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Glaucomatous optic nerve damage is caused by selective death of retinal ganglion cells (RGCs). Another condition with underlying loss of RGCs is autosomal dominant optic atrophy (ADOA). Majority of ADOA patients have mutations in OPA1, gene responsible for mitochondrial fusion final steps. Clinical resemblance between the two diseases make genes involved in mitochondrial fusion good candidates as glaucoma genes. In this study, we investigated if selected polymorphisms of OPA1, MFN1, and MFN2 were associated with glaucoma in Polish population. Four OPA1 (rs166850, rs10451941, rs7624750, rs9851685), one MFN1 (rs2111534), and two MFN2 (rs873458, rs2295281) single nucleotide polymorphisms were investigated in 304 primary open angle glaucoma patients (204 with normal tension glaucoma, 100 with high-tension glaucoma) and 258 control subjects using RT-PCR method. There was a significant difference in genotype frequencies of rs9851685 and rs2111534 polymorphisms between glaucoma patients and control subjects. Several genotype combinations comprising SNPs at OPA1 and MFN1 were significantly differently distributed in a three-way comparison between controls, patients with NTG and patients with HTG. None of the studied MFN2 polymorphisms was significantly associated with HTG or NTG. In studied population, genotype CC and allele C of rs9851685 OPA1 polymorphism are NTG risk factors, whereas TT genotype and T allele of this polymorphism are protective factors against NTG. Genotype GA of rs2111534 MFN1 polymorphism is an HTG risk factor and AA genotype of this polymorphism is a protective factor against HTG. Several OPA1 and MFN2 genotype combinations are significantly associated with either increased or decreased risk of glaucoma in this population. [ABSTRACT FROM AUTHOR]

Aim: The aim of this observational study was to evaluate the epidemiology of disc haemorrhages (DH) in Polish patients with normal tension glaucoma (NTG) and their association with some risk factors. Material and methods: The group studied consisted of 274 Caucasian patients with NTG (410 eyes) divided into those with disk haemorrhages (DH+, = 94 eyes in 81 patients) and those without disc haemorrhages (DH−, = 316 eyes in 193 patients). Ophthalmic examinations with visual field (VF) testing were carried out in these patients every 3 months for at least 18 months. The medical history was recorded taking glaucoma, other ophthalmic diseases, chronic general disorders and vascular risk factors into account. Results: Unilateral and bilateral DH were observed more frequently in women (p = 0.0010). Maximum IOP was significantly higher in the DH+ group (p = 0.000026). Notches and peripapillary atrophy were found with similar frequency in DH+ and DH− patients (p = 0.4631). The mean defect (MD) in the VF at the time of diagnosis was lower in the DH+ group (−6.27 dB) than in the DH group (−10.14 dB), (p = 0.000055). The initial MD in the DH+ group had a positive correlation with maximum initial IOP. A progressive loss of VF was observed in 206 eyes with NTG (50.2%), with a mean of 0.72 dB/year. The progression was more frequent in DH+ patients (78.4% versus 41.1%), but there were no statistically significant differences in the rate of progression between DH+ and DH− patients (p = 0.46). The morphology of early scotoma depended on the presence of DH (p < 0.00001), and early scotoma in the DH+ group was more frequently localized paracentrally. There was a significant difference in a number of antiglaucoma drops between DH+ and DH− patients (p < 0.00001). There were no differences in the frequency of migraines between both groups (p = 0.31). General hypotension was observed with similar frequency in the DH+ DH− groups (p = 0.3). General hypertension was less frequent in DH+ patients (p = 0.041), especially in women (p = 0.000027). Diabetes mellitus (DM) was significantly less frequent (21.3%) in patients with DH+ (3.7%) than in the DH− group (p = 0.000852), especially among the women (p = 0.000216). Conclusion: In our study, DH were more frequent both unilaterally and bilaterally in women. Initial intraocular pressure (IOP) was higher in NTG patients with DH, and early scotoma was localized in the paracentral area of the VF. Disc haemorrhages (DH) were less frequent in women with general hypertension and with diabetes mellitus. [ABSTRACT FROM AUTHOR]

Aim: To determine differences in visual field abnormalities in primary open angle glaucoma between patients with high and normal baseline intraocular pressure, and to assess whether some risk factors affect the defect pattern. Material and methods: The study group consisted of 170 patients with normal tension glaucoma and 125 patients with high tension glaucoma. The retrospective analysis of visual field, splinter hemorrhages, peripapillary atrophy, disc notches and vascular risk factors (low blood pressure, migraines and cold extremities) was carried out. Results: In patients with high tension glaucoma the most frequently observed scotoma were advanced changes (65.8%), arcuate scotoma (19.7%), paracentral scotoma (7.7%). Advanced changes were observed in 43.5% of patients with normal tension glaucoma, with arcuate scotoma seen in 28.7% and paracentral scotoma in 15.7% of them. The difference in visual field changes between both groups was statistically significant (p=0.003). The prevalence of disc hemorrhages was significantly higher in patients with normal tension glaucoma (16% vs. 4.3%, respectively). In patients with normal tension glaucoma and hemorrhages (DH+) the paracentral scotoma was seen more frequently (DH+ vs. DH-: 22.3% vs.10.2%). The type of scotoma in normal tension glaucoma was linked to the presence of cold distal extremities, which were seen more frequently in this group (p=0.000). Patients with normal tension glaucoma and cold extremities (CE+) typically presented with arcuate scotoma (CE+ vs. CE-: 27.8% vs. 0%). Peripapillary atrophy was more frequent in normal tension glaucoma and in males, and it was not linked to the type of scotoma (p= 0.133). Patient with high tension glaucoma and peripapillary atrophy had more often presented with advanced changes in visual field (p= 0.001). Conclusions: Scotoma morphology in primary open angle glaucoma depends on glaucoma subtype. Additionally, in normal tension glaucoma, it is related to the presence of disc hemorrhages and vascular risk factors.