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Background: 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., Methods: 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., Results: 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., Conclusions: 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.

Aim: The purpose of this study was to evaluate the influence of polymorphisms of the eNOS gene on the clinical status of patients with normal and high tension glaucoma., Methods: 266 Polish Caucasian patients with primary open angle glaucoma were studied. Of the 266, 156 had normal tension glaucoma (NTG) and 110 high tension glaucoma (HTG). DNA material was isolated from peripheral venous blood using commercial kits. Real-time PCR reaction was used to amplify the promoter site of the endothelial nitric oxide synthase (eNOS) gene, including the single nucleotide polymorphism (SNP) site T-786C and part of the 7th exon of eNOS, including G894T SNP. Genotypes were determined with TaqMan SNP Genotyping Assays., Results: There were no significant differences in frequencies of the allelic variants of both polymorphisms. In G894T SNP, however, the wild GG form was more common in the HTG group. The SNP of the eNOS gene did not significantly influence the progression rate in either of the groups studied. There were no differences in variants of the eNOS gene regarding the necessity for and success of surgery and the progression of the disease. In the NTG group, no statistical correlation was observed between G894T, T786C polymorphism variants, and risk factors such as optic disc haemorrhages, optic disc notches, and peripapillary atrophy. Mean diastolic and systolic pressure during the day and night were lowest in NTG patients with the CC variant of the T786C polymorphism. No statistical correlation was observed between the G894T and T786C polymorphisms and capillaroscopic examination results., Conclusions: Genotype frequencies are similar for both the eNOS G894T and T-786C polymorphisms in NTG and HTG patients. These polymorphisms do not correlate with risk factors and do not influence the state of the capillary system in NTG patients. Systolic blood pressure is lower in NTG patients with mutated alleles of both polymorphisms.

Purpose. The aim of this study was to compare the results of optical coherence tomography angiography (OCTA) and optical coherence tomography (OCT) examinations in patients with normal-tension glaucoma (NTG) in comparison to high-tension pseudoexfoliative glaucoma (HTG) patients at the early stage of glaucoma. Material and methods. The studied groups consisted of patients in the early stage of NTG (70 eyes) and the early stage of HTG (71 eyes). In NTG and HTG groups, a detailed ophthalmic examination was performed. Optic disc OCT with peripapillary RNFL measurements and OCTA examination with the evaluation of the macula and optic disc were performed for all participants using Zeiss Cirrus 5000. Results. NTG and HTG groups were statistically similar as far as the MD was concerned, and both groups had early glaucoma. When evaluating the RNFL thickness, the only statistical difference between early NTG and HTG was observed in the thicknesses in the temporal sector of peripapillary RNFL, with thinner values in the NTG group (53.94 vs. 59.94, p = 0.0071). When the OCTA results of the macula and optic disc were evaluated, there were no statistical differences between early NTG and HTG. Conclusions. The vascular density and flow parameters assessed in OCTA were equal between early NTG and HTG, and therefore the involvement of vascular factors in NTG pathogenesis could not be confirmed. Our results confirm the preponderance of more frequent temporal RNFL involvement in early NTG. [ABSTRACT FROM AUTHOR]

The aim of this study was to evaluate the nailfold videocapillaroscopic examination results from patients with pseudoexfoliative glaucoma (XFG) and to assess the relationship between the results of this examination and the patient's clinical status in the XFG group. Material and Methods: The studied group consisted of 39 Caucasian patients with XFG and 32 patients in a control group. The patients were classified into two subgroups: the hypertensive pseudoexfoliative glaucoma (hXFG) subgroup and the normotensive pseudoexfoliative glaucoma (nXFG) subgroup. The nailfold videocapillaroscopy (NVC) was performed on all participants. The results of each NVC were classified as having a normal or abnormal pattern. Results: There was no statistical difference between the results of an abnormal NVC pattern in the study group vs. the control group (p = 0.8773). Microhemorrhages were shown in 30.0% of patients with nXFG vs. the control group (6.25%) (p = 0.0520). Microhemorrhages tended to be more frequent in the XFG group (p = 0.1221). A prevalent number of tortuous capillaries was observed in hXFG patients with advanced glaucomatous neuropathy. Dilatation in the capillaries and microbleedings were observed in the group of patients with lower IOP values. Tortuosity in the capillaries was significantly more frequent in PEXG patients (XFG vs. control: p = 0.0386). No relationships between the results of NVC and age, c/d, BCVA, time of treatment, and visual field defect were found. Conclusions: Specific features of NVC examination differentiate nXFG from hXFG patients. Some capillaroscopic features may correlate with the patient's clinical status of XFG. [ABSTRACT FROM AUTHOR]

Aim. The aim of the study was to determine the frequency of pathologies which can mimic normal-tension glaucoma (NTG), observed in neuroimaging of NTG patients, and to evaluate the frequency of pathologies in determined additional indications for neuroimaging. Material and Methods. The studied group consisted of 126 NTG patients who met at least one of the following criteria: unilateral NTG, damage in the visual field (VF) inconsistent with optic disc appearance, fast VF progression, worsening of visual acuity, predominant optic disc pallor rather than optic disc excavation, diagnosis under the age of 50, and scotoma in VF restricted by a vertical line. The patients included in the research underwent MRI scans of the brain and both orbits. Results. After neuroimaging, the results of 29 (23%) patients were qualified as positive; 18 (14.2%) of the identified pathologies were found to clinically affect the visual pathway. The most frequent brain pathology was intracranial meningiomas, observed in 4 patients (3.1%), followed by optic nerve sheath meningiomas diagnosed in 3 cases (2.4%), and brain glioma in 1 patient (0.8%). Pituitary gland adenomas were described in 6 patients (4.5%); 3 of the tumours were in contact with the optic chiasm. 53 (40%) patients had minimal ischemic changes in different regions of the brain. In the case of worsening BCVA or fast VF progression, the frequency of positive results was the highest (50% and 40%), whereas in the case of diagnosis at a young age and unilateral involvement, neuropathology was the rarest (0% and 6.9%). Conclusions. In the case of NTG, the decision to perform neuroimaging should be made after a detailed assessment of clinical status, rather in the event of finding the signs of possible compressive optic neuropathy than as an obligatory procedure for every patient. [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]

The aim of the study was to evaluate the results of nailfold videocapillaroscopic examination in patients with normal-tension glaucoma (NTG) in comparison to age-matched individuals without glaucoma and young healthy volunteers and to assess the relation between the results of this examination with clinical status in NTG group. Material and methods. The studied group consisted of 188 patients: 80 patients with NTG and 2 control groups (58 young healthy and 50 age-matched volunteers). The nailfold videocapillaroscopy (NVC) was performed in all participants. The results of every NVC were qualified as a normal or abnormal pattern. In the NTG group, ophthalmic examination was performed and medical history regarding glaucoma, chronic general disorders, and vascular risk factors was recorded. Results. In the NTG group, an abnormal NVC pattern was more common than in young controls (p = 0.0008). Microbleedings were present more frequently in NTG patients (p = 0.0365). Enlargement of capillaries (p = 0.0006) and branching capillaries (p = 0.0221) were more frequent in the NTG group compared to age-matched controls. Maximal intraocular pressure was higher in NTG patients with abnormal NVC pattern than with normal NVC (p = 0.0000). Disc hemorrhages were more frequently observed in patients with abnormal NVC pattern (p = 0.0313). Presence of paracentral scotoma was associated with abnormal NVC pattern (p = 0.0054). Conclusions. Abnormalities in nailfold capillaroscopy are more frequent in NTG patients. The results of capillaroscopic examination differ in NTG patients according to the profile of ocular and general risk factor. [ABSTRACT FROM AUTHOR]

The Aim. The aim of this study was to assess general and ocular profiles of patients with single-localisation changes in visual field. Material and Methods. The study group consisted of 215 Caucasian patients with normal-tension glaucoma with scotoma on single localisation or with preperimetric glaucoma. During regular follow-up visits, ophthalmic examination was carried out and medical history was recorded. The results of the visual field were allocated as paracentral scotomas, arcuate scotomas, peripheral defects, or hemispheric defects. Statistical analysis was conducted with Statistica 12, and p<0.05 was considered statistically significant. Results. Risk factors such as notch, disc hemorrhage, general hypertension, migraine, and diabetes were strongly associated with specific visual field defects. Paracentral defect was significantly more frequent for women (p=0.05) and patients with disc hemorrhage (p<0.001). Arcuate scotoma occurred frequently in patients without disc hemorrhage (p=0.046) or migraines (p=0.048) but was observed in coexistence with general hypertension (p<0.001). The hemispheric defect corresponded with notch (p=0.0036) and migraine (p=0.081). Initial IOP was highest in patients with arcuate scotoma and lowest in patients with preperimetric glaucoma (p=0.0120). Conclusions. The specific morphology of scotoma in patients with normal-tension glaucoma is connected with definite general and ocular risk factors. [ABSTRACT FROM AUTHOR]

The aim of this paper is to report clinically various cases of intracranial tumors in patients referred to glaucoma clinic for consultation. The secondary aim was to increase the awareness of intracranial tumors in atypical cases of glaucoma. We present the retrospective analysis of five patients referred to glaucoma clinic for consultation. Due to atypical course of the disease, in addition to standard glaucoma examinations, all patients had a neurologic full visual field, color vision, and MRI done. In all patients, intracranial malignancies were found, some patients underwent surgery of the lesions with consecutive clinical improvements. Interestingly, in some patients, coexisting glaucoma was diagnosed. Patients were selected deliberately to present a wide spectrum of possible clinical scenarios when glaucoma may be complicated by intracranial tumors. Sometimes, the relevance of intracranial tumors with respect to their influence on the clinical picture of the optic nerve cannot be established. To conclude, in the "atypical cases of glaucoma" the assessment of the optic nerve may indicate the necessity of neuroimaging in differential diagnostics. [ABSTRACT FROM AUTHOR]