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CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity
Silvana Guerriero1, Francesco D'Oria1, Giacomo Rossetti2
1Department of Medical Science, Neuroscience and Sense Organs, University of Bari Aldo Moro, Bari, Italy.
International Medical Case Reports Journal
|February 29, 2020
Summary
Charcot-Marie-Tooth type 2A, caused by MFN2 mutations, can present with unique visual field defects. This case highlights a novel presentation of optic atrophy in a patient with a MFN2 mutation.
Area of Science:
- Neurology
- Genetics
- Ophthalmology
Background:
- Charcot-Marie-Tooth (CMT) is a group of inherited neuropathies.
- MFN2 gene mutations are linked to CMT type 2A, affecting mitochondrial dynamics and axonal transport.
Observation:
- A 40-year-old woman with CMT type 2A and an MFN2 mutation presented with bilateral optic atrophy and severe visual field narrowing.
- Unlike previously reported cases, she maintained normal visual acuity and color vision.
Findings:
- The patient's MFN2 mutation (c.2258duplT/p.Leu753fs) resulted in a distinct visual phenotype.
- This presentation expands the known spectrum of MFN2-associated optic neuropathy.
Implications:
- Further research into MFN2's role in optic nerve function is warranted.
- Understanding these molecular mechanisms could lead to better diagnostics and treatments for CMT patients with visual impairment.
