Visual prognosis of Leber's hereditary optic neuropathy with 14484/ND6 mutation in Koreans

The 14484 mutation in the ND6 gene of mitochondrial DNA (mtDNA) is one of t he three primary mutations of Lebers hereditary optic neuropathy (LHON). It shows a better visual prognosis than either the 11778 or the 3460 mutation . In order to determine if there is any difference in visual prognosis acco rding to race, we evaluated 12 Korean LHON patients with this mutation who were negative for eight proposed secondary mutations. Two of the 12 patient s had a family history of optic neuropathy. Four of the 12 patients (33%) s howed an improvement in visual acuity of up to 20/50 or better in both eyes . Four of the remaining eight patients showed an improvement in visual acui ty of up to 20/50 or better in one eye. The visual acuity of the remaining four patients, however, did not improve, even though they were were under 2 5 years of age and none of them were heavy alcohol drinkers or heavy tobacc o users. These findings indicate that Korean patients with the 14484 mutati on may have a visual prognosis similar to that of Caucasian or Japanese pat ients with the same mutation.