1.
Zhonghua Yan Ke Za Zhi
; 59(5): 408-410, 2023 May 11.
Artigo
em Chinês
| MEDLINE
| ID: mdl-37151011
RESUMO
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 treatment. Applications of nutrients to restore the mitochondrial function may alleviate the clinical symptoms.