Traboulsi syndrome: A rare eye disease and its genetic association

Traboulsi syndrome is a multi-organ disorder typically characterized by pleiotropic manifestations including facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB). It is caused by mutations in the candidate gene ASPH, which encodes an enzyme aspartyl/asparaginyl beta-hydroxylase involved in the hydroxylation of the epidermal growth factor domain (EGFD). It is a rare monogenic disorder, inherited in an autosomal recessive manner. In recent years, many rare genetic disorders have been identified without established registries, which poses a major public health challenge. Consequently, diagnosing and treating rare disorders requires a thorough understanding of their predisposition factors. This review provides an in-depth understanding of genetic aetiology, pathophysiology, and possible disease management approaches contributing to Traboulsi syndrome.