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.
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| http://dx.doi.org/10.1016/j.jcjo.2024.03.013 | DOI Listing |
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