Pseudoexfoliation (PEX) syndrome, a stress-induced fibrotic matrix process, is the most common recognizable cause of open-angle glaucoma worldwide. The recent identification of PEX-associated gene variants uncovered the vitamin A metabolic pathway as a factor influencing the risk of disease. In this study, we analyzed the role of the retinoic acid (RA) signaling pathway in the PEX-associated matrix metabolism and evaluated its targeting as a potential candidate for an anti-fibrotic intervention.
View Article and Find Full Text PDFBackground: Symptoms and clinical findings in patients with carotid-cavernous fistulas are specific. Nevertheless, they can be very mildly expressed. This study aims to point out the potential diagnostic value of ultrasound of the orbit.
View Article and Find Full Text PDFPurpose: The clinical feature of unilateral decompensating strabismus sursoadductorius (dSSA; often called congenital superior oblique palsy, CSOP) is not an etiologically uniform entity. Hypotrophy of the superior oblique muscle (HMOS) is a frequent and immediate cause of dSSA/CSOP. In this study, clinical characteristics of dSSA/CSOP with and without HMOS are compared.
View Article and Find Full Text PDFPurpose: Alternative mRNA splicing coupled to nonsense-mediated decay (NMD) is a common mRNA surveillance pathway also known to dynamically modulate gene expression in response to cellular stress. Here, we investigated the involvement of this pathway in the regulation of lysyl oxidase-like 1 (LOXL1) expression in response to pseudoexfoliation (PEX)-associated pathophysiologic factors.
Methods: Transcript levels of LOXL1 isoforms were determined in ocular tissues obtained from donor eyes without and with PEX syndrome.