ADAMTSL4 encodes an extracellular matrix-associated protein that plays critical roles in ocular development and connective tissue organization. The protein is involved in extracellular matrix organization and cell junction maintenance, with expression demonstrated in human iris, choroidal tissue, ciliary body, ciliary processes, and retinal pigment epithelium 1. ADAMTSL4 functions in facilitating microfibril biogenesis and appears essential for normal embryonic development, as zebrafish knockout models display lethal phenotypes including ocular defects, pericardial edema, and craniofacial malformations 2. Loss-of-function mutations in ADAMTSL4 cause autosomal recessive ectopia lentis, characterized primarily by lens dislocation (100% of cases) and associated with ectopia lentis et pupillae (19% of cases), iris transillumination, persistent pupillary membrane, and early-onset cataracts 3. Biallelic truncation variants are associated with more severe ocular phenotypes, including higher risks of combined iris anomalies 4. ADAMTSL4-related ectopia lentis accounts for approximately 1.3% of ectopia lentis cases, with post-surgical complications including retinal detachment (15%) and elevated intraocular pressure (10%) 53. The protein's role in extracellular matrix organization makes it crucial for maintaining structural integrity of ocular tissues, particularly those involved in lens support and positioning.