The Clinical Features Of G11778A&T14484C Leber Hereditary Optic Neuropathy

ObjectiveTo analyze the clinical features of Leber hereditary optic neuropathy(LHON) and to compare the outcomes of different accessory examinations with the two genotypes: G11778A&T14484C, including the best correct visual acuity, visual field and optical coherence tomography(OCT).Method8LHON patients in our hospital from August2012to December2013were collected. They were divided into2groups according to the mitochondrial DNA (mtDNA) point mutations.4patients with G11778A mutation are in G11778A group,4patients with T14484C mutation are in T14484C group. All patients came to our hospital from February to April2014. The visual acuity, visual field and RNFLT tested with OCT were compared between the2groups.ResultsMean age of disease onset in G11778A group is15.75±2.05a. It is characterized bilateral acute or subacute loss of central vision. BCVA is between light feeling to0.15. Some patients may have relative afferent pupillary defect, nystagmus and exotropia. One of them has posture tremor. Optic discs were totally or temporal pallor. About visual field, most showed central diffuse vision loss or3quadrant vision loss.Mean age of disease onset in T14484C group is21.75±10.06a. Their features are almost the same as those of G11778A group patients. BCVA is between fingure count to0.6. None of them has anterior segment or extraocular abnormalities. Optic discs were temporal pallor. Visual field showed central or paracentral scotoma in most cases.Compared to T14484C group, G11778A group showed thicker RNFL in the average, superior and inferior quadrants (P=0.000, P=0.002, P=0.002); no significant change was detected in the temporal and nasal quadrant(P=0.650, P=0.137).ConclusionLHON patients with G11778A mutation may have earlier onset of the disease and more severe visual field damage. They also present more anterior segment or extraocular abnormalities.LHON patients with T14484C mutation may present the same clinical features but better BCVA with G11778A LHON patients.G11778A LHON patients group showed thicker RNFL in the average, superior and inferior quadrants compared with T14484C LHON patients. But it still remains a question which needs to be further studied.