In our patient, Traboulsi syndrome was confirmed through exome and Sanger sequencing after excluded deleterious mutations related to ectopia lentis including ADAMTS10, ADAMTS17, ADAMTSL4, CBS, COL18A1, FBN1, LTBP2, PAX6, and VSX2 (Chandra & Charteris, 2014). The gene discussed is CBS; the disease is facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome.