Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype.

Purpose: To correlate the degree of foveal hypoplasia in congenital aniridia with visual acuity, iris phenotype, and PAX6 mutations.

Design: Retrospective case series.

Methods: Ninety-five consecutive patients with high-quality spectral-domain optical coherence tomography records and available genotype were included in a single referral center.

New clinical forms of hereditary apoA-I amyloidosis entail both glomerular and retinal amyloidosis.

Apolipoprotein A1 amyloidosis (ApoAI) results from specific mutations in the APOA1 gene causing abnormal accumulation of amyloid fibrils in diverse tissues. The kidney is a prominent target tissue in ApoAI amyloidosis with a remarkable selectivity for the renal medulla. Here, we investigated six French families with ApoAI Glu34Lys, p.

The contributions of central and peripheral vision to scene-gist recognition with a 180° visual field.

We investigated the relative contributions of central versus peripheral vision in scene-gist recognition with panoramic 180° scenes. Experiment 1 used the window/scotoma paradigm of Larson and Loschky (2009). We replicated their findings that peripheral vision was more important for rapid scene categorization, while central vision was more efficient, but those effects were greatly magnified.

Intraplatelet Vascular Endothelial Growth Factor and Platelet-Derived Growth Factor: New Biomarkers in Carcinoembryonic Antigen-Negative Colorectal Cancer?

Background/aim: Colorectal cancer (CRC) is associated with high incidence and mortality rates. Carcinoembryonic antigen (CEA), a prognostic biomarker for recurrent CRC following curative resection, suffers from low sensitivity, especially in early-stage screening. Intraplatelet angiogenesis regulators (IPAR), such as vascular endothelial growth factor (VEGF) and platelet-derived growth factor (PDGF), have been identified as important regulators of tumor growth in CRC.

VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants.

The first case of hereditary fibrinogen Aα-chain amyloidosis was recognized >20 years ago, but disease mechanisms still remain unknown. Here we report detailed clinical and proteomics studies of a French kindred with a novel amyloidogenic fibrinogen Aα-chain frameshift variant, Phe521Leufs, causing a severe familial form of renal amyloidosis. Next, we focused our investigations to elucidate the molecular basis that render this Aα-chain variant amyloidogenic.