Ectopia lentis is a zonular disease characterized by the subluxation of the lens resulting from the disruption of the zonular fibers. Patients with ectopia lentis commonly present with a marked loss in visual acuity that varies with the degree of lens subluxation in addition to a number of possibly accompanying ocular complications including cataract, myopia, retinal detachment, and glaucoma.
Genetic heterogeneity is observed in Isolated ectopia lentis. Mutations in the ADAMTSL4 gene are found to be responsible for autosomal recessive isolated ectopia lentis-2 (ECTOL2), whereas autosomal recessive isolated ectopia lentis-1 (ECTOL2) is caused by mutations in the FBN1 gene.