Peripapillary retinal nerve fibre layer thinning, perfusion changes and optic neuropathy in carriers of Leber hereditary optic neuropathy-associated mitochondrial variants.

Overall, reduced peripapillary retinal nerve fibre layer perfusion was observed in those affected by LHON but was not reduced in their asymptomatic relatives, unlike RNFL thinning which was significantly reduced in both groups versus controls. The presence of RNFL changes was associated with signs of optic neuropathy in asymptomatic relatives.