Ectopia lentis is characterized by displacement or dislocation of the crystalline lens and may occur as an isolated ocular finding or as part of a systemic connective tissue or metabolic disorder. Associated manifestations may include high myopia, glaucoma, retinal detachment, cardiovascular abnormalities, and skeletal features.

This panel includes genes associated with both isolated and syndromic ectopia lentis, including Marfan syndrome, Weill-Marchesani syndrome, homocystinuria, and related connective tissue disorders. Representative genes include FBN1, ADAMTSL4, ADAMTS10, ADAMTS17, CBS, and LTBP2.

This panel is recommended for patients in whom lens subluxation or dislocation is the primary clinical finding, particularly when associated with connective tissue, cardiovascular, or metabolic features suggestive of a hereditary syndrome.