Use of artificial intelligence in forecasting glaucoma progression

Artificial intelligence (AI) has been widely used in ophthalmology for disease detection and monitoring progression. For glaucoma research, AI has been used to understand progression patterns and forecast disease trajectory based on analysis of clinical and imaging data. Techniques such as machine learning, natural language processing, and deep learning have been employed for this purpose. The results from studies using AI for forecasting glaucoma progression however vary considerably due to dataset constraints, lack of a standard progression definition and differences in methodology and approach. While glaucoma detection and screening have been the focus of most research that has been published in the last few years, in this narrative review we focus on studies that specifically address glaucoma progression. We also summarize the current evidence, highlight studies that have translational potential, and provide suggestions on how future research that addresses glaucoma progression can be improved

Mendelian Randomization Implicates Bidirectional Association between Myopia and Primary Open-Angle Glaucoma or Intraocular Pressure

10.1016/j.ophtha.2022.11.030OPHTHALMOLOGY1304394-403Complete

Referenced scans improve the repeatability of optical coherence tomography angiography measurements in normal and glaucoma eyes

AimTo compare the repeatability of peripapillary perfusion density and flux index measurements on referenced and non-referenced optical microangiography (OMAG) scans in normal, glaucoma suspect and glaucoma eyes.MethodsIn a cross-sectional study, 48 eyes (33 subjects) underwent three repeat, non-referenced peripapillary OMAG scans in the same session and 43 eyes (25 subjects) underwent three referenced peripapillary OMAG scans. In the referenced scan group, repeat scans (second and the third scan) were acquired exactly on the baseline (first) scan using the 'track to prior scan' option on the device. Repeatability estimates of the mean and four-sector (temporal, superior, nasal and inferior) OMAG measurements on the non-referenced and referenced scans were assessed using within-subject coefficient of repeatability (CRw) and variation (CVw).ResultsCRw (%) of peripapillary perfusion density measurements (range: 2.0-4.1) on non-referenced scans were significantly higher than that on referenced scans (range: 1.4-2.7). CVw (%) on non-referenced and referenced scans ranged from 1.7 to 3.1 and from 1.2 to 2.1, respectively . CRw of flux index on non-referenced and referenced scans ranged from 4.4 to 5.8 and from 3.6 to 4.8, respectively. CVw on non-referenced and referenced scans ranged from 4.1 to 5.2 and from 3.3 to 4.5, respectively.ConclusionsRepeatability estimates of OMAG measurements were better on referenced scans compared with non-referenced scans. Perfusion density measurements had lower variability than flux index. OCTA-measured perfusion density of referenced scans is preferable for monitoring vascular change in glaucoma

Comparison of anterior chamber depth measurements using the IOLMaster, scanning peripheral anterior chamber depth analyser, and anterior segment optical coherence tomography

10.1136/bjo.2006.113761British Journal of Ophthalmology9181023-102

Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations.

Central corneal thickness (CCT) is a highly heritable trait. Genes that significantly influence CCT can be candidate genes for common disorders in which CCT has been implicated, such as primary open-angle glaucoma (POAG) and keratoconus. Because the genetic factors controlling CCT in different Asian populations are unclear, we have built on previous work conducted on Singaporean Indians and Malays and extended our hypothesis to individuals of Chinese descent. We have followed up on all suggestive signals of association with CCT (P < 10(-4)) from the previously reported meta-analysis comprising Indians and Malays in a sample of Chinese individuals (n= 2681). In the combined sample (n= 7711), strong evidence of association was observed at four novel loci: IBTK on chromosome 6q14.1; CHSY1 on chromosome 15q26.3; and intergenic regions on chromosomes 7q11.2 and 9p23 (8.01 × 10(-11) < λ(GC) corrected P(meta) < 8.72 × 10(-8)). These four new loci explain an additional 4.3% of the total CCT variance across the sample cohorts over and above that of previously identified loci. We also extend on a previous finding at a fifth locus (AKAP13) where a new single-nucleotide polymorphism (rs1821481, P(meta) = 9.99 × 10(-9)) was found to be significantly more informative compared with the previously reported rs6496932 (P(meta) = 3.64 × 10(-5)). Performing association analysis in Asians may lead to the discovery of ethnic-specific genes that control CCT, offering further mechanistic insights into the regulation of CCT. In addition, it may also provide several candidate genes for interrogation for POAG, keratoconus and possible racial/ethnic variations

Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic discarea

Damage to the optic nerve (e.g. from glaucoma) has an adverse and often irreversible impact on vision. Earlier studies have suggested that the size of the optic nerve head could be governed by hereditary factors. We conducted a genome-wide association study (GWAS) on 4445 Singaporean individuals (n 5 2132 of Indian and n 5 2313 of Malay ancestry, respectively), with replication in Rotterdam, the Netherlands (n 5 9326 individuals of Caucasian ancestry) using the most widely reported parameter for optic disc traits, the optic disc area. We identified a novel locus on chromosome 22q13.1, CARD10, which strongly associates with optic disc area in both Singaporean cohorts as well as in the Rotterdam Study (RS; rs9607469, perallele change in optic disc area 5 0.051 mm2; Pmeta5 2.73310-12) and confirmed the association between CDC7/TGFBR3 (lead single nucleotide polymorphism (SNP) rs1192415, Pmeta5 7.57310-17) and ATOH7 (lead SNP rs7916697, Pmeta5 2.00 3 10-15) and optic disc area in Asians. This is the first Asian-based GWAS on optic disc area, identifying a novel locus for the optic disc area, but also confirming the results found in Caucasian persons suggesting that there are general genetic determinants applicable to the size of the optic disc across different ethnicities

Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections. We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR)=1.22; P=5.33×10(-12)), rs3753841 in COL11A1 (per-allele OR=1.20; P=9.22×10(-10)) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR=1.50; P=3.29×10(-9)). Our findings, accumulated across these independent worldwide collections, suggest possible mechanisms explaining the pathogenesis of PACG

ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma.

Anterior chamber depth (ACD) is a key anatomical risk factor for primary angle closure glaucoma (PACG). We conducted a genome-wide association study (GWAS) on ACD to discover novel genes for PACG on a total of 5,308 population-based individuals of Asian descent. Genome-wide significant association was observed at a sequence variant within ABCC5 (rs1401999; per-allele effect size = -0.045 mm, P = 8.17×10-9). This locus was associated with an increase in risk of PACG in a separate case-control study of 4,276 PACG cases and 18,801 controls (per-allele OR = 1.13 [95% CI: 1.06-1.22], P = 0.00046). The association was strengthened when a sub-group of controls with open angles were included in the analysis (per-allele OR = 1.30, P = 7.45×10-9; 3,458 cases vs. 3,831 controls). Our findings suggest that the increase in PACG risk could in part be mediated by genetic sequence variants influencing anterior chamber dimensions. PLoS Genet 2014 Mar 6; 10(3):e1004089

Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma

10.1038/ng.2390Nature Genetics44101142-1146NGEN