old Caucasian woman presenting with CMT type 2A and MFN 2 mutation (c.2258duplT/p.Leu753fs) who presented bilateral progressive optic atrophy with bilateral severe concentric narrowing of the visual field but normal visual acuity and color vision. This is the first report that describes such phenotypical manifestation of an MFN 2 mutation suggesting that the molecular mechanisms underlying the mitofusin-2 function alteration at optic nerve need to be investigated further.Keywords: Charcot-Marie-Tooth type 2A, mitofusin2, optic atrophy, mitochondria, visual field
