Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.

A further exploratory analysis, focusing on sectorial RNFL thickness data limited to the LHON cases from the IRCCS Institute of Neurological Sciences of Bologna ( Figure S8 ), highlighted that, for most quadrants (nasal/inferior/superior), there was an overall trend toward the lowest RNFL thickness in the mut/mut and highest in the WT/WT NQO1 genotypes, with heterozygote mut/WT being intermediate.

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Although the NQO1 mut/mut genotype in German patients also had the lowest average RNFL thickness ( Figure 6 D), it did not reach statistical significance.

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