A point mutation in EFEMP1 causes an autosomal dominant macular degenerative disease caused by Malattia Levantine/Doyne honeycomb retinal dystrophy [25].Furthermore, genome-wide association studies have found that EFEMP1 genetic variants, particularly rs3791679, are significantly associated with adult height [26], carpal tunnel syndrome [27] and inguinal hernia [28]. This evidence concerns the gene EFEMP1 and carpal tunnel syndrome.