Concept Library

Within sickle cell disease (SCD) patients, HbSC genotype exhibited greater optic nerve thinning than HbSS genotype, specifically in temporal and superonasal BMO-MRW sectors and RNFL average, inferotemporal, and superotemporal sectors.

The mean squared error (MSE) for quantifying the number of relatives with glaucoma was 0.05 ± 0.56 for the large language model (LLM) and 0.85 ± 1.80 for the EHR family history field (P < 0.001).

A large language model (LLM) achieved an accuracy of 0.98 (sensitivity, 0.99; specificity, 0.99) with a Jaccard index of 0.99 for identifying family history of glaucoma (FHoG) in clinical notes.

Bidirectional two-sample Mendelian randomization (MR) analyses found no evidence of a causal relationship between serum Klotho and glaucoma in either direction.

PTGDS showed significant overexpression in the trabecular meshwork (TM) of an ocular hypertension (OHT) mouse model.

PTGDS was identified as the hub gene among 15 circadian rhythm-related differentially expressed genes (CRRDEGs) in human trabecular meshwork (TM) transcriptome data.

AFAP1 and FMNL2 were identified as key susceptibility genes for primary open-angle glaucoma (POAG), highlighting FMNL2's regulatory role in aqueous humor outflow pathways, in a comprehensive analysis of 192,702 subjects (15,229 cases and 177,473 controls).

The cross-tissue transcriptome-wide association study (TWAS) analysis identified 33 significant genes associated with primary open-angle glaucoma (POAG), whereas single-tissue validation revealed 18 significant genes in a study of 192,702 subjects (15,229 cases and 177,473 controls).

Colocalization analysis indicated strong colocalization of AFAP1 with primary open-angle glaucoma (POAG) in skeletal muscle and breast tissue, and significant colocalization of FMNL2 in the terminal ileum in a study of 192,702 subjects (15,229 cases and 177,473 controls).

AFAP1 showed a significant causal relationship with primary open-angle glaucoma (POAG) (P < 0.05), while FMNL2 did not (P > 0.05) in a study of 192,702 subjects (15,229 cases and 177,473 controls).

Individuals in the top 1% of the polygenic risk score (PRS) for trans-laminar cribrosa pressure difference (TLCPD) had a 4.48-fold higher risk of developing primary open-angle glaucoma (POAG) than those in the bottom 20% (95% confidence interval = 3.70-5.43) in an independent set of 268,734 unrelated European-ancestry individuals.

Functional enrichment and colocalization analyses in individuals of European ancestry identified candidate genes related to retinal cell death, including SDCCAG8, PILRB, FBXO46, NUPR1, and JUND, which were not previously associated with elevated intraocular pressure (IOP).

A genome-wide association study (GWAS) of trans-laminar cribrosa pressure difference (TLCPD) in 82,147 individuals of European ancestry identified 77 independent loci, including 12 previously unreported loci.

Knockdown of TXNDC5 significantly reduced TGFβ2-induced extracellular matrix (ECM) protein accumulation in trabecular meshwork (TM) tissues in mice.

TXNDC5 was degraded through the molecular chaperone-mediated autophagy (CMA) pathway.

In human trabecular meshwork (TM) cells, TXNDC5 contributed to the accumulation of extracellular matrix (ECM) by increasing the expression of TGFβ R2.

In a cohort of 21 patients with inherited retinal dystrophy and confirmed biallelic TTLL5 variants, 2 patients were diagnosed with cone dystrophy (CD), 12 with cone-rod dystrophy (CRD), and 7 with rod-cone dystrophy (RCD).

TTLL5-associated retinal dystrophy exhibits a broad clinical spectrum encompassing cone dystrophy (CD), cone-rod dystrophy (CRD), and rod-cone dystrophy (RCD), with a high prevalence of myopia as a shared feature in a retrospective observational study of 21 affected individuals from 19 unrelated families carrying biallelic TTLL5 variants.

Glaucoma diagnostic definitions in 83 randomized controlled trials were grouped into Mixed Criteria (37.3%), Combined Comprehensive (31.3%), IOP-Emphasized (27.7%), Visual Field-Emphasized (2.4%), and Imaging-Focused (1.2%).

Significant variability in glaucoma definitions was observed across 83 randomized controlled trials, encompassing 57 unique definitions.

Associations between glaucoma diagnosis and surgical failure following minimally invasive bleb surgery (MIBS) were conflicting with very low certainty of evidence; several studies described higher risk of failure for pseudoexfoliative/pigmentary, angle closure, uveitic, and normal tension subtypes of glaucoma.

The most frequent presenting symptom (78%) for post-vaccination optic neuritis (ON) following SARS-CoV-2 vaccination was pain which worsened on eye movements.

Five deregulated microRNAs (miRNAs) were identified in the retina of 5xFAD mice, four of which were validated, with two of these miRNAs related to Alzheimer's disease and involved in gene expression relevant to retinal function.

In the retinal ganglion cell (RGC) layer of 5xFAD mice, the accumulation of amyloid beta was concomitant with RGC apoptosis, and tau protein phosphorylation was increased.

Elevated levels of atherogenic index of plasma (AIP) and triglyceride glucose (TyG) in patients with nonarteritic anterior ischemic optic neuropathy (NAION) suggest that AIP and TyG may serve as systemic metabolic risk markers significantly associated with NAION.

The areas under the receiver operating characteristic (ROC) curves for atherogenic index of plasma (AIP) and triglyceride glucose (TyG) were 0.725 and 0.758, respectively, in distinguishing 44 patients with nonarteritic anterior ischemic optic neuropathy (NAION) from 42 control participants.

The levels of atherogenic index of plasma (AIP) and triglyceride glucose (TyG) were significantly elevated in 44 patients with nonarteritic anterior ischemic optic neuropathy (NAION) compared to 42 control participants.

Integrated methylome-transcriptome analysis identified COL5A1, COL5A2, JAM3, and HTRA1 as high-priority genes among hypomethylated-upregulated candidates in the trabecular meshwork of primary open-angle glaucoma (POAG) patients, implicating them in pathogenic extracellular matrix (ECM) remodeling.

In primary open-angle glaucoma (POAG), hypermethylated genes in trabecular meshwork (TM) samples were enriched in androgen receptor signaling, the NABA core matrisome, and actin filament processes, collectively highlighting extracellular matrix (ECM) dysregulation as a central theme.

In primary open-angle glaucoma (POAG), hypomethylated genes in trabecular meshwork (TM) samples were associated with ossification, collagen fibril organization, and the RhoA/ROCK signaling pathway.

Reduced-representation bisulfite sequencing (RRBS) on trabecular meshwork (TM) samples from 42 primary open-angle glaucoma (POAG) patients and 20 non-glaucomatous controls identified 8885 significant differentially methylated CpG sites (DMCs) and 3148 differentially methylated regions (DMRs) in POAG, revealing a pronounced hypomethylation pattern.

N4BP1 modulates cell pyroptosis and the progression of acute glaucoma through the JAK2/STAT3 signaling pathway.

The JAK2/STAT3 pathway is a critical factor in N4BP1-mediated regulation of microglial activity and pyroptosis levels in vitro.

Pyroptosis and the JAK2/STAT3 pathway were identified as potential downstream targets of N4BP1 through transcriptome sequencing.

Optical coherence tomography in 21 patients with molecularly confirmed USH1C-associated retinopathy revealed cystoid macular edema in 5 patients (23.8%) at baseline, persisting in 2 patients at follow-up.

In a retrospective case series of patients with molecularly confirmed USH1C-associated retinopathy, depression was reported by 5 of 13 patients (38.5%) and unemployment by 7 of 23 patients (30.4%).

In 24 patients with molecularly confirmed USH1C-associated retinopathy, 4 patients (16.7%) met World Health Organization criteria for severe sight impairment (20/200 or worse in the better-seeing eye).

Among 15 patients with molecularly confirmed USH1C-associated retinopathy with follow-up of 5 years or more, baseline BCVA was 0.30 logMAR (20/40) in the better-seeing eye, declining to 0.59 logMAR (20/80).

In 28 patients with molecularly confirmed USH1C-associated retinopathy, presenting symptoms included nyctalopia (24 of 26 patients [92.3%]) and peripheral vision difficulties (23 of 28 patients [82.1%]).

In a retrospective case series of 28 patients with molecularly confirmed USH1C-associated retinopathy, two novel pathogenic USH1C variants were identified.

Homozygous carriers of the c.265delC hotspot variant in CNGA1-associated retinitis pigmentosa (CNGA1-RP) exhibited more severe phenotypes in a large Chinese cohort.

Genetic analysis in a large Chinese cohort of 58 patients with CNGA1-associated retinitis pigmentosa (CNGA1-RP) identified 14 novel pathogenic variants in CNGA1, and c.265delC was confirmed as a hotspot variant with an allele frequency of 72% in the Chinese population.

Patients with biallelic loss-of-function variants in the CRB1 gene were significantly more prevalent in the pan-retinopathy group (40.3%) than in the maculopathy group (7.1%) (P = 0.03) in a cohort of 75 patients with CRB1-related retinal dystrophy.

Key optical coherence tomography (OCT) features for differentiating inherited retinal diseases (IRDs) included reduced perifoveal photoreceptor and outer nuclear layer thicknesses and increased retinal nerve fiber layer thickness in retinal IRD, and significant foveal photoreceptor and outer nuclear layer thinning in macular IRD, as identified by an AI-driven classification model in a study of 327 images from 181 patients with IRD.