To study the relationships between amplitude of low-frequency fluctuations (ALFF) changes and clinical ophthalmic parameters in patients with primary open angle glaucoma (POAG) and analyze the diagnostic value of ALFF.

Twenty-four POAG patients and 24 healthy controls (HCs) underwent resting-state functional magnetic resonance imaging (rs-fMRI). Nonparametric rank-sum tests were used to compare the ALFF values in the slow-4 and slow-5 bands, and Spearman or Pearson correlation analysis was used to assess the correlation between ALFF changes and clinical ophthalmic parameters in POAG patients. Receiver operating characteristic (ROC) curves were used to evaluate the diagnostic performance of the ALFF.

There were 16 males in POAG patients (median age 48y) and 12 males in HCs (median age 39y). Compared with HCs, POAG patients presented increased or decreased ALFF values in different brain regions, and similar changes were observed in mild POAG patients. The ALFF values were correlated with retinal nerve fiber layer (RNFL) thickness, inner limiting membrane-retinal pigment epithelium thickness changes and the degree of visual field defects. Analysis of the diagnostic value of the ALFF via ROC curves revealed that the right medial frontal gyrus [area under the curve (AUC)=0.9063] and superior frontal gyrus (AUC=0.9097) had better diagnostic value than did the optic disc area (AUC=0.8019), visual field index (VFI%, AUC=0.8988) and macular parameters.

POAG patients present altered cortical function that is significantly correlated with the optic nerve and retinal thickness and had good diagnostic value, which may reflect the underlying neuropathological mechanism of POAG.

To evaluate the lateral geniculate nucleus (LGN) volume and height using magnetic resonance imaging (MRI) in glaucoma patients.

Literatures retrieval was carried out through PubMed, Web of Science, Embase, and Cochrane Library. Studies that compared the volume and height of LGN in glaucoma patients with that in control subjects were included. The volume and height of LGN were extracted from the included studies. The Review Manager 5.4.1 software was used for the Meta-analysis.

This Meta-analysis included 10 cross-sectional studies, including the eyes of 223 glaucoma patients and 185 healthy controls. Compared with the control subjects, the volume and height of LGN in glaucoma patients measured by MRI were significantly reduced {-29.13 mm³, 95% [confidence interval (CI): -44.82 to -13.43, P=0.0003; -0.61 mm, 95%CI: -0.78 to -0.44, P<0.00001, respectively]}. Subgroup analysis demonstrated that the differences of LGN volume and height between glaucoma patients and control subjects in the older group were smaller than that in the younger group, and LGN volume decreased with the increase of glaucoma severity.

The results demonstrate that the volume and height of LGN are decreased in glaucoma patients, and LGN volume can be considered a parameter of glaucoma severity.

To characterize the ophthalmic clinical phenotype of a family with retinitis pigmentosa (RP) and closed-angle glaucoma and to detect pathogenic genes and mutation sites causing RP in this family.

Ophthalmic clinic performance was examined in detail in 8 enrolled family members. Genomic DNA was extracted from the peripheral blood of 4 family members for whole-exome sequencing (WES) to select potential genetic mutations whose structures were identified by bioinformatics analysis. Then, Sanger sequencing was used in 12 family members and control group members to validate and confirm the disease-causing mutation loci, and we analyzed the genotype-phenotype relationships.

The known c.512C>T (p.P171L) mutation in the rhodopsin (RHO) gene was only found in afflicted family members and was confirmed by WES and Sanger sequencing as the pathogenic mutation in this family. In addition to being diagnosed with RP, family member Ⅲ:4 was found to have bilateral closed-angle glaucoma, high myopia, and concurrent cataracts, and family members Ⅱ:2 and Ⅱ:4 had pathological changes of anterior chamber angle narrowing. Family members Ⅳ:3 and Ⅳ:4 were found to have retinoschisis.

Glaucoma and related pathological changes, such as retinoschisis, in family members are preliminarily considered RP complications caused by RHO mutation.

To assess the performance of macular ganglion cell-inner plexiform layer thickness (mGCIPLT) and 10-2 visual field (VF) parameters in detecting early glaucoma and evaluating the severity of advanced glaucoma.

Totally 127 eyes from 89 participants (36 eyes of 19 healthy participants, 45 eyes of 31 early glaucoma patients and 46 eyes of 39 advanced glaucoma patients) were included. The relationships between the optical coherence tomography (OCT)-derived parameters and VF sensitivity were determined. Patients with early glaucoma were divided into eyes with or without central 10° of the VF damages (CVFDs), and the diagnostic performances of OCT-derived parameters were assessed.

In early glaucoma, the mGCIPLT was significantly correlated with 10-2 VF pattern standard deviation (PSD; with average mGCIPLT: β=-0.046, 95%CI, -0.067 to -0.024, P<0.001). In advanced glaucoma, the mGCIPLT was related to the 24-2 VF mean deviation (MD; with average mGCIPLT: β=0.397, 95%CI, 0.199 to 0.595, P<0.001), 10-2 VF MD (with average mGCIPLT: β=0.762, 95%CI, 0.485 to 1.038, P<0.001) and 24-2 VF PSD (with average mGCIPLT: β=0.244, 95%CI, 0.124 to 0.364, P<0.001). Except for the minimum and superotemporal mGCIPLT, the decrease of mGCIPLT in early glaucomatous eyes with CVFDs was more severe than that of early glaucomatous eyes without CVFDs. The area under the curve (AUC) of the average mGCIPLT (AUC=0.949, 95%CI, 0.868 to 0.982) was greater than that of the average circumpapillary retinal nerve fiber layer thickness (cpRNFLT; AUC=0.827, 95%CI, 0.674 to 0.918) and rim area (AUC=0.799, 95%CI, 0.610 to 0.907) in early glaucomatous eyes with CVFDs versus normal eyes.

The 10-2 VF and mGCIPLT parameters are complementary to 24-2 VF, cpRNFLT and ONH parameters, especially in detecting early glaucoma with CVFDs and evaluating the severity of advanced glaucoma in group level.