Comparison of retinal nerve fibre layers between 11778 and 14484 mutations in Leber's hereditary optic neuropathy.
OBJECTIVE
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.
Seo
J H
JH
Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.
Hwang
J-M
JM
Park
S S
SS
D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D009412:Nerve Fibers / Q000473:pathology*; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D012165:Retinal Ganglion Cells / Q000473:pathology*; D041623:Tomography, Optical Coherence; D055815:Young Adult
D004272:DNA, Mitochondrial