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PurposeTo 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).MethodsThirty 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6 months, late>6 months) and mtDNA mutation type (11778 and 14484), and their RNFL thicknesses were compared.ResultsAverage 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).ConclusionsRNFL thickness was significantly increased in the early stage and decreased in the late stage in the 11778 group than in the 14484 group. [ABSTRACT FROM AUTHOR]

PurposeHomozygous polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and resultant hyperhomocysteinaemia have been established as an independent risk factor for vascular diseases. There are evidences that vascular abnormalities are involved in the pathogenesis and progression of normal-tension glaucoma (NTG). In the present study, we were to find out the associations between 677C>T and 1298A>C polymorphisms of the MTHFRgene and NTG.MethodsThis was a retrospective, case–controlled study enrolling 78 NTG patients and 100 controls. DNA from peripheral blood lymphocytes was extracted and the genotypes of polymorphisms (677C>T and 1298A>C) in the MTHFRgene were determined using PCR followed by restriction enzyme digestion. The frequencies of the polymorphic genotypes in the patients with NTG and controls were compared.ResultsThe frequencies of the polymorphisms of the MTHFRgene (677C>T and 1298A>C) in the NTG patients were not significantly different from those of controls. But the younger NTG patients (age at diagnosis 45 years) showed significantly higher prevalence of 677C>T polymorphism than the older NTG patients (age at diagnosis >45 years) (TT genotype, 38.9 vs11.9%, P=0.006, OR=4.71, 95% CI=1.49–14.9) and than the younger control subgroup (TT genotype, 38.9 vs6.1%, P=0.001, OR=9.86, 95% CI=2.23–42.4).ConclusionsThe 677C>T polymorphism was significantly associated with NTG in the younger patients, while 1298A>C polymorphism was not. This suggests that 677C>T polymorphism of the MTHFRgene can be a genetic risk factor of NTG in Korean population.Eye (2009) 23, 17–24; doi:10.1038/sj.eye.6702920; published online 6 July 2007 [ABSTRACT FROM AUTHOR]