The CDL offers a 5 gene panel for genes associated with ectopia lentis. Pathogenic variants in ADAMTS10, ADAMTS17, ADAMTSL4, FBN1, and CBS have been identified in individuals with ectopia lentis. This panel is recommended for individuals with possible autosomal dominant or autosomal recessive ectopia lentis.

Ectopia lentis is the displacement of the eye’s crystalline lens, a clear structure at the front of the eye that focuses light. Vision problems are common in these individuals and may include nearsightedness (myopia), irregular curvature of the lens (astigmatism), clouding (cataracts), or increased pressure within the eyes (glaucoma). Ectopia lentis occurs in approximately 1 in 15,600 individuals and usually occurs as part of a broader, systemic condition such as Marfan Syndrome or Homocystinuria.