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The apolipoprotein E phenotype (APOE) is known to be strongly associated with several neurodegenerative conditions including Alzheimer disease and dementia with Lewy bodies. Since APOE is produced by Muller cells within the retina and rapidly transported to the optic nerve, researchers from Newcastle upon Tyne (UK) and Milan (Italy) postulated that the genotype might modulate the expression of the primary mtDNA mutations in Leber Hereditary Optic Neuropathy (LHON).
Sixteen pedigrees from the UK and 44 from Italy were ascertained and investigated with family controls who were unaffected carriers. The authors found no effect of the specific mtDNA mutation on the risk of visual failure and no evidence of a significant effect of the genotype upon disease penetrance. The age of onset of blindness was no different in those with or without the ε4/- and non-ε4/- genotypes.
It remains possible the genotype may have a subtle effect, for example by affecting the chance of visual recovery after the acute phase.
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