PURPOSE Pseudoexfoliation syndrome is a major risk factor for the development of glaucoma. Following recent reports of a strong association of coding variants in the lysyl oxidase-like 1 (LOXL1) gene with this syndrome but low penetrance and variable disease frequency between different populations, we aimed to identify additional genetic factors contributing to the disease. The clusterin (CLU) ...

Background. Our study aimed to investigate an association between ocular pseudoexfoliation (PXF) and sensorineural hearing loss (SNHL) and to compare them with age and sex matched controls without pseudoexfoliation. Method. This was a case-control study of 123 patients which included 68 cases with PXF (at least one eye) and 55 controls without pseudoexfoliation. Pure-tone audiometry (PTA) was d...

Although glaucoma, known to be the most common cause of irreversible blindness, is characterized by progressive loss of retinal ganglion cells, it has long been perceived as a disease caused by “increased intra-ocular pressure (IOP)”. Although increased IOP has been recently removed from the definition of glaucoma and regarded as a major risk factor and glaucoma has been defined as an optical n...

PURPOSE Glaucoma prevalence can vary geographically and ethnically, which suggests that a genetic element could play a significant role. Studies investigating the role of various mitochondrial haplogroups in the pathogenesis of glaucoma are scarce. METHODS We compared the prevalence of different mitochondrial haplogroups in 107 glaucoma patients (49 primary open-angle glaucoma, POAG; 29 prima...