scholarly journals Association of the SNP rs112369934 near TRIM66 Gene with POAG Endophenotypes in African Americans

Genes ◽  
2021 ◽  
Vol 12 (9) ◽  
pp. 1420
Author(s):  
Claire D. Kim ◽  
Harini V. Gudiseva ◽  
Brendan McGeehan ◽  
Ebenezer Daniel ◽  
Gui Shuang Ying ◽  
...  

We investigated the association of the single nucleotide polymorphism (SNP) rs112369934 near the TRIM66 gene with qualitative and quantitative phenotypes of primary open-angle glaucoma (POAG) in African Americans (AA). AA subjects over 35 years old were recruited for the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study in Philadelphia, PA. Glaucoma cases were evaluated for phenotypes associated with POAG pathogenesis, and the associations between rs112369934 and phenotypes were investigated by logistic regression analysis and in gender-stratified case cohorts: The SNP rs112369934 was found to have a suggestive association with retinal nerve fiber layer (RNFL) thickness and cup-to-disc ratio (CDR) in 1087 male AA POAG cases, individuals with the TC genotype having thinner RNFL (95% CI 0.85 to 6.61, p = 0.01) and larger CDR (95% CI −0.07 to −0.01, p = 0.02) than those with wildtype TT. No other significant associations were found. In conclusion SNP rs112369934 may play a role in POAG pathogenesis in male AA individuals. However, this SNP has been implicated in higher POAG risk in both male and female AA POAG cases.

2020 ◽  
Vol 37 (1) ◽  
Author(s):  
Bakht Samar Khan ◽  
Abid Nawaz ◽  
Lyla Shami ◽  
Zubaida Irshad ◽  
Mansoor Ahmad

Purpose:  To compare the corneal endothelial cell density (CED) and retinal nerve fiber layer thickness (RNFL) in primary open angle glaucoma (POAG), normal tension glaucoma (NTG) and ocular hypertension (OHT). Study Design:  Cross sectional Observational study. Place and Duration of Study:  Khyber Teaching Hospital, Peshawar, from April 2016 to March 2018. Methods:   Patients having a single IOP reading of 21 mm Hg or more with glaucomatous cupping, visual field defect and open angle were labeled as POAG. Patients with IOP less than 21 mm Hg with same findings were labeled as NTG. Those eyes with raised IOP (more than 21 mm Hg), normal visual field and optic disc were labeled as OHT. Corneal endothelial cell count, central corneal thickness and retinal nerve fiber layer (RNFL) thickness were measured in patients of POAG, NTG and OHT. These were compared with normal age matched values. Results:  Thirty eyes with POAG, 10 with OHT and 10 with NTG were included in the study. In patients with POAG there was 13.33% CED and 27.7% mean RNFL thickness loss. In patients with NTG there was 3.06% CED and 34.04% mean RNFL thickness loss. In patients with OHT there was 7.17% CED and 5.5% mean RNFL thickness loss. Conclusion:  The loss of both RNFL thickness and CED occurs in POAG, OHT and NTG. Severe loss of RNFL thickness occurs in POAG and NTG while severe loss of CED occurs in POAG and OHT. Mild loss of RNFL thickness occurs in OHT while mild loss of CED occurs in NTG. Key Words:  Specular Microscopy, Optical Coherence Tomography, Nerve Fiber Layer, Open Angle Glaucoma, Ocular Hypertension.


2019 ◽  
Author(s):  
Aleksandar Miljkovic ◽  
Nikola Babic ◽  
Davidovic Sofija ◽  
Sava Barisic ◽  
Jelena Ljikar ◽  
...  

Abstract Background The purpose of this study was to determine the difference in peripapillary retinal nerve fiber layer (RNFL) thickness in patients with preperimetric glaucoma and open angle glaucoma (POAG) in comparison to healthy population, as well as to determine the difference in thickness of peripapillary RNFL according to progression of the disease.Methods In this study, 120 patients were included . On the basis of clinical finding four groups of patients were formed: group without glaucoma, early POAG group, moderate POAG group and group with preperimetric glaucoma. Complete ophthalmological examination, visual field and optic coherent tomography of peripapillar region of RNFL were performed. The collected data was entered into a specially created database on a personal account, and the statistical processing was done using the SPSS for Windows. Results are displayed through charts and tables.Results The results showed that the thickness of peripapillary RNFL in patients with mild POAG is lesser than in healthy subjects, and thickness in patients with moderate POAG is lesser than in patients with mild POAG, as well as in healthy subjects (59.69±10.63 μm vs 73.44±12.16 μm vs 105.57±11.34 μm). Thickness of peripapillary RNFL in patients with preperimetric glaucoma is significantly lesser than in healthy subjects (83.65±9.24 μm vs 105.57±11. 34 μm). Parameter S together with mean value of peripapillary RNFL thickness (AvgThic) is the best predictors of appearance and progression of preperimetric glaucoma. There is positive correlation between progression of glaucoma (MD value) and AvgThic. The best predictors of appearance and progression of glaucomatous disease are: AvgThic, RNFL thickness in quadrants- S, I, N; and parameters RNFL- Smax, Savg, Iavg. ROC curve has shown that the following parameters are bad markers for progression of the disease: RNFL thickness in quadrant T and Imax.Conclusions We concluded that the determination of thickness of peripapillary RNFL in patients with glaucoma using optical coherent tomography represents the method which distinguishes between patients with POAG, preperimetric glaucoma and healthy population hence it can be used in glaucoma diagnostics and follow-up.


2017 ◽  
Vol 2017 ◽  
pp. 1-8 ◽  
Author(s):  
Christoph Nützi ◽  
Andreas Schötzau ◽  
Matthias C. Grieshaber

Purpose. To evaluate clinically activated retinal astrocytes and Müller cells (ARAM) regarding retinal sensitivity and retinal nerve fiber layer (RNFL) thickness in primary open-angle glaucoma (POAG). Methods. Central visual field (VF; i.e., retinal sensitivity) was measured with a custom-made macular pattern by microperimetry and correlated with the presence (ARAM+) or absence (ARAM−) of ARAM on red-free fundus photography and with the corresponding RNFL by optical coherence tomography (OCT). Results. In the eyes of POAG patients, ARAM+ had overall a significantly lower retinal sensitivity (ARAM+: 7.34 dB, ARAM−: 11.9 dB; p<0.001) and lower RNFL thickness in the inferior peripapillary quadrants compared to ARAM− (RNFL superior: ARAM+ 74.2 μm, ARAM− 77.5 μm; RNFL temporal: ARAM+ 46.8 μm, ARAM− 53.0 μm, p<0.001; and RNFL inferior: ARAM+ 63.2 μm, ARAM− 73.1 μm, p<0.001). Within the same eye, ARAM+ showed a lower retinal sensitivity compared to ARAM− ([ARAM− (11.13 dB)] − [ARAM+ (9.56 dB) = 1.57 dB; p=0.25). The proportion of ARAM+ per eye correlated strongly with reduced retinal light sensitivity (p=0.02), corresponding lower peripapillary RNFL thickness (p=0.02), and lower RNFL temporal quadrant thickness (p<0.01), but not with greater age (p=0.45). Conclusion. ARAM was more frequently identified in the eyes with a lower retinal sensitivity and peripapillary RNFL thickness and may be a clinical sign in the macula for an advanced stage of POAG.


2020 ◽  
pp. 66-66
Author(s):  
Natasa Civcic-Kalinic ◽  
Miroslav Stamenkovic ◽  
Nada Civcic ◽  
Stefan Brunet

Introduction/Objective. In patients with primary open-angle glaucoma (POAG) we explored the relationship between optic nerve head (ONH) topography parameters and retinal nerve fiber layer (RNFL) thickness with central corneal thickness (CCT). Methods. This retrospective study included 97 patients (97 eyes) with primary open-angle glaucoma. Patients were divided into a thin CCT<540?m (45 eyes) and a thick CCT?540?m (52 eyes) group, using ultrasonic pachymeter. Topographic measurements of the ONH parameters and RNFL thickness was performed using optical coherence tomography (OCT). The outcomes were compared with the thin and thick CCT and correlated with the thin CCT of the subjects. Results. There were significantly lower mean intraocular pressure (IOP) (p<0.0001) and CCT (p<0.0001) in patients with thin CCT compared to patients with thick CCT. Statistically significant differences of ONH parameters were found in thin cornea group compared to thick cornea group in: cup/disc area ratio (p<0.03), vertical cup/disc ratio (p<0.01) and rim volume (p<0.01). Statistically significant differences of RNFL thickness were found in thin cornea group compared to thick cornea group in: average (p<0.001), superior (p<0.03), inferior (p<0.03) and nasal (p<0.01). Significant positive correlation was found between thin CCT and OCT parameters in: optic disc area (r=0.429, p=0.003), cup/disc area ratio (r=0.287, p=0.05), horizontal cup/disc ratio (r=0.472, p<0.001), vertical cup/disc ratio (r=0.578, p<0.001), average RNFL (r=0.796, p<0.001), superior RNFL (r=0.665, p<0.001), inferior RNFL (r=0.650, p<0.001), nasal RNFL (r=0.611, p<0.001) and temporal RNFL thickness (r=0.601, p<0.001). Conclusion. POAG patients with thin cornea will probably develop larger glaucoma changes than those with a thicker cornea. Ultrasonic pachymetry measurements of CCT and OCT analysis of ONH topography parameters and RNFL thickness provide significant information in early diagnosis and monitoring progression of POAG.


2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Michael Mimouni ◽  
Hadas Stiebel-Kalish ◽  
Irena Serov ◽  
Gabriel Chodick ◽  
Mohammad Zbedat ◽  
...  

Purpose. This study aimed to differentiate patients with bilateral disc cupping associated with suprasellar tumor from patients with open-angle glaucoma by analyzing differences in optical coherence tomography (OCT) of the optic nerve. Methods. In this retrospective cross-sectional study, we collected data from the eyes of 25 patients with suprasellar craniopharyngioma or pituitary macroadenomas (group 1) and 35 patients with primary open-angle glaucoma (POAG) (group 2), seen between 2001 and 2015, all with a visual acuity of ≥20/40, for whom Stratus Time-Domain (TD) optic nerve OCT scans were available. The main outcome measures were the retinal nerve fiber layer (RNFL) thickness, disc area, cup volume, cup/disc ratio, and rim area. Results. A total of 31 patients met the inclusion criteria and were included in the study: 16 with suprasellar tumors and 15 with POAG. Both groups were similar in terms of gender and age (P>0.05). The glaucoma group had a borderline greater total RNFL thickness (74.2 μm versus 62.8 μm, P=0.07), disc area (2.70 mm2 versus 2.16 mm2, P=0.004), and cup volume (0.20 mm3 versus 0.08 mm3, P=0.02). In multivariate, glaucoma was associated with increased total RNFL thickness (OR = 1.116 per μm, P=0.008), increased disc area (OR = 2.402 per 100 μm2, P=0.002), and decreased rim area (OR = 0.272 per 100 μm2, P=0.011). Of these, the parameter with the greatest AUC was the disc area (AUC = 0.79). Using the Youden index, the optimal cut-off point identified for stratification was a disc area greater than 2.33 μm2. Conclusions. In patients with bilateral disc cupping, a decreased total RNFL thickness and smaller disc area seem to be associated with suprasellar tumors (when compared with open-angle glaucoma). These findings may aid in early diagnosis of cupping from suprasellar tumors, before compressive visual loss occurs.


2014 ◽  
Vol 3 (1) ◽  
Author(s):  
Kemala Sayuti ◽  
Harmen Harmen ◽  
Hondrizal Hondrizal

AbstrakTujuan penelitian ini adalah untuk menilai pengaruh lamanya pemberian citicoline dalam memperbaiki kualitas RNFL dan lapang pandangan pada POAG. Penelitian ini dilakukan pada pasien POAG yang datang dari bulan September 2010 – Januari 2011 dengan tehnik consecutive sampling. Semua subjek penelitian yang sudah diskrining dilakukan pemeriksaan OCT dan perimetri segera sebelum pemberian citicoline, pemeriksaan ulangan dilakukan setelah 10 hari pertama, 10 hari kedua, dan 10 hari ketiga pemberian citicoline. Dari penelitian ini didapatkan perbaikan ketebalan RNFL dengan pemeriksaan OCT lebih banyak terjadi pada pemberian citicoline selama 10 hari III (45.7%) dibandingkan dengan pemberian 10 hari I (25,7%) dan 10 hari II (42,9%). Perbaikan mean sensitivity lapang pandangan dengan pemeriksaan perimetri lebih banyak terjadi pada pemberian citicoline selama 10 hari III (51,4%) dibandingkan dengan pemberian 10 hari I (32.4%) dan 10 hari II (37.2%). Lama pemberian citicoline sangat berpengaruh meningkatkan ketebalan RNFL dengan pemeriksaan OCT dan mean sensitivity lapang pandangan dengan pemeriksaan perimetri pada pasien POAG dan bermakna secara statistik dengan p=0.000 dan p=0.001Kata kunci: Primary Open Angle Glaucoma, Retinal Nerve Fiber Layer, CiticolineAbstractThe objective of this study was to assessing the influence of duration of citicoline administration in improve the quality of RNFL and visual field in POAG. The study was conducted in patients with POAG who take place in September 2010 - January 2011 with consecutive sampling technique. After screening examination, subjects underwent OCT examination and early perimetry after the administration of citicoline, re-examination were in first 10 days, second 10 days, and third 10 days. RNFL thickness by OCT examination were much more going in citicoline administered for the third 10 days (45.7%) compared with the provision of first 10 days (25.7%) and second 10 day (42.9%). Mean sensitivity improvements with visual field perimetry examination occurs more frequently in the administration of citicoline for the third 10 days (51.4%), compared with 10 days of first administration (32.4%) and second 10 days (37.2%). Length of citicoline administration is influencing of RNFL thickness in OCT examination and improvement of the mean sensitivity of perimetry examination in patients with POAG and statistically significant, each with p = 0.000 and p = 0.001.Keywords: Primary Open Angle Glaucoma, Retinal Nerve Fiber Layer, Citicoline


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