Stargardt Phenotype Associated With Two <i>ELOVL4</i> Promoter Variants and <i>ELOVL4</i> Downregulation: New Possible Perspective to Etiopathogenesis?

Abstract

A highly reduced activity of the ELOVL4 promoter was registered due to combination of two variants. Decrease of ELOVL4 enzymatic activity could lead to a deficiency of VLC-PUFA, essential components for rods function and longevity, which are among the parameters involved in the etiopathogenesis of STGD.