Endothelin-1 (ET-1) is a potent vasoconstrictor and is considered to have a key role in the regulation of ocular perfusion and glaucoma pathogenesis. High ET-1 and ET A -receptor levels are reported in patients with primary open-angle glaucoma (POAG). We compared the mean plasma ET-1 and ET Areceptor concentration of controls and patients with early and advanced POAG stage, and assessed the correlation with the retinal nerve fibre layer (RNFL) thickness. The study included a total of 75 participants, aged 45-83 years: 25 (controls), 22 (early glaucoma) and 28 (advanced glaucoma). The plasma concentration of ET-1 and ET A -receptor was determined by enzyme-linked immunosorbent assay. The RNFL thickness was evaluated with spectral-domain optical coherence tomography. The mean ET-1 concentration was lower in the control group (4.88 § 1.75 pg/mL) than in the early and advanced POAG group (6.33 § 2.38 and 6.34 § 1.56 pg/mL). Statistically significant difference was found between the mean ET-1 concentrations in controls and glaucoma patients (p = 0.029 -early glaucoma, p = 0.018 -advanced glaucoma), and no significant difference was observed between the two POAG groups (p = 0.998). The mean ET A -receptor concentration was highest in the control group (1209.28 § 314.48 pg/mL) and the differences between the three groups were significant. Significant relationship was found only between ET-1 and RNFL. This study demonstrated the role of ET-1 in glaucoma pathogenesis based on the observed significant high ET-1 and ET A -receptor plasma levels in POAG patients. A new therapeutical approach needs to be considered in some patients.

No abstract

The aim of our research is to assess and compare the peripapillary retinal nerve fiber layer (pRNFL) thickness diagnostic capability with those of three macular parametersmacular RNFL (mRNFL) thickness, GCL+ (ganglion cell layer with inner plexiform layer thickness), and GCL++ (mRNFL and GCL+) in primary open-angle glaucoma patients with spectral-domain optical coherence tomography (SD-OCT). The 414 participants (483 eyes) aged 45-84 years in this prospective study were recruited from Eye Clinic at the University Hospital "Alexandrovska" (Sofia, Bulgaria). They were divided into 6 groups: controls, ocular hypertension, preperimetric glaucoma (PPG), and three groups of perimetric glaucoma stages-early, moderate, and advanced. OCT was performed using Topcon 3D OCT 2000 device, as eight parameters from two protocols (Circle and Glaucoma Analysis-Macula) were analyzed. The results showed that the RNFL highest diagnostic capability parameter is Total mRNFL (AUROC 0.879 in PPG and 0.929 in early glaucoma stage). The macular highest diagnostic accuracy parameter was found GCL++ without any significance from mRNFL diagnostic possibilities. The results of current research showed that mRNFL possesses high diagnostic accuracy in comparison analysis with other pRNFL and macular OCT parameters in early glaucomatous changes. Macular RNFL and its highest diagnostic possibilities could be successfully used as an individual diagnostic parameter separated from the whole ganglion cell complex in the early glaucoma changes.

Background Next‐generation sequencing (NGS)‐based method is being used broadly for genetic testing especially for clinically and genetically heterogeneous disorders, such as inherited retinal degenerations (IRDs) but still not routinely used for molecular diagnostics in Bulgaria. Consequently, the purpose of this study was to evaluate the effectiveness of a molecular diagnostic approach, based on targeted NGS for the identification of the disease‐causing mutations in 16 Bulgarian patients with different IRDs. Methods We applied a customized NGS panel, including 125 genes associated with retinal and other eye diseases to the patients with hereditary retinopathies. Results Systematic filtering approach coupled with copy number variation analysis and segregation study lead to the identification of 16 pathogenic and likely pathogenic variants in 12/16 (75%) of IRD patients, 2 of which novel (12.5%): ABCA4‐ c.668delA (p.K223Rfs18) and RР1‐ c.2015dupA (p.K673Efs*25). Mutations in the ABCA4, PRPH2, USH2A, BEST1, RР1, CDHR1 , and RHO genes were detected reaching a diagnostic yield between 42.9% for Retinitis pigmentosa cases and 100% for macular degeneration, Usher syndrome, and cone‐rod dystrophy patients. Conclusion Our results confirm the usefulness of targeted NGS approach based on frequently mutated genes as a comprehensive and successful genetic diagnostic tool for IRDs with significant impact on patients counseling.

To investigate mean peripapillary retinal nerve ber layer (RNFL) and parameters of macula for glaucoma analysis (RNFL Thickness, GCL+, GCL++) with Topcon 3D OCT 2000+ in healthy children and adults and to determine their physiological asymmetry between the right and left eye, as well as its change with age.To study the effects of axial length (Ax) and Disc area on RNFL thickness and macular parameters. Material and methods: In this study 420 eyes of 210 patients aged 7-85 years were enrolled. All of them were examined in the Department of Ophthalmology, Medical University Alexandrovska Hospital, So a for period of 09.2014-08.2015. Patients are divided into 4 groups by age and 1 group RNFL-Disc rea. All of them underwent optical coherence tomography-3D Disc, Circle, Macula Glaucoma Analysis. In order to evaluate the physiological asymmetry intraclass correlation coef cients were introduced. Results: Peripapillary RNFL is thickest in the group of children. With age RNFL thickness tends to get smaller. Statistically signi cant differences in RNFL thickness between the group of children and young adults are found only in two segment parameters. Physiologic asymmetry in RNFL thickness between the right and left eye increases with age, the larger loss of nerve bers in the left eye. Pearson's analysis showed a negative correlation of the RNFL/macular parameters with Ax, and positive correlation of RNFL/macular parameters with Disc area. There is no correlation of the macular RNFL thickness with Ax/DiscArea. Conclusions: The color results in children protocols could be considered reliable for the diagnostic assessment of the clinicians, despite the absence of a normative database for individuals under 18 years of age. The asymmetry of retinal parameters might be valuable in assessing certain early diseases. Physiological asymmetry increases with ageandthis should come into consideration, when cliniciansexamine patients with different ages.