A novel PAX6 mutation causes congenital aniridia with or without retinal detachment.

Background: Aniridia is a rare developmental eye disorder characterized by complete or partial iris hypoplasia often accompanied with other ocular changes that affect the cornea, anterior chamber, lens, retina, and optic nerve. Most cases of aniridia are inherited with an autosomal dominant mode of inheritance caused by PAX6 mutations or deletions. To reveal the underlying genetic defect in a four-generation Iranian family with aniridia, we carried out a genetic screening of PAX6.

Aqueous concentrations of VEGF and soluble VEGF receptor-1 in diabetic retinopathy patients.

Background: The aim of this study was to simultaneously measure the concentrations of vascular endothelial growth factor (VEGF) and soluble VEGF receptor-1 (sVEGFR-1, also known as sFlt-1) in the aqueous humor of patients with non-proliferative diabetic retinopathy (NPDR) and to investigate whether aqueous levels of vascular endothelial growth factor (VEGF) and VEGFR-1 are related to diabetic macular edema.

Materials And Methods: Aqueous humor was collected from 27 diabetic patients and 33 age- and sex-matched normoglycemic controls and analyzed for pro-angiogenic VEGF and angiogenic inhibitor VEGFR-1 by enzyme-linked immunosorbent assay (ELISA). The mean foveal thickness was measured by optical coherence tomography (OCT).