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Article ; Online: Primary angle closure glaucoma genomic associations and disease mechanism.

Liu, Chang / Nongpiur, Monisha E / Khor, Chiea-Chuen / Vithana, Eranga N / Aung, Tin

2020 Volume 31, Issue 2, Page(s) 101–106

Abstract: Purpose of review: The genetic basis of primary angle closure (PAC) glaucoma is slowly being elucidated. In recent years, genome-wide association studies have identified eight new susceptibility loci for PAC. Our purpose in this review is to summarize ... ...

Abstract	Purpose of review: The genetic basis of primary angle closure (PAC) glaucoma is slowly being elucidated. In recent years, genome-wide association studies have identified eight new susceptibility loci for PAC. Our purpose in this review is to summarize our current knowledge of genetics in angle closure, to take a closer look at the eight novel loci and what we have learned about their function, and consider what they might teach us about angle closure disease. Recent findings: Multiple novel loci associated with PAC glaucoma have been identified in large genome-wide association studies. Moreover, primary open angle glaucoma and PAC glaucoma are found to have partly overlapping genetic features. Summary: The genetic basis of PAC glaucoma is being deciphered. Even though there is still much more to be uncovered, this process has already provided new insights in the pathogenesis of this blinding disease. A better understanding of the pathogenic mechanisms through genomics may be valuable for the development of novel therapies.
MeSH term(s)	Genome-Wide Association Study ; Genomics ; Glaucoma, Angle-Closure/genetics ; Glaucoma, Angle-Closure/physiopathology ; Humans
Language	English
Publishing date	2020-01-14
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	1049383-9
ISSN	1531-7021 ; 1040-8738
ISSN (online)	1531-7021
ISSN	1040-8738
DOI	10.1097/ICU.0000000000000645
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Article ; Online: RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations.

Chan, Choi Mun / Tan, Tien-En / Jain, Kanika / Bylstra, Yasmin / Mathur, Ranjana S / Tang, Rachael W C / Lee, Brian J H / Jamuar, Saumya S / Kam, Sylvia / Vithana, Eranga N / Lim, Weng Khong / Fenner, Beau J

Retina (Philadelphia, Pa.)

2023 Volume 43, Issue 10, Page(s) 1788–1796

Abstract: Purpose: The study aimed to describe the phenotypic features of retinitis pigmentosa (RP) associated with the previously described EYS C2139Y variant in Singaporeans and establish the importance of this variant as a prevalent cause of RP among East ... ...

Abstract	Purpose: The study aimed to describe the phenotypic features of retinitis pigmentosa (RP) associated with the previously described EYS C2139Y variant in Singaporeans and establish the importance of this variant as a prevalent cause of RP among East Asians. Methods: A clinical phenotyping and exome-sequencing study was conducted on consecutive patients with nonsyndromic RP. Epidemiological analysis was performed using Singaporean and global population-based genetic data. Results: A study of 150 consecutive unrelated individuals with nonsyndromic RP found that 87 (58%) of cases had plausible genotypes. A previously described missense variant in the EYS gene, 6416G>A (C2139Y), occurred heterozygously or homozygously in 17 of 150 families (11.3%), all with autosomal recessive RP. Symptom onset in EYS C2139Y-related RP ranged from 6 to 45 years, with visual acuity ranging from 20/20 at 21 years to no light perception by 48 years. C2139Y-related RP had typical findings, including sectoral RP in cases with EYS E2703X in trans . The median age at presentation was 45 years and visual fields declined to less than 20° (Goldmann V4e isopter) by age 65 years. Intereye correlation for visual acuity, fields, and ellipsoid band width was high (r 2 = 0.77-0.95). Carrier prevalence was 0.66% (allele frequency of 0.33%) in Singaporean Chinese and 0.34% in East Asians, suggesting a global disease burden exceeding 10,000 individuals. Conclusion: The EYS C2139Y variant is common in Singaporean RP patients and other ethnic Chinese populations. Targeted molecular therapy for this single variant could potentially treat a significant proportion of RP cases worldwide.
MeSH term(s)	Aged ; Humans ; Blindness/diagnosis ; Blindness/epidemiology ; Blindness/ethnology ; Blindness/genetics ; DNA Mutational Analysis ; East Asian People/genetics ; Eye Proteins/genetics ; Mutation ; Pedigree ; Retinitis Pigmentosa/diagnosis ; Retinitis Pigmentosa/epidemiology ; Retinitis Pigmentosa/ethnology ; Retinitis Pigmentosa/genetics
Chemical Substances	Eye Proteins ; EYS protein, human
Language	English
Publishing date	2023-07-10
Publishing country	United States
Document type	Journal Article
ZDB-ID	603192-4
ISSN	1539-2864 ; 0275-004X
ISSN (online)	1539-2864
ISSN	0275-004X
DOI	10.1097/IAE.0000000000003874
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Article ; Online: Association of peripheral anterior synechiae with anterior segment parameters in eyes with primary angle closure glaucoma.

Loo, Yunhua / Tun, Tin A / Vithana, Eranga N / Perera, Shamira A / Husain, Rahat / Wong, Tina T / Aung, Tin / Nongpiur, Monisha E

Scientific reports

2021 Volume 11, Issue 1, Page(s) 13906

Abstract: To investigate the association of peripheral anterior synechiae (PAS) with intraocular pressure (IOP) and anterior-segment parameters in subjects with primary angle-closure glaucoma (PACG). A total of 267 subjects with PACG were recruited and underwent ... ...

Abstract	To investigate the association of peripheral anterior synechiae (PAS) with intraocular pressure (IOP) and anterior-segment parameters in subjects with primary angle-closure glaucoma (PACG). A total of 267 subjects with PACG were recruited and underwent gonioscopy and anterior-segment optical coherence tomography (ASOCT). Customized software was used to measure ASOCT parameters, including angle opening distance (AOD750) and trabecular-iris-space-area (TISA750) at 750 µm from the scleral spur, anterior chamber depth, width, area and volume (ACD, ACW, ACA, ACV), iris thickness (IT750), iris area (IAREA), and lens vault (LV). Presenting IOP was defined as the first IOP reading before the initiation of IOP-lowering treatment. The mean age of the 267 subjects was 67.0 ± 8.9 years, 140 (52.4%) were male, and 246 (92.1%) were of Chinese ethnicity. PAS was present in 122 (45.7%) subjects, and was most frequently found in the superior quadrant (79.5%). Subjects with PAS had greater presenting IOP (28.7 ± 12.9 vs 22.4 ± 9.7 mmHg, p < 0.001), narrower AOD750 (p < 0.001), smaller TISA750 (p < 0.001), ACD (p = 0.04), ACA (p = 0.02), ACV (p = 0.01) and larger LV (p = 0.01) compared to PACG eyes without PAS. No significant differences were noted for iris parameters. A multivariate logistic regression analysis showed that higher presenting IOP (β = 0.20, p < 0.001), worse visual field mean deviation (β = - 0.20, p = 0.01) and narrower AOD750 (β = - 0.25, p = 0.03) were the only parameters that significantly correlated with the extent of PAS in clock hours. Almost one-half of the subjects with PACG demonstrated PAS; these eyes were associated with higher presenting IOP, smaller anterior segment dimensions and more severe disease.
MeSH term(s)	Aged ; Anterior Eye Segment/pathology ; Anterior Eye Segment/physiopathology ; Female ; Glaucoma, Angle-Closure/pathology ; Glaucoma, Angle-Closure/physiopathology ; Humans ; Intraocular Pressure ; Iris Diseases/pathology ; Iris Diseases/physiopathology ; Male ; Risk Factors ; Severity of Illness Index
Language	English
Publishing date	2021-07-06
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-021-93293-7
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Article ; Online: Comparison of machine learning approaches for structure-function modeling in glaucoma.

Wong, Damon / Chua, Jacqueline / Bujor, Inna / Chong, Rachel S / Nongpiur, Monisha E / Vithana, Eranga N / Husain, Rahat / Aung, Tin / Popa-Cherecheanu, Alina / Schmetterer, Leopold

Annals of the New York Academy of Sciences

2022 Volume 1515, Issue 1, Page(s) 237–248

Abstract: To evaluate machine learning (ML) approaches for structure-function modeling to estimate visual field (VF) loss in glaucoma, models from different ML approaches were trained on optical coherence tomography thickness measurements to estimate global VF ... ...

Abstract	To evaluate machine learning (ML) approaches for structure-function modeling to estimate visual field (VF) loss in glaucoma, models from different ML approaches were trained on optical coherence tomography thickness measurements to estimate global VF mean deviation (VF MD) and focal VF loss from 24-2 standard automated perimetry. The models were compared using mean absolute errors (MAEs). Baseline MAEs were obtained from the VF values and their means. Data of 832 eyes from 569 participants were included, with 537 Asian eyes for training, and 148 Asian and 111 Caucasian eyes set aside as the respective test sets. All ML models performed significantly better than baseline. Gradient-boosted trees (XGB) achieved the lowest MAE of 3.01 (95% CI: 2.57, 3.48) dB and 3.04 (95% CI: 2.59, 3.99) dB for VF MD estimation in the Asian and Caucasian test sets, although difference between models was not significant. In focal VF estimation, XGB achieved median MAEs of 4.44 [IQR 3.45-5.17] dB and 3.87 [IQR 3.64-4.22] dB across the 24-2 VF for the Asian and Caucasian test sets and was comparable to VF estimates from support vector regression (SVR) models. VF estimates from both XGB and SVR were significantly better than the other models. These results show that XGB and SVR could potentially be used for both global and focal structure-function modeling in glaucoma.
MeSH term(s)	Glaucoma ; Humans ; Intraocular Pressure ; Machine Learning ; Retrospective Studies ; Tomography, Optical Coherence/methods ; Vision Disorders ; Visual Fields
Language	English
Publishing date	2022-06-21
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	211003-9
ISSN	1749-6632 ; 0077-8923
ISSN (online)	1749-6632
ISSN	0077-8923
DOI	10.1111/nyas.14844
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Article ; Online: Evaluation of Generative Adversarial Networks for High-Resolution Synthetic Image Generation of Circumpapillary Optical Coherence Tomography Images for Glaucoma.

Sreejith Kumar, Ashish Jith / Chong, Rachel S / Crowston, Jonathan G / Chua, Jacqueline / Bujor, Inna / Husain, Rahat / Vithana, Eranga N / Girard, Michaël J A / Ting, Daniel S W / Cheng, Ching-Yu / Aung, Tin / Popa-Cherecheanu, Alina / Schmetterer, Leopold / Wong, Damon

JAMA ophthalmology

2022 Volume 140, Issue 10, Page(s) 974–981

Abstract: Importance: Deep learning (DL) networks require large data sets for training, which can be challenging to collect clinically. Generative models could be used to generate large numbers of synthetic optical coherence tomography (OCT) images to train such ... ...

Abstract	Importance: Deep learning (DL) networks require large data sets for training, which can be challenging to collect clinically. Generative models could be used to generate large numbers of synthetic optical coherence tomography (OCT) images to train such DL networks for glaucoma detection. Objective: To assess whether generative models can synthesize circumpapillary optic nerve head OCT images of normal and glaucomatous eyes and determine the usability of synthetic images for training DL models for glaucoma detection. Design, setting, and participants: Progressively growing generative adversarial network models were trained to generate circumpapillary OCT scans. Image gradeability and authenticity were evaluated on a clinical set of 100 real and 100 synthetic images by 2 clinical experts. DL networks for glaucoma detection were trained with real or synthetic images and evaluated on independent internal and external test data sets of 140 and 300 real images, respectively. Main outcomes and measures: Evaluations of the clinical set between the experts were compared. Glaucoma detection performance of the DL networks was assessed using area under the curve (AUC) analysis. Class activation maps provided visualizations of the regions contributing to the respective classifications. Results: A total of 990 normal and 862 glaucomatous eyes were analyzed. Evaluations of the clinical set were similar for gradeability (expert 1: 92.0%; expert 2: 93.0%) and authenticity (expert 1: 51.8%; expert 2: 51.3%). The best-performing DL network trained on synthetic images had AUC scores of 0.97 (95% CI, 0.95-0.99) on the internal test data set and 0.90 (95% CI, 0.87-0.93) on the external test data set, compared with AUCs of 0.96 (95% CI, 0.94-0.99) on the internal test data set and 0.84 (95% CI, 0.80-0.87) on the external test data set for the network trained with real images. An increase in the AUC for the synthetic DL network was observed with the use of larger synthetic data set sizes. Class activation maps showed that the regions of the synthetic images contributing to glaucoma detection were generally similar to that of real images. Conclusions and relevance: DL networks trained with synthetic OCT images for glaucoma detection were comparable with networks trained with real images. These results suggest potential use of generative models in the training of DL networks and as a means of data sharing across institutions without patient information confidentiality issues.
MeSH term(s)	Humans ; Tomography, Optical Coherence/methods ; Visual Fields ; Deep Learning ; Glaucoma/diagnosis ; Optic Disk/diagnostic imaging
Language	English
Publishing date	2022-09-01
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2701705-9
ISSN	2168-6173 ; 2168-6165
ISSN (online)	2168-6173
ISSN	2168-6165
DOI	10.1001/jamaophthalmol.2022.3375
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Article ; Online: Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci for Estimating Angle Closure Disease Severity.

Liu, Chang / Nongpiur, Monisha E / Cheng, Ching-Yu / Khor, Chiea-Chuen / Yu, Marco / Husain, Rahat / Ho, Ching Lin / Wong, Tina T / Boey, Pui Yi / Perera, Shamira / Wong, Tien Yin / Vithana, Eranga N / Aung, Tin

Ophthalmology

2020 Volume 128, Issue 3, Page(s) 403–409

Abstract: Purpose: To investigate whether recently identified genetic loci for primary angle-closure glaucoma (PACG) are associated with disease severity.: Design: Case-control study.: Participants: Eight hundred four PACG patients and 943 control ... ...

Abstract	Purpose: To investigate whether recently identified genetic loci for primary angle-closure glaucoma (PACG) are associated with disease severity. Design: Case-control study. Participants: Eight hundred four PACG patients and 943 control participants of Chinese ethnicity from Singapore. Methods: The 8 PACG-associated single nucleotide polymorphisms (SNPs; rs11024102 at PLEKHA7, rs3753841 at COL11A1, rs1015213 located between PCMTD1 and ST18 on chromosome 8q, rs3816415 at EPDR1, rs1258267 at CHAT, rs736893 at GLIS3, rs7494379 at FERMT2, and rs3739821 mapping in between DPM2 and FAM102A) identified from genome-wide association studies were tested for association with disease severity using logistic regression adjusted for age and gender. A P value of 0.006 was set as significant after Bonferroni correction for testing of 8 loci. We also calculated the weighted genetic risk score (GRS) weighted by the estimated individual SNP effect size on PACG calculated as logarithm of the odds ratio (OR). Disease severity was based on the visual field mean deviation (MD) and classified as early to moderate (MD, >-12 dB) and severe (MD, <-20 dB). Main outcome measures: Association of PACG loci with severe disease. Results: Of the 804 PACG patients, genotyping data were available for 768 individuals and included 436 with mild-to-moderate PACG and 206 with severe PACG. The PACG patients were significantly older (mean age, 64.3 ± 9.1 years vs. 56.4 ± 8.9 years; P < 0.001) and there were proportionately more women compared with control participants (58.4% vs. 49.0%; P < 0.001). Of the 8 loci investigated, we observed significant evidence of association with severe PACG at 1 SNP, namely rs3816415 in EPDR1 (OR, 2.03; 95% confidence interval [CI], 1.49-2.78; P = 1 × 10 Conclusions: Our results show that EPDR1 is associated significantly with severe PACG, suggesting that it may predispose patients to more aggressive disease development. Individuals with PACG with a higher GRS were associated with a higher risk of severe PACG.
MeSH term(s)	Aged ; Case-Control Studies ; Female ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study ; Genotyping Techniques ; Glaucoma, Angle-Closure/diagnosis ; Glaucoma, Angle-Closure/genetics ; Humans ; Male ; Middle Aged ; Neoplasm Proteins/genetics ; Nerve Tissue Proteins/genetics ; Odds Ratio ; Polymorphism, Single Nucleotide ; Risk Factors ; Severity of Illness Index
Chemical Substances	EPDR1 protein, human ; Neoplasm Proteins ; Nerve Tissue Proteins
Language	English
Publishing date	2020-07-16
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	392083-5
ISSN	1549-4713 ; 0161-6420
ISSN (online)	1549-4713
ISSN	0161-6420
DOI	10.1016/j.ophtha.2020.07.027
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Article ; Online: Factors affecting the diagnostic performance of circumpapillary retinal nerve fibre layer measurement in glaucoma.

Wong, Damon / Chua, Jacqueline / Baskaran, Mani / Tan, Bingyao / Yao, Xinwen / Chan, Samuel / Tham, Yih Chung / Chong, Rachel / Aung, Tin / Lamoureux, Ecosse Luc / Vithana, Eranga N / Cheng, Ching Yu / Schmetterer, Leopold

The British journal of ophthalmology

2020 Volume 105, Issue 3, Page(s) 397–402

Abstract: Background/aims: To identify factors that influence the diagnostic performance of circumpapillary retinal nerve fibre layer (RNFL) thickness measurements in the detection of primary open-angle glaucoma (POAG).: Methods: 1592 eyes from 1076 healthy ... ...

Abstract	Background/aims: To identify factors that influence the diagnostic performance of circumpapillary retinal nerve fibre layer (RNFL) thickness measurements in the detection of primary open-angle glaucoma (POAG). Methods: 1592 eyes from 1076 healthy controls and 758 eyes from 502 patients with POAG underwent optical coherence tomography (OCT) imaging to assess RNFL parameters. Visual field (VF) mean deviation (MD) from standard automated perimetry was used to indicate severity in subjects with glaucoma. Results: RNFL thickness significantly decreased with age (ρ=-0.10 to -0.16, p<0.001) and increased with spherical equivalent (SE) refractive error (ρ=0.23-0.29, p<0.001) in healthy and glaucoma groups but showed a significant reduction with SE (ρ=-0.20, p<0.001) in the temporal RNFL of healthy subjects. RNFL measurements significantly decreased with VF MD (ρ=0.08-0.53, p<0.05) in subjects with POAG. When healthy subjects and subjects with glaucoma were matched to subgroups within a factor, significant differences in area under the curve (AUC) between subgroups were only found with SE AUCs increased significantly with disease severity, particularly in the global, inferior and superior measurements (p<0.001). Overall, the diagnostic performance of the inferior and global RNFL measurements were found to be more resilient to different factors. Conclusion: Diagnostic accuracy in glaucoma was influenced by SE but could be mitigated by using controls with similar refractive characteristics. Increasing disease severity led to significantly better diagnostic accuracy. These factors should be considered when using OCT for glaucoma diagnosis in practice.
MeSH term(s)	Adult ; Aged ; Cross-Sectional Studies ; Follow-Up Studies ; Glaucoma/diagnosis ; Glaucoma/physiopathology ; Humans ; Intraocular Pressure/physiology ; Male ; Middle Aged ; Nerve Fibers/pathology ; Optic Disk/pathology ; ROC Curve ; Retinal Ganglion Cells/pathology ; Retrospective Studies ; Tomography, Optical Coherence/methods ; Visual Fields/physiology
Language	English
Publishing date	2020-05-05
Publishing country	England
Document type	Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	80078-8
ISSN	1468-2079 ; 0007-1161
ISSN (online)	1468-2079
ISSN	0007-1161
DOI	10.1136/bjophthalmol-2020-315985
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Article ; Online: Ion transport function of SLC4A11 in corneal endothelium.

Jalimarada, Supriya S / Ogando, Diego G / Vithana, Eranga N / Bonanno, Joseph A

Investigative ophthalmology & visual science

2013 Volume 54, Issue 6, Page(s) 4330–4340

Abstract: Purpose: Mutations in SLC4A11, a member of the SLC4 superfamily of bicarbonate transporters, give rise to corneal endothelial cell dystrophies. SLC4A11 is a putative Na⁺ borate and Na⁺:OH⁻ transporter. Therefore we ask whether SLC4A11 in corneal ... ...

Abstract	Purpose: Mutations in SLC4A11, a member of the SLC4 superfamily of bicarbonate transporters, give rise to corneal endothelial cell dystrophies. SLC4A11 is a putative Na⁺ borate and Na⁺:OH⁻ transporter. Therefore we ask whether SLC4A11 in corneal endothelium transports borate (B[OH]₄⁻), bicarbonate (HCO3⁻), or hydroxyl (OH⁻) anions coupled to Na⁺. Methods: SLC4A11 expression in cultured primary bovine corneal endothelial cells (BCECs) was determined by semiquantitative PCR, SDS-PAGE/Western blotting, and immunofluorescence staining. Ion transport function was examined by measuring intracellular pH (pHi) or Na⁺ ([Na⁺](i)) in response to Ringer solutions with/without B(OH)₄⁻ or HCO₃⁻ after overexpressing or small interfering RNA (siRNA) silencing of SLC4A11. Results: SLC4A11 is localized to the basolateral membrane in BCEC. B(OH)₄⁻ (2.5-10 mM) in bicarbonate-free Ringer induced a rapid small acidification (0.01 pH unit) followed by alkalinization (0.05-0.1 pH unit), consistent with diffusion of boric acid into the cell followed by B(OH)₄⁻. However, the rate of B(OH)₄⁻-induced pHi change was unaffected by overexpression of SLC4A11. B(OH)₄⁻ did not induce significant changes in resting [Na⁺(i)] or the amplitude and rate of acidification caused by Na⁺ removal. siRNA-mediated knockdown of SLC4A11 (∼70%) did not alter pHi responses to CO₂/HCO₃⁻-rich Ringer, Na⁺-free induced acidification, or the rate of Na⁺ influx in the presence of bicarbonate. However, in the absence of bicarbonate, siSLC4A11 knockdown significantly decreased the rate (43%) and amplitude (48%) of acidification due to Na⁺ removal and recovery (53%) upon add-back. Additionally, the rate of acid recovery following NH₄⁺ prepulse was decreased significantly (27%) by SLC4A11 silencing. Conclusions: In corneal endothelium, SLC4A11 displays robust Na⁺-coupled OH⁻ transport, but does not transport B(OH)₄⁻ or HCO₃⁻.
MeSH term(s)	Animals ; Anion Transport Proteins/physiology ; Antiporters/physiology ; Basement Membrane/metabolism ; Bicarbonates/metabolism ; Biological Transport ; Blotting, Western ; Borates/metabolism ; Cattle ; Cells, Cultured ; Electrophoresis, Polyacrylamide Gel ; Endothelium, Corneal/cytology ; Endothelium, Corneal/metabolism ; Fluorescent Antibody Technique, Indirect ; Gene Expression ; Gene Silencing/physiology ; Genetic Vectors ; Hydrogen-Ion Concentration ; Hydroxides/metabolism ; Ion Transport ; RNA, Messenger/metabolism ; RNA, Small Interfering/genetics ; Real-Time Polymerase Chain Reaction ; Sodium/metabolism ; Transfection
Chemical Substances	Anion Transport Proteins ; Antiporters ; Bicarbonates ; Borates ; Hydroxides ; RNA, Messenger ; RNA, Small Interfering ; SLC4A11 protein, human ; hydroxide ion (9159UV381P) ; Sodium (9NEZ333N27)
Language	English
Publishing date	2013-06-21
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	391794-0
ISSN	1552-5783 ; 0146-0404
ISSN (online)	1552-5783
ISSN	0146-0404
DOI	10.1167/iovs.13-11929
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Article ; Online: Integration of Genetic and Biometric Risk Factors for Detection of Primary Angle Closure Glaucoma.

Nongpiur, Monisha E / Khor, Chiea-Chuen / Cheng, Ching-Yu / Husain, Rahat / Boey, Pui Yi / Chew, Annabel / Ho, Ching Lin / Wong, Tina T / Perera, Shamira / Wong, Tien Yin / Vithana, Eranga N / Aung, Tin

American journal of ophthalmology

2019 Volume 208, Page(s) 160–165

Abstract: Purpose: The purpose of this study was to investigate whether the addition of primary angle closure glaucoma (PACG)-associated genetic loci allows improved detection of PACG, compared to anterior segment parameters measured by imaging.: Design: Case- ... ...

Abstract	Purpose: The purpose of this study was to investigate whether the addition of primary angle closure glaucoma (PACG)-associated genetic loci allows improved detection of PACG, compared to anterior segment parameters measured by imaging. Design: Case-control study. Methods: Genotype data of the 8 PACG single-nucleotide polymorphisms (SNPs) (rs11024102 at PLEKHA7, rs3753841 at COL11A1, rs1015213 located between PCMTD1 and ST18 on Chromosome 8q, rs3816415 at EPDR1, rs1258267 at CHAT, rs736893 at GLIS3, rs7494379 at FERMT2, and rs3739821 mapping in between DPM2 and FAM102A) were available. Customized software was used to measure anterior segment optical coherence tomography (ASOCT) parameters, namely, anterior chamber depth, width, and area (ACD, ACW, and ACA) and lens vault (LV). Statistical analysis for positive predictive values was modeled using the receiver operating characteristic curve (AUC). Statistical significance comparing predictive power of the different parameters was calculated using permutation. Results: A total of 388 PACG subjects and 751 controls with both ASOCT and genetic data were available for analysis. Anterior segment parameters including ACD, ACA, and LV had excellent predictive value (AUCs >0.94), except ACW (AUC=0.65), for identifying PACG. The inclusion of genetic risk alleles (either singly or as a composite genetic risk score for 8 genomewide association study SNPs) to ACD only provided a +0.50% improvement in reclassifying PACG cases and controls over and above the discriminatory value of ACD. This +0.50% improvement was not statistically significant (P > .05). Conclusions: Although significant on their own, the incorporation of genetic data in the context of anterior segment imaging parameters like ACD provided only a marginal improvement of PACG detection.
MeSH term(s)	Aged ; Anterior Eye Segment/diagnostic imaging ; Area Under Curve ; Asian Continental Ancestry Group/genetics ; Biometry ; Case-Control Studies ; Eye Proteins/genetics ; Female ; Genetic Association Studies ; Genotyping Techniques ; Glaucoma, Angle-Closure/diagnosis ; Glaucoma, Angle-Closure/genetics ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; ROC Curve ; Risk Factors ; Tomography, Optical Coherence
Chemical Substances	Eye Proteins
Language	English
Publishing date	2019-08-01
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80030-2
ISSN	1879-1891 ; 0002-9394
ISSN (online)	1879-1891
ISSN	0002-9394
DOI	10.1016/j.ajo.2019.07.022
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Article ; Online: Differential expression of the Slc4 bicarbonate transporter family in murine corneal endothelium and cell culture.

Shei, William / Liu, Jun / Htoon, Hla M / Aung, Tin / Vithana, Eranga N

Molecular vision

2013 Volume 19, Page(s) 1096–1106

Abstract: Purpose: To characterize the relative expression levels of all the solute carrier 4 (Slc4) transporter family members (Slc4a1-Slc4a11) in murine corneal endothelium using real-time quantitative (qPCR), to identify further important members besides ... ...

Abstract	Purpose: To characterize the relative expression levels of all the solute carrier 4 (Slc4) transporter family members (Slc4a1-Slc4a11) in murine corneal endothelium using real-time quantitative (qPCR), to identify further important members besides Slc4a11 and Slc4a4, and to explore how close to the baseline levels the gene expressions remain after cells have been subjected to expansion and culture. Methods: Descemet's membrane-endothelial layers of 8-10-week-old C57BL6 mice were stripped from corneas and used for both primary cell culture and direct RNA extraction. Total RNA (from uncultured cells as well as cultured cells at passages 2 and 7) was reverse transcribed, and the cDNA was used for real time qPCR using specific primers for all the Slc4 family members. The geNorm method was applied to determine the most stable housekeeping genes and normalization factor, which was calculated from multiple housekeeping genes for more accurate and robust quantification. Results: qPCR analyses revealed that all Slc4 bicarbonate transporter family members were expressed in mouse corneal endothelium. Slc4a11 showed the highest expression, which was approximately three times higher than that of Slc4a4 (3.4±0.3; p=0.004). All Slc4 genes were also expressed in cultured cells, and interestingly, the expression of Slc4a11 in cultured cells was significantly reduced by approximately 20-fold (0.05±0.001; p=0.000001) in early passage and by approximately sevenfold (0.14±0.002; p=0.000002) in late passage cells. Conclusions: Given the known involvement of SLC4A4 and SLC4A11 in corneal dystrophies, we speculate that the other two highly expressed genes in the uncultured corneal endothelium, SLC4A2 and SLC4A7, are worthy of being considered as potential candidate genes for corneal endothelial diseases. Moreover, as cell culture can affect expression levels of Slc4 genes, caution and careful design of experiments are necessary when undertaking studies of Slc4-mediated ion transport in cultured cells.
MeSH term(s)	Animals ; Anion Transport Proteins/genetics ; Anion Transport Proteins/metabolism ; Biomarkers/metabolism ; Cell Culture Techniques ; Cell Shape ; Cells, Cultured ; DNA Primers/metabolism ; Descemet Membrane/metabolism ; Endothelial Cells/cytology ; Endothelial Cells/metabolism ; Endothelium, Corneal/cytology ; Gene Expression Profiling ; Gene Expression Regulation ; Mice ; Mice, Inbred C57BL ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Reference Standards ; Reverse Transcriptase Polymerase Chain Reaction ; Software
Chemical Substances	Anion Transport Proteins ; Biomarkers ; DNA Primers ; RNA, Messenger
Language	English
Publishing date	2013-05-24
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2017540-1
ISSN	1090-0535 ; 1090-0535
ISSN (online)	1090-0535
ISSN	1090-0535
Database	MEDical Literature Analysis and Retrieval System OnLINE

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