A non-synonymous variant of the FBN2 gene, rs154001 (p.Val965Ile), was identified to be associated with AMD, and the non-synonymous variants of the FBN2 gene, including c.3430G-A (p. Glu1144Lys), c.3740T-C(p.Met1247Thr), c.4312G > A(p.Glu1438Lys) and c.4141C > A (p.His1381Asn) were identified in patients with EOMD1. This evidence concerns the gene FBN2 and age-related macular degeneration.