Introdução: A ectopia lentis et pupillae é uma condição autossômica recessiva que se refere a um deslocamento do cristalino da sua posição normal, associado má formação pupilar, podendo ser hereditária ou adquirida. O pode estar completamente deslocado, deixando o olho afácico, parcialmente deslocado/subluxado. Entre as causas, têm-se hereditárias como aniridia, síndrome de Marfan, Homocistinúr...

Colletotrichum lentis is a hemibiotrophic pathogen and causes anthracnose on lentil. To understand the molecular mechanism underlying the symptomatic phase of infection, a cDNA plasmid library was developed from the susceptible lentil cultivar Eston infected with an isolate of the virulent race 0 of C. lentis. The library was sequenced on the Sanger sequencing platform, generating a total of 11...

Colletotrichum lentis is a fungal pathogen of lentil in Canada but rarely reported elsewhere. Two races, Ct0 and Ct1, have been identified using differential lines. Our objective was to develop a PCR-probe differentiating these races. Sequences of the translation elongation factor 1α (tef1α), RNA polymerase II subunit B2 (rpb2), ATP citrate lyase subunit A (acla), and internal transcribed space...

PURPOSE ADAMTSL4 mutations cause autosomal recessive isolated ectopia lentis (IEL) and ectopia lentis et pupillae. Dominant FBN1 mutations cause IEL or syndromic ectopia lentis (Marfan syndrome and Weill-Marchesani syndrome). The authors sought to characterize recombinant ADAMTSL4 and the ocular distribution of ADAMTSL4 and to investigate whether ADAMTSL4 influences the biogenesis of fibrillin-...

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, and candidate gene analysis. RESULTS From 2005 to 2010, eight affected individuals from three consanguineo...