TY - JOUR T1 - Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation. JF - British Journal of Ophthalmology JO - Br J Ophthalmol SP - 915 LP - 917 DO - 10.1136/bjo.80.10.915 VL - 80 IS - 10 AU - G C Black AU - K Morten AU - A Laborde AU - J Poulton Y1 - 1996/10/01 UR - http://bjo.bmj.com/content/80/10/915.abstract N2 - AIM: To assess the effect of heteroplasmy on the expression of Leber's hereditary optic neuropathy (LHON) in a large family with the 3460 LHON mutation. METHODS: Mutation detection was performed by restriction enzyme digestion of polymerase chain reaction (PCR) products. Heteroplasmy was estimated by quantitation of wild type:mutant product ratios. RESULTS: There is a significant association between levels of mutant mtDNA and manifestation of the disease phenotype. CONCLUSION: As a high proportion of families with the 3460 mutation demonstrate heteroplasmy; this is likely to be a significant factor in disease expression. ER -