In conclusion, this study revealed variant c.672_701dup in FOXL2 as a BPES-causing variant in a family with the rare features of anisometropia, unilateral PM and/or congenital cataracts, thus expanding the phenotypic spectrum of FOXL2. The gene discussed is FOXL2; the disease is blepharophimosis, ptosis, and epicanthus inversus syndrome.