Purpose.: ADAMTSL4 mutations cause autosomal recessive isolated ectopia lentis (IEL) and
ectopia lentis et pupillae. Dominant FBN1 mutations cause IEL or syndromic ectopia lentis …

Human gene mutations have revealed that a significant number of ADAMTS (a disintegrin-
like and metalloproteinase (reprolysin type) with thrombospondin type 1 motifs) proteins are …

Tissue microfibrils contain fibrillin-1 as a major constituent. Microfibrils regulate
bioavailability of TGFβ superfamily growth factors and are structurally crucial in the ocular …

Mutations in the secreted metalloproteinase ADAMTS10 cause recessive Weill-Marchesani
syndrome (WMS), comprising ectopia lentis, short stature, brachydactyly, thick skin and …

Secreted metalloproteases have diverse roles in the formation, remodeling, and the
destruction of extracellular matrix. Recessive mutations in the secreted metalloprotease …

Purpose.: To describe the genotype-phenotype relationship of a cohort of consecutive
patients with isolated ectopia lentis (EL) secondary to ADAMTSL4 and FBN1 mutations …

Purpose.: Fibrillins are the major constituent of tissue microfibrils, which form the ocular
zonule. In Marfan syndrome (MFS), FBN1 mutations lead to ectopia lentis. The goal of this …

Autosomal recessive and autosomal dominant forms of Weill-Marchesani syndrome, an
inherited connective tissue disorder, are caused by mutations in ADAMTS10 (encoding a …

ADAMTS (A disintegrin and metalloproteinase with thrombospondin motifs)-like (ADAMTSL)
proteins, a subgroup of the ADAMTS superfamily, share several domains with ADAMTS …

Purpose.: Mutations in human fibrillin-1 and-2, which are major constituents of tissue
microfibrils, can affect multiple ocular components, including the ciliary zonule, lens …