The phenotype(s) associated with the G434V AspH variant are, unlike those of the R688Q, R735Q, and R735W AspH variants, not unequivocally linked to Traboulsi syndrome (64), which may reflect knowledge that the G434V variation is not located in the active site, but in the TPR domain, which is N-terminal to the AspH oxygenase domain and which has a role in substrate binding (Fig. 1) (52). This evidence concerns the gene ASPH and facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome.