Advances in molecular genetic study of primary open angle glaucoma / 中华实验眼科杂志

ABSTRACT

Primary open angle glaucoma (POAG) is a group of disorders characterized by loss of retinal ganglion cells (RGCs) associated with optic nerve degeneration and visual field damage.With the application of molecular biology in ophthalmology,at least 20 chromosome loci have been identified to be linked to POAG.Only 3 causative genes were identified from these loci,i.e.myocilin (MYOC),optineurin (OPTN) and WD repeat domain 36 (WDR36),which altogether account for less than 10％ of POAG.Only a portion of POAG Complies with Mendelian inheritance,and a considerable fraction results from a large number of variants in multiple genes,each contributing less effects.The main technological approaches include family linkage analysis,genome-wide scan,casecontrol association study,etc.Association studies found at least 16 genes to be related to POAG,but reports on glaucoma-causing effects of these genes are conflicting.In this article,we reviewed the POAG related genes,especially the four well known causative genes of MYOC,OPTN,WDR36,and CA V1/CA V2,in terms of their locations,structures,functions,and mutations.