<i>MFN2</i>-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations

Abstract

We herein describe a Charcot-Marie-Tooth disease (CMT) family with a MFN2 mutation with atypical ocular manifestations. The proband, his mother, his third daughter, and his deceased maternal grandfather all had symptoms of CMT and a visual impairment (either cataracts or severe astigmatism). On whole-exome sequencing for the proband having CMT and congenital cataracts, we identified a c.314C>T (p.Thr105Met) mutation in MFN2, but no mutation in the causative genes associated with cataracts. This missense mutation in MFN2 co-segregated with CMT and the atypical ocular manifestations in this family. The findings of this study might help to expand the clinical phenotype of heterogeneous MFN2-related CMT.

Charcot–Marie–Tooth Disease and Implications on Corneal Refractive Surgery

“…Oculomotor abnormalities due to cranial nerve involvement have also been documented [ 10 ]. Optic atrophy has been observed in the CMT2A variant, secondary to mitofusin-2 MFN2 gene abnormalities [ 11 , 12 ]. Other ocular manifestations of CMT include red/green color vision abnormalities, premature presbyopia, nystagmus, retinitis pigmentosa, peripapillary vessel attenuation, retinal nerve fiber layer thinning, and central/paracentral scotoma [ 13 ].…”