[Optic atrophy in a patient with axonal Charcot-Marie-Tooth disease 2A2A due to MFN2 gene mutations].

Abstract excerpt

A 27-year-old male patient had progressive vision loss in both eyes, which was mainly manifested by impaired ganglion cells in the macular area, accompanied by systemic muscle atrophy in limbs. A complete mitochondrial exon gene detection was performed. The final diagnosis was bilateral optic atrophy and axonal Charcot-Marie-Tooth disease 2A2A caused by mutations of the MFN2 gene. There has been no effective...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Charcot-Marie-Tooth Disease
• Share to Eye
• Share to GTP Phosphohydrolases