Acute optic neuropathy associated with a novel MFN2 mutation

Luca Leonardi, Christian Marcotulli, Eugenia Storti, Alessandra Tessa, Mariano Serrao, Vincenzo Parisi, F. M. Santorelli, Francesco Pierelli, Carlo Casali

Research output: Contribution to journalArticlepeer-review


Mutations in the mitofusin 2 (MFN2) gene cause CMT2A the most common form of autosomal dominant axonal Charcot–Marie–Tooth (CMT). In addition, mutations in MFN2 have been shown to be responsible for Hereditary Motor Sensory Neuropathy type VI (HSMN VI), a rare early-onset axonal CMT associated with optic neuropathy. Most reports of HMSN VI presented with a sub-acute form of optic neuropathy. Herein, we report a CMT2A patient, who developed very rapidly progressing severe optic neuropathy. A 40-year-old Caucasian man was evaluated for gait disturbance and lower limbs weakness, slowly progressed over the last 2 years. Due to clinical data and family history, a diagnosis of CMT2 was made. The novel heterozygous c.775C > T (p.Arg259Cys) mutation in MFN2 was detected in the patient and his clinical affected mother. Interestingly, the patient developed a severe sudden bilateral visual deterioration few years early, with clinical and instrumental picture suggestive of acute bilateral optic neuropathy. Our report expands the spectrum of MFN2-related manifestation because it indicates that visual symptoms of HMSN VI may enter in the differential with acquired or hereditary acute optic neuropathies, and that severe optic neuropathy is not invariably an early manifestation of the disease but may occur as disease progressed. This report could have an impact on clinicians who evaluate patients with otherwise unexplainable bilateral acute-onset optic neuropathy, especially if associated with a motor and sensory axonal neuropathy.

Original languageEnglish
Pages (from-to)1678-1680
Number of pages3
JournalJournal of Neurology
Issue number7
Publication statusPublished - May 10 2015


  • Bilateral acute optic neuropathy
  • CMT2A
  • MFN2

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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