International journal of ophthalmology最新文献

Aim: To investigate the genetic basis of Weill-Marchesani syndrome (WMS) in a Chinese family and clarify the pathogenic mechanism of novel ADAMTS17 mutations.

Methods: Comprehensive clinical assessments and genetic analyses were performed on a Chinese family with two affected siblings. Whole-exome sequencing (WES) was conducted for the proband and other family members. Bioinformatics tools were used to evaluate the conservation, predicted pathogenicity, and structural effects of the identified ADAMTS17 variants. In addition, protein structure modeling was applied to assess the functional impacts of the mutations.

Results: The proband (a 32-year-old male) and his elder sister (42y) presented typical clinical features of WMS, including short stature, brachydactyly, high myopia, ectopia lentis, and secondary glaucoma. WES identified a novel compound heterozygous mutation in ADAMTS17: a splicing mutation (c.451-2A>G) inherited from the father and a missense mutation (c.1043G>A; p.C348Y) inherited from the mother. The splicing mutation disrupted normal mRNA splicing and processing, leading to premature translation termination. The missense mutation, which is located in the metalloprotease catalytic domain, was predicted to abolish a critical disulfide bond, thereby impairing protein stability. Both mutations exhibited high evolutionary conservation and were predicted to be pathogenic by multiple bioinformatics algorithms.

Conclusion: A novel compound heterozygous mutation in ADAMTS17 is identified in this WMS-affected Chinese family, and its pathogenicity is verified via bioinformatics analysis and protein structural modeling. These findings are expected to facilitate the genetic diagnosis of WMS and deepen the understanding of its molecular pathogenesis.

Aim: To evaluate and compare alterations in the effective lens position (ELP) and refractive outcomes among three distinct intraocular lens (IOL) types.

Methods: Patients with cataracts were enrolled and allocated to 3 groups: Group A (implanted with the SN6CWS), Group B (implanted with the MI60), and Group C (implanted with the Aspira-aA). ELP measurements were obtained with swept-source optical coherence tomography (SS-OCT) at 1d, 1wk, 1mo, and 3mo postoperatively. Subjective refraction assessments were conducted at 1wk, 1mo, and 3mo following surgery.

Results: The study included 189 eyes of 150 cataract patients (66 males). There were 77 eyes in Group A, 55 eyes in Group B, and 57 eyes in Group C. The root mean square of the ELP (ELP_RMS) within the initial 3mo was significantly lower for Group A than for Groups B and C. Refractive changes within Group A were not significant across the time points of 1wk, 1mo, and 3mo. Conversely, both Group B and Group C demonstrated statistically significant shifts toward hyperopia from 1wk to 3mo postsurgery.

Conclusion: Among the three IOLs examined, the SN6CWS IOL showes the greatest stability during the first 3mo postoperatively. Between 1wk and 3mo after surgery, notable hyperopic shifts are evident in eyes implanted with the MI60 and Aspira-aA IOLs, whereas refractive outcomes remain relatively constant in eyes implanted with SN6CWS IOLs.

Aim: To evaluate the clinical characteristics and risk factors associated with visual prognosis in patients with open globe injuries (OGIs) treated at Vietnam National Eye Hospital.

Methods: A prospective observational study included patients with OGIs treated between June 2023 and June 2024. Data on demographics, injury features, and clinical findings were extracted from medical records. Poor visual outcome was defined as final best-corrected visual acuity (BCVA) worse than 20/400 or no light perception. Multivariable logistic regression was performed to identify independent risk factors.

Results: Among 509 patients (636 eyes), the mean age was 35.13y (range 20-51y), and 67.6% were male. After treatment, the proportion of eyes achieving ≥20/40 increased from 12.6% to 42.1%, while no light perception decreased from 29.1% to 9.4%. Independent predictors of poor visual outcomes included delayed admission [>4h, odds ratio (OR)=3.33, 95% confidence intervals (CI): 1.76-6.33, P<0.001], Zone III injury (OR=5.90, 95%CI: 2.85-12.24, P<0.001), wound length >10 mm (OR=2.59, 95%CI: 1.60-4.18, P<0.001), relative afferent pupillary defect (RAPD, OR=1.65, 95%CI: 1.03-2.64, P=0.039), endophthalmitis (OR=1.75, 95%CI: 1.01-3.03, P=0.047), retinal detachment (OR=3.32, 95%CI: 2.02-5.45, P<0.001), and eyelid lacerations (OR=1.94, 95%CI: 1.13-3.33, P=0.016) associated with OGIs. Vitreous hemorrhage (OR=0.44, 95%CI: 0.22-0.89, P=0.023) was associated with better outcomes, and female gender appeared protective.

Conclusion: Poor visual outcomes remain common after OGIs, despite improve visual acuity in many cases. Several clinical and injury-related factors are strongly associated with prognosis. Early recognition of these predictors can support risk stratification and improve trauma care in similar settings.

Aim: To conduct a systematic review and Meta-analysis to determine the differential effects of combined lutein and zeaxanthin supplementation on myopia prevention in teenagers. It also investigates the effects of supplements dosage, intervention duration, and geographical variation on intervention results.

Methods: A systematic search and screening of randomized controlled trials (RCTs) completed between 2014 and 2023 was undertaken using the PubMed, EMBASE, Cochrane Library, and Web of Science databases, in accordance with the PRISMA recommendations. The Cochrane risk of bias method was used to assess the quality of the studies. A Meta-analysis was performed using Stata 17.0 to calculate standardized mean differences (SMDs) and 95% confidence intervals (CIs). Subgroup analyses were performed to look at the effects of different doses, intervention periods, and geographic areas. Additionally, publication bias was assessed using Egger's test.

Results: Ten studies including 1035 participants with myopia were analyzed. Supplementation with lutein and zeaxanthin resulted in a significant reduction in axial length elongation among adolescents in the intervention group (SMD=-0.40, P=0.001), an increase in macular pigment optical density (SMD=0.50, P=0.010), and an enhancement in visual sensitivity (SMD=0.53, P=0.008). Subgroup analyses revealed that participants receiving high doses and those undergoing intervention for more than 12mo exhibited significantly improved outcomes compared to those in the low-dose and short-term groups (high-dose vs low-dose: SMD=-0.41 vs -0.22, P=0.003; >12mo vs 6-12mo: SMD=-0.43 vs -0.23, P=0.004, respectively). Furthermore, Egger's test indicated no significant publication bias (P=0.094).

Conclusion: Combined lutein and zeaxanthin supplementation has a significant effect on myopia prevention in adolescents, with more pronounced benefits observed in high-dose and long-term interventions. The findings provide scientific evidence for its use as an adjunctive approach in myopia control.

Aim: To compare spontaneous brain regional activities between diabetic vitreous hemorrhage patients (DVHs) and healthy controls (HCs).

Methods: Thirty-two DVHs and 32 HCs were enrolled in this study. Baseline demographic and vision data were compared between groups using an independent sample t-test. Resting-state functional magnetic resonance imaging (rs-fMRI) was used in all participants. fMRI data was obtained and analyzed using MRIcro and SPM8 software. Fractional amplitude of low-frequency fluctuation (fALFF) technology was used to measure regional spontaneous brain activity, and sensitivity was tested using receiver operating characteristic curves (ROCs). The fALFF values were analyzed using REST software and two-sample t-tests were used to compare values between groups. Hospital anxiety and depression scale (HADS) score was assessed in DVHs and Pearson's correlation was used to test relationships between mean fALFF value and both HADS score and duration of DVH.

Results: Except for the best-corrected visual acuity (BCVA) in both eyes, which showed a statistically significant difference (P<0.05), there were no statistically significant differences in the other indicators (P>0.05) between the HCs and DVHs group. Compared with controls, fALFF value was higher in DVH in cerebellum posterior lobe (CPL) and lower in right anterior cingulate cortex (ACC) and right medial orbitofrontal cortex (OFC). In DVH patients, mean fALFF value of CPL was positively correlated with HADS score and duration of diabetes. However, no such correlation was found, for right ACC or right medial OFC. DVH may lead to abnormal activities in certain brain regions related to visual control and mood.

Conclusion: Visual impairment caused by DVH may lead to adjustment in regional visual brain activities and may be related to depression or reward system processing in some brain regions.

Aim: To build a functional generalized estimating equation (GEE) model to detect glaucomatous visual field progression and compare the performance of the proposed method with that of commonly employed algorithms.

Methods: Totally 716 eyes of 716 patients with primary open angle glaucoma (POAG) with at least 5 reliable 24-2 test results and 2y of follow-up were selected. The functional GEE model was used to detect perimetric progression in the training dataset (501 eyes). In the testing dataset (215 eyes), progression was evaluated the functional GEE model, mean deviation (MD) and visual field index (VFI) rates of change, Advanced Glaucoma Intervention Study (AGIS) and Collaborative Initial Glaucoma Treatment Study (CIGTS) scores, and pointwise linear regression (PLR).

Results: The proposed method showed the highest proportion of eyes detected as progression (54.4%), followed by the VFI rate (34.4%), PLR (23.3%), and MD rate (21.4%). The CIGTS and AGIS scores had a lower proportion of eyes detected as progression (7.9% and 5.1%, respectively). The time to detection of progression was significantly shorter for the proposed method than that of other algorithms (adjusted P≤0.019). The VFI rate displayed moderate pairwise agreement with the proposed method (k=0.47).

Conclusion: The functional GEE model shows the highest proportion of eyes detected as perimetric progression and the shortest time to detect perimetric progression in patients with POAG.

Aim: To investigate the effects of different light intensities and various mydriatic and miotic drugs on pupil accommodation in guinea pigs.

Methods: Forty-two-week-old guinea pigs were randomly divided into four groups to assess pupillary responses under varying light intensities (100, 250, 500 lx) and pharmacological interventions (1% atropine, 1% cyclopentolate, 1% tropicamide, or 2% pilocarpine). Baseline pupil size and eccentricity were recorded using a non-contact Python-based imaging system integrating edge detection and pixel-to-distance conversion. Direct illumination effects were measured at sequential time points, followed by drug administration and longitudinal tracking of pupillary changes. The protocol was repeated at 12wk of age for developmental comparisons. Post-experiment, enucleated eyes were analyzed to evaluate in vitro vs in vivo differences.

Results: Significant age-dependent differences in pupil dynamics were observed. Both 2- and 12-week-old guinea pigs exhibited marked pupil constriction under direct illumination (P<0.001), with decreased eccentricity post-constriction (P<0.001). Indirect illumination caused inconsistent pupil size changes (2-week: P=0.68; 12-week: P=0.49). Pharmacologically, atropine, cyclopentolate, and tropicamide induced pupil dilation (P<0.001), whereas pilocarpine caused constriction (P<0.001). All drug groups showed reduced eccentricity (P<0.001). In vivo/in vitro comparisons revealed significant structural differences.

Conclusion: This study investigates pupillary responses in developing guinea pigs, revealing a direct pupillary light reflex (PLR) with light intensity-dependent responses, while indirect PLR was undetectable. The differential effects of muscarinic modulators on pupillary responses underscore the critical role of cholinergic signaling in ocular accommodation, with age-related variations in sensitivity. Additionally, a novel non-contact measurement methodology achieved a precision of 0.01 mm for pupillary quantification, enhancing accuracy in ocular studies.

Aim: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

Aim: To evaluate the clinical features, diagnosis, treatment, and outcome of peripheral exudative hemorrhagic chorioretinopathy (PEHCR), a variant of polypoidal choroidal vasculopathy (PCV), in a case series of Chinese patients.

Methods: This study was retrospectively conducted from September 2018 to March 2025. Clinical examinations included color fundus photography, B-scan ultrasonography, fluorescein angiography (FA), indocyanine green angiography (ICGA), swept-source optical coherence tomography (SS-OCT), and optical coherence tomography angiography (OCTA), and two active or inactive subgroups and misdiagnosed cases were analyzed.

Results: Totally 19 patients (21 eyes) with a mean age of 54.3±9.4 (range, 36-68)y were included, with a majority of women (n=13, 68.4%). The mean follow-up period was 13±1.4 (range: 1-57)mo. Decreased visual acuity was the most frequent initial manifestation (17 eyes, 84.2%), and lesions were mainly distributed in the inferotemporal or temporal quadrant (14 eyes, 66.7%), with choroidal polyps and branching neovascular networks revealed by OCTA and ICGA. Nine patients had been previously misdiagnosed with choroidal melanoma, and 6 of them had massive vitreous hemorrhage (VH). PEHCR manifested along a spectrum ranging from active or inactive subretinal hemorrhagic forms to chronic fibrotic or atrophic forms. One patient experienced natural regression. Ten eyes received a mean of 4.7±1.1 (range: 3-7) intravitreal anti-vascular endothelial growth factor (VEGF) injections, two eyes underwent vitrectomy, and six eyes were treated with vitrectomy combined with anti-VEGF therapy. Best-corrected visual acuity (logMAR) in treated eyes (18 eyes) improved to 0.31±0.25 from the baseline of 1.50 ± 0.75 (P<0.001).

Conclusion: PEHCR is a variant of PCV. Chinese patients with PEHCR have a relatively younger age of onset. Anti-VEGF injections and/or vitrectomy are treatment options for lesion regression or dense VH to gain better visual outcomes.

Aim: To compare the visual outcomes between bilateral implantation of Tecnis ZXR00 extended depth-of-focus (EDOF) intraocular lenses (IOLs) and mixed implantation of Tecnis ZXR00 (EDOF) with Tecnis ZMB00 (bifocal) IOLs.

Methods: This postoperative cross-sectional study enrolled patients who underwent phacoemulsification combined with IOL implantation. Patients were divided into two groups: the bilateral ZXR00 group (ZXR00-only group) and the mixed IOL group (ZXR00+ZMB00 group). Primary outcome measures included uncorrected and corrected distance visual acuity (UDVA, CDVA), uncorrected and distance-corrected near visual acuity (UNVA, DCNVA), uncorrected and distance-corrected intermediate visual acuity (UIVA, DCIVA), and defocus curves. Secondary outcome measures were visual quality, spectacle independence, patient satisfaction, photic phenomena, and stereopsis.

Results: A total of 47 patients (94 eyes) were included, with 26 patients (11 males, 15 females) in the ZXR00-only group (mean age: 62.73±7.24y) and 21 patients (7 males, 14 females) in the mixed group (mean age: 65.71±9.16y). There was no statistically significant difference in age between the two groups (P=0.218). The mixed group showed significantly better binocular DCNVA compared to the ZXR00-only group (P=0.002). Defocus curve analysis revealed that the mixed group exhibited superior performance at -2.5 to -4.0 D but inferior performance at -0.5 and -1.5 D. Near stereoacuity was significantly poorer in the mixed group (Randot: 5.589±0.744 vs 6.240±0.394 ln arcsec; Contour: 4.966±0.973 vs 5.740±0.833 ln arcsec; both P<0.01). Both groups achieved high levels of spectacle independence and patient satisfaction, with no significant differences in photic phenomena or questionnaire scores.

Conclusion: Mixed implantation of EDOF and bifocal IOLs improve near visual acuity but may compromise near stereopsis. This approach provides a viable option for patients prioritizing near vision; however, caution is recommended for individuals requiring fine stereoscopic vision for daily or professional tasks.