A hypothesis to explain the reduced blood levels of docosahexaenoic acid in inherited retinal degenerations caused by mutations in genes encoding retina-specific proteins.

Abstract excerpt

Some humans and animals with inherited retinal degenerations (RD) have lower blood levels of docosahexaenoic acid (22:6n-3) than controls. As a result of recent studies, clearly the low blood 22:6n-3 phenotype is found in multiple RD phenotypes and no mutation thus far identified in humans or animals is involved in lipid metabolism. Therefore, it seems reasonable to suggest that the primary defect is not in...

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