Junkai Tan, Suping Cai, Xiaolin Luo, Qiang Li, Yanbing Chen, Zijie Chen, Yukai Mao, Guo Liu, Mingming Yang, Xuyang Liu
It is known that the actin cytoskeleton and its associated cellular interactions in the trabecular meshwork (TM) and juxtacanalicular tissues mainly contribute to the formation of resistance to aqueous outflow of the eye. Fibulin-3, encoded by EFEMP1 gene, has a role in extracellular matrix (ECM) modulation, and interacts with enzymatic ECM regulators, but the effects of fibulin-3 on TM cells has not been explored. Here, we report a stop codon variant (c.T1480C, p.X494Q) of EFEMP1 that co-segregates with primary open angle glaucoma (POAG) in a Chinese pedigree...
March 11, 2024: Experimental Eye Research