Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations

摘要: PURPOSE To clinically and genetically characterize a distinct phenotype of congenital megalocornea (horizontal corneal diameter ≥13 mm) with secondary glaucoma from spherophakia and/or ectopia lentis during childhood in affected Saudi families. METHODS Clinical exam, homozygosity scan, candidate gene analysis. RESULTS From 2005 to 2010, eight individuals three consanguineous families were identified. In addition megalocornea, children presented lentis. One member each family developed spontaneous complete crystalline lens dislocation into the anterior chamber associated acute early childhood. Older had phenotypes that would have suggested prior uncontrolled primary congenital/infantile past ophthalmic histories not been available. Homozygosity mapping performed for first two latent transforming growth factor-beta-binding protein 2 (LTBP2), which when sequenced revealed novel homozgyous mutation segregated (p.S338PfsX4 [c.1012delT], p.Q1619X[(c.4855C>T]). LTBP2 sequencing third homozygous (p.C1438Y [c.4313G>A]). CONCLUSIONS Congenital is condition caused by recessive mutations needs be distinguished buphthalmos because typical initial surgical treatment removal former angle surgery latter. Complete can occur young this unique phenotype.