Substantial yield losses and poor seed quality are frequently associated with Ascochyta blight infection of lentil caused by Ascochyta lentis. Recently reported changes in aggressiveness of A. lentis have led to decreased resistance within cultivars, such as Northfield and Nipper in Australia. Furthermore, the narrow genetic base of the current breeding program remains a risk for further select...

PURPOSE To examine the ocular malformations and identify the molecular genetic basis for autosomal recessive ectopia lentis et pupillae in five Norwegian families. METHODS Ten affected persons and 11 first-degree relatives of five Norwegian families underwent ophthalmic and general medical examination. Molecular genetic studies included homozygosity mapping with SNP markers, DNA sequencing, a...

In nine members from three generations and in a distant relative, at least three significant characteristics of the ectopia lentis et pupillae syndrome were established including ectopia lentis, ectopia pupillae, persistent pupillary membrane, iris transillumination, and poor pupillary dilatation. All patients developed bilateral cataract before the age of 40 years, and two patients presented w...

fibrillin-rich microfibrils are susceptible to degradation by serine proteases, and the amino acid substitutions found in Marfan syndrome change the fragmentation patterns. Fibrillin degradation products generated by MMP activity provide conclusive evidence that these enzymes cause specific changes to assembled microfibrils. In Marfan syndrome, most of the mutations in fibrillin-1 are found wit...

Homocystinuria due to cystathionine-beta-synthetase deficiency is an autosomal recessive disorder of methionine metabolism with an incidence in Ireland of 1 in 52,544 births. Ocular complications in untreated patients include ectopia lentis, secondary glaucoma, optic atrophy, and retinal detachment. There are no characteristic signs or symptoms in infancy, and early detection relies on screenin...

Purpose: Artisan iris-claw lens implantation (AICLI) is a surgical technique for treating ectopia lentis. We aimed to compare visual outcomes and possible long-term complications of AICLI surgery in pediatric patients with ectopia lentis with or without a diagnosable hereditary disease. Methods: Seventeen children with non-traumatic ectopia lentis were retros pectively classified into two gro...

Anecdotal evidence identified a change in the reaction of the resistant lentil cv Nipper to ascochyta blight in South Australia in 2010 and subsequent seasons, leading to infection. This study investigated field reactions of lentil cultivars against Ascochyta lentis and the pathogenic variability of the A. lentis population in southern Australia on commonly grown cultivars and on parental germp...

fibrillin-rich microfibrils are susceptible to degradation by serine proteases, and the amino acid substitutions found in Marfan syndrome change the fragmentation patterns. Fibrillin degradation products generated by MMP activity provide conclusive evidence that these enzymes cause specific changes to assembled microfibrils. In Marfan syndrome, most of the mutations in fibrillin-1 are found wit...