Poor visual prognosis of Asian patients with 3460 mitochondrial DNA mutation in Leber’s hereditary optic neuropathy

Can J Ophthalmol. 2024 Apr 6:S0008-4182(24)00095-4. doi: 10.1016/j.jcjo.2024.03.013. Online ahead of print.


BACKGROUND: Among the 3 primary mutations of Leber’s hereditary optic neuropathy (LHON), the incidence of LHON with a mutation at nucleotide position 3460 is the lowest in Asians. Therefore, information about the clinical manifestations of LHON mutations in Asians with the 3460 mutation is limited.

OBJECTIVE: To determine the clinical manifestations including visual prognosis of Asians with the LHON 3460 mutation.

METHODS: We performed a retrospective study of 5 Korean LHON patients with the 3460 mutation.

RESULTS: All patients were male, and the age of onset for visual impairment varied from 17 to 35 years, with an average of 25.4 ± 7.16 years. Among the 10 affected eyes, only 1 eye of 1 patient showed visual improvement to 20/50 at 2 years after onset. The remaining patients had a visual acuity of worse than 20/200.

CONCLUSION: The visual prognosis of Korean patients with the LHON 3460 mutation was generally poor. Further studies regarding Asian patients with the LHON 3460 mutation are necessary.

PMID:38593981 | DOI:10.1016/j.jcjo.2024.03.013