CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity

摘要

Charcot-Marie-Tooth (CMT) constitutes a group of heterogeneous hereditary motor and sensor neuropathies. Mutations in mitofusin-2 ( ) 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 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 2 mutation suggesting that the molecular mechanisms underlying the mitofusin-2 function alteration at optic nerve need to be investigated further.