Comparison of retinal nerve fibre layers between 11778 and 14484 mutations in Leber's hereditary optic neuropathy.

Purpose: To compare retinal nerve fibre layer (RNFL) thickness changes between mitochondrial DNA (mtDNA) mutations at nucleotides 11778 and 14484 in Leber's hereditary optic neuropathy (LHON) using optical coherence tomography (OCT).
Methods: Thirty LHON patients with mtDNA mutations at nucleotides 11778 or 14484 underwent full ophthalmologic examinations including Stratus OCT. Patients were divided into four groups according to disease duration (early <or=6 months, late >6 months) and mtDNA mutation type (11778 and 14484), and their RNFL thicknesses were compared.
Results: Average RNFL thickness in the early 11778 group was significantly greater than that in the early 14484 group (P=0.04). Average RNFL thickness in the late 11778 group was significantly less than that in the late 14484 group (P=0.02). Quadrant analysis of the superior, nasal, and inferior quadrant RNFL thickness in the late 11778 group showed more severe RNFL atrophy than in the late 14484 group (P=0.023, 0.015, 0.003, respectively).
Conclusions: RNFL thickness was significantly increased in the early stage and decreased in the late stage in the 11778 group than in the 14484 group.