18 Recently, genetic studies have demonstrated a highly significant association between PEX and sequence variants in the gene coding for lysyl oxidase-like 1 ( LOXL1 ). 19 Indeed, given the low prevalence of known glaucoma genes, LOXL1 is currently the most significant genetic risk factor for glaucoma in general. 17 LOXL1 is a key enzyme involved in elastic fiber synthesis and homeostasis supporting a role of elastogenesis and elastosis in the pathophysiology of PEX syndrome.
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