Liu Y, Yang J, Zhang RX
… +6 more, Lu Y, Sang W, Xi JW, Jia J, Guo DP, He Y
Int J Ophthalmol
· 2026 · PMID 41524003
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AIM: To investigate the etiology and clinical characteristics of hospitalized secondary glaucoma (SG) patients in northwestern China. METHODS: A cross-sectional study was conducted involving SG patients hospitalized betw...AIM: To investigate the etiology and clinical characteristics of hospitalized secondary glaucoma (SG) patients in northwestern China. METHODS: A cross-sectional study was conducted involving SG patients hospitalized between July 2024 and January 2025. Clinical data were collected, including medical history, best-corrected visual acuity (BCVA), intraocular pressure (IOP), slit-lamp examination, gonioscopic findings, and fundus examination. Demographic characteristics, etiological factors, and treatment modalities were analyzed. RESULTS: A total of 67 patients (82 eyes) were enrolled, aged 7 to 90y. Males accounted for 54.0% (36/67), and 22.4% (15/67) of patients had bilateral involvement. The predominant etiologies of SG were neovascular glaucoma (NVG; 25.4%), traumatic glaucoma (23.9%), uveitic glaucoma (20.9%), and lens-induced glaucoma (14.9%), collectively accounting for 85.1% of all cases. The peak age-specific incidence occurred in the 50-59 years age group (32.8%, 22/67), while NVG was prevalent across the 40-79 years age range. IOP of the 82 affected eyes was stratified into five severity tiers: 22-29 mm Hg (15 eyes, 18.3%), 30-39 mm Hg (14 eyes, 17.1%), 40-49 mm Hg (13 eyes, 15.9%), 50-59 mm Hg (20 eyes, 24.4%), and ≥60 mm Hg (20 eyes, 24.4%). The overall mean IOP was 45.2±12.3 mm Hg, indicating a significant pathological elevation. Surgical intervention was required in 46.3% of cases, predominantly for NVG, lens-induced glaucoma, and traumatic glaucoma-conditions prone to rapid IOP elevation. The etiologies with the highest surgical intervention rates were malignant glaucoma, pigmentary glaucoma, lens-induced glaucoma, and NVG. In contrast, uveitic glaucoma cases were primarily managed with targeted anti-inflammatory therapy, which effectively controlled IOP in the early disease stages and potentially obviated the need for surgery. CONCLUSION: This study identifies NVG, traumatic glaucoma, uveitic glaucoma, and lens-induced glaucoma as the four leading etiologies of SG in Northwestern China. These findings emphasize the critical need for targeted prevention strategies and evidence-based health education programs among high-risk populations. Implementation of such initiatives will improve early detection, enable ophthalmologists to deliver timely therapeutic interventions, and ultimately reduce preventable vision loss in this region.
Int J Ophthalmol
· 2026 · PMID 41524002
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AIM: To evaluate the therapeutic effects of ranibizumab on optic disc and macular microvascular perfusion in central retinal vein occlusion (CRVO) with macular edema (ME). METHODS: Optical coherence tomography angiology...AIM: To evaluate the therapeutic effects of ranibizumab on optic disc and macular microvascular perfusion in central retinal vein occlusion (CRVO) with macular edema (ME). METHODS: Optical coherence tomography angiology (OCTA) parameters, including optic disc vessel density (VD; including whole-disc VD, intra-disc VD, and peripapillary VD), superficial/deep capillary plexus (SCP/DCP) VD, and central macular thickness (CMT) were analyzed. Additional assessments included best-corrected visual acuity (BCVA) Early Treatment Diabetic Retinopathy Study (ETDRS) chart and hemorheological profiling. CRVO patients received monthly intravitreal ranibizumab injections for three consecutive months. Pre- and post-treatment parameters were statistically compared. RESULTS: The study comprised 60 CRVO-ME patients (28 males; 32 females), aged 50-78y (mean 63.3±7.6y) and 60 age-/sex-matched healthy controls. As compared with participants exhibiting normal funduscopic findings, CRVO patients demonstrated significantly elevated levels of low-shear-rate whole blood viscosity (LSR-WBV), high-shear-rate whole blood viscosity (HSR-WBV), and aggregation index (AI, all <0.05). In CRVO-affected eyes, vertical cup-to-disc (C/D) ratio and optic cup volume were significantly smaller, whereas retinal nerve fiber layer (RNFL) thickness was significantly greater, compared to both unaffected contralateral eyes and normal control eyes (all <0.05). Following treatment, VD of the entire optic disc (<0.05), intra-disc VD (<0.05), and peripapillary VD (<0.05) all increased significantly relative to baseline. CMT decreased significantly (<0.05), whereas macular SCP-VD and macular DCP-VD showed non-significant slight reductions (>0.05). At baseline, BCVA of CRVO eyes correlated with whole-disc VD (=-0.276, =0.033), intra-disc VD (=-0.342, =0.009), and peripapillary VD (=-0.335, =0.007), with intra-disc VD demonstrating the strongest association. Besides, BCVA improvement, after the treatment, correlated positively with whole-disc VD (=0.342, =0.008) and intra-disc VD (=0.396, =0.002). CONCLUSION: Optic disc blood perfusion is more closely associated with visual acuity than macular perfusion, suggesting intra-disc VD may serve as a potential biomarker for monitoring visual acuity changes in CRVO. Multiple ranibizumab injections significantly improve optic disc perfusion but may have exerted detrimental effects on the macula. CRVO patients shows higher hemorheological parameters than those with normal fundi. Reduced vertical C/D ratio and optic cup volume may be linked to CRVO incidence, potentially acting as susceptibility factors.
Lischke R, Krause SM, Rauchegger T
… +4 more, Haas G, Koubek M, Nowosielski Y, Rehak M
Int J Ophthalmol
· 2026 · PMID 41524001
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AIM: To report and analyze cases of sterile intraocular inflammation (IOI) following intravitreal faricimab injections in patients treated for neovascular age-related macular degeneration (nAMD) and diabetic macular edem...AIM: To report and analyze cases of sterile intraocular inflammation (IOI) following intravitreal faricimab injections in patients treated for neovascular age-related macular degeneration (nAMD) and diabetic macular edema (DME). METHODS: This double-center case series included nine eyes of six patients who developed uveitis after faricimab therapy. Comprehensive clinical evaluation was performed, including slit-lamp examination, intraocular pressure (IOP) measurement, fluorescein and indocyanine green angiography (ICGA), and laboratory tests. Inflammatory responses were treated with topical or systemic corticosteroids, and patients were monitored for visual acuity and inflammatory activity. RESULTS: The incidence of IOI was 0.8% per patient (Innsbruck) and 0.23% (Czechia), with inflammation typically occurring between the third and sixth injection (mean interval: 10d post-injection). Inflammatory presentations ranged from anterior uveitis to posterior segment involvement. One notable case demonstrated novel choroidal hypofluorescent lesions on angiography, suggesting deeper ocular involvement. The mean patient age was 76y; five of six affected patients were female. All cases responded to local and systemic corticosteroids, with full recovery of initial visual acuity. CONCLUSION: Sterile IOI after faricimab appears to be a rare but relevant adverse event. Although the incidence falls within expected ranges for anti-vascular endothelial growth factor (anti-VEGF) agents, the observed choroidal involvement represents a potentially new safety signal. Prompt diagnosis and corticosteroid therapy are effective in all cases. Our findings support the need for vigilant post-marketing surveillance and further studies to better understand the underlying mechanisms and risk factors of faricimab-associated inflammation.
Narooie-Noori F, Khorrami-Nejad M, Ayad N
… +1 more, Hashemian H
Int J Ophthalmol
· 2026 · PMID 41524000
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AIM: To compare the tear film quantity and stability parameters in keratoconus (KCN) and normal eyes using test breakup time (TBUT), noninvasive TBUT (NITBUT), and Schirmer test. METHODS: All participants (=166), includi...AIM: To compare the tear film quantity and stability parameters in keratoconus (KCN) and normal eyes using test breakup time (TBUT), noninvasive TBUT (NITBUT), and Schirmer test. METHODS: All participants (=166), including patients with KCN and age-matched healthy individuals with normal corneas, were recruited from those referred to Farabi Eye Hospital, Iran, in 2023. To better account for genetic and environmental factors, the control group comprised healthy individuals who were relatives of KCN patients and had normal corneal topography. Tear quantity parameters were evaluated in the following order: NITBUT, TBUT, and Schirmer tests. RESULTS: The mean age of cases in KCN (61.7% males) and normal (63.5% males) participants was 27.54±5.44y (range 19 to 38) and 27.52±5.63y (range 20 to 38), respectively (=0.976). NIBUT, TBUT, and Schirmer's tests were significantly lower in KCN group compared to normal controls (all <0.001). The mean difference for NIBUT was -7.81s (<0.001), and for TBUT was -7.61s (<0.001). Schirmer test values were also significantly lower in the KCN group, with a mean difference of -5.61 mm compared to normal people (<0.001). CONCLUSION: Our findings demonstrate significant tear film impairment in KCN. The reductions in NIBUT, TBUT and Schirmer scores highlight an underlying tear film dysfunction in KCN that extends beyond the morphological changes of the cornea.
Cicek I, Caliskan B, Yavuzer B
… +5 more, Altuner D, Bal Tastan T, Coban TA, Karatas E, Suleyman H
Int J Ophthalmol
· 2026 · PMID 41523999
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AIM: To examine the ocular toxicity linked to sildenafil usage and the possible protective benefits of adenosine triphosphate (ATP) against this toxicity in rats. METHODS: Twenty-four male albino Wistar-type rats were di...AIM: To examine the ocular toxicity linked to sildenafil usage and the possible protective benefits of adenosine triphosphate (ATP) against this toxicity in rats. METHODS: Twenty-four male albino Wistar-type rats were divided into four equal groups (=6/group) as follows: healthy group (HG), ATP-only group (ATPG), sildenafil-only group (SILG), and ATP+sildenafil group (ATP+SLD). ATPG and ATP+SLD groups were injected intraperitoneally with ATP (4 mg/kg), while SILG and HG groups were injected with saline (0.9% NaCl) by the same route as a solvent. One hour after the administration of ATP and solvent, sildenafil (10 mg/kg) was administered orally to the SILG and ATP+SLD groups. This procedure was repeated once a day for 4wk. The animals were then sacrificed, eyeballs were removed and oxidant and antioxidant parameters were measured biochemically. Additionally, the ocular tissues were evaluated histopathologically. RESULTS: Sildenafil increased oxidant (malondialdehyde) levels and decreased antioxidant levels (total glutathione, superoxide dismutase, catalase) in rat ocular tissues and caused severe oxidative stress. In addition, sildenafil has been shown histopathologically to cause oxidative damage in retinal layers. ATP treatment suppressed oxidative stress and attenuated histopathological damage in the retinal layers. CONCLUSION: ATP protects retinal tissue against sildenafil-induced ocular oxidative damage in rats and may contribute to the development of novel approaches to prevent or treat this damage.
Kelkar A, Kelkar J, Dutta S
… +3 more, Bolisetty M, Jain H, Labhsetwar N
Int J Ophthalmol
· 2026 · PMID 41523998
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AIM: To compare the anatomical and functional outcomes of combined phacoemulsification with intravitreal dexamethasone implant (DEX-I) versus anti-vascular endothelial growth factor (VEGF) injections in patients with dia...AIM: To compare the anatomical and functional outcomes of combined phacoemulsification with intravitreal dexamethasone implant (DEX-I) versus anti-vascular endothelial growth factor (VEGF) injections in patients with diabetic macular edema (DME) and visually significant cataract. METHODS: This nonrandomized, retrospective analysis included 54 eyes undergoing phacoemulsification with DEX-I (DEX-I group) and 47 eyes receiving anti-VEGF injections (anti-VEGF group). Best-corrected visual acuity (BCVA) and central macular thickness (CMT) were measured preoperatively and postoperatively at 1 and 3mo. RESULTS: The two groups had comparable baseline characteristics, with similar age (DEX-I: 66.83±7.27y; anti-VEGF: 66.81±6.79y) and gender distribution (51.9% 59.6% males). Both groups showed significant BCVA improvement at 1 and 3mo, with no significant intergroup differences. CMT reduction was significantly greater in the DEX-I group at 3mo (25.03% 14.07%; =0.049), particularly in recalcitrant eyes (25.09% 11.10%; =0.007). Postoperative intraocular pressure (IOP)>21 mm Hg was observed in 14.8% of DEX-I eyes and 4.25% of anti-VEGF eyes (=0.08), normalizing by 3mo. DEX-I required no reinjection, while 29.79% of anti-VEGF eyes needed a fourth dose at 3mo. Complications were minimal, with one posterior capsular injury in the DEX-I group. CONCLUSION: Combined phacoemulsification with intravitreal DEX-I offers superior CMT reduction and comparable visual acuity improvement to anti-VEGF injections in DME, with fewer required treatments. It is an effective strategy for managing cataract with DME, offering benefits, especially for recalcitrant cases. Both therapies have favourable safety profiles, but further long-term studies are needed for clinical guidance.
Guo YM, Bai ZP, Wang JQ
… +5 more, Huang J, Wei JH, Han YJ, Liu Y, Ye L
Int J Ophthalmol
· 2026 · PMID 41523997
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AIM: To identify metastasis-associated prognostic genes and construct a robust molecular signature for survival prediction in uveal melanoma (UVM) patients. METHODS: Transcriptomic data and clinical information from 80 U...AIM: To identify metastasis-associated prognostic genes and construct a robust molecular signature for survival prediction in uveal melanoma (UVM) patients. METHODS: Transcriptomic data and clinical information from 80 UVM patients in the Cancer Genome Atlas (TCGA)-UVM cohort and an external Gene Expression Omnibus (GEO) microarray dataset (GSE73652; 8 non-metastatic 5 metastatic cases) were analyzed to identify differentially expressed genes (DEGs). Functional enrichment, protein-protein interaction (PPI) network construction, and survival analyses identified seven metastasis- and prognosis-related genes. Their expression was further examined using public single-cell RNA-seq data (GSE139829; 11 tumors). Experimental validation was performed in UVM cell lines (92.1, OMM1, MEL270) and adult retinal pigment epithelial (ARPE-19) cells using quantitative real-time polymerase chain reaction (qRT-PCR) and Western blotting to confirm transcriptomic trends. A LASSO Cox model was applied to construct a metastasis-related risk Score signature. Tumor immune microenvironment characteristics were evaluated single-sample gene set enrichment analysis (ssGSEA) and ESTIMATE. Somatic mutation and copy number variation (CNV) profiles were also examined. RESULTS: Seven key genes (, , , , , , ) were significantly associated with overall survival and used to construct a metastasis-related riskScore signature, which effectively stratified patients into high- and low-risk groups and served as an independent prognostic factor. qRT-PCR and Western blot results confirmed that the expression levels of selected key genes in UVM cell lines showed significant differences compared to ARPE-19 cells, which were largely consistent with the transcriptomic findings. The high-risk group exhibited reduced immune infiltration and stromal activity. Single-cell analysis revealed these genes were predominantly expressed in a tumor cell cluster characterized by BAP1 loss and high metastatic potential. Mutation and CNV analyses further supported the relevance of these genes to UVM progression. CONCLUSION: This study establishes and validates a seven-gene signature associated with metastasis and prognosis in UVM. The findings provide a framework for understanding molecular determinants of tumor progression and immune microenvironment alterations, and may offer guidance for future mechanistic studies and therapeutic exploration.
Kang DH, Yuan L, Feng J
… +4 more, Zhan J, Grzybowski A, Sun W, Jin K
Int J Ophthalmol
· 2025 · PMID 41280637
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AIM: To evaluate the potential of artificial intelligence (AI) for automating corneal topography interpretation in orthokeratology patients, aiming to enhance diagnostic precision, efficiency, and clinical decision-makin...AIM: To evaluate the potential of artificial intelligence (AI) for automating corneal topography interpretation in orthokeratology patients, aiming to enhance diagnostic precision, efficiency, and clinical decision-making in myopia management. METHODS: The 1469 corneal topography images from 582 eyes of 326 myopic children treated with orthokeratology lenses over 47mo were collected. Each sample was categorized by decentration, treatment zone size, shape variation, and eye laterality. A multi-task AI model was developed to predict these parameters, with performance measured using area under curve (AUC), accuracy, and F1 scores. We compared AI-only, human-only, and combined Human+AI approaches on a subset of 100 images. External validation with images from additional hospitals tested model generalizability. RESULTS: The model achieved high accuracy in eye-side prediction (AUC 0.95) and AUC values of 0.52-0.74 for decentration, treatment zone, and shape variation tasks. The combined Human+AI method outperformed AI-only and human-only approaches, achieving the highest accuracy (up to 87%) and fastest processing time (80ms). External validation confirmed robust performance in simple tasks, though accuracy was lower for complex classifications due to imaging variations. CONCLUSION: AI provides efficient routine corneal topography assessments, while complex cases benefit most from a Human+AI approach, particularly in scenarios requiring nuanced clinical interpretation. The model currently functions as an assistive tool.
Int J Ophthalmol
· 2025 · PMID 41280636
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AIM: To evaluate whether fluid-air exchange is an effective treatment for unclosed macular hole (MH) after primary vitrectomy. METHODS: This retrospective study included patients with an unclosed MH within 1-2wk after vi...AIM: To evaluate whether fluid-air exchange is an effective treatment for unclosed macular hole (MH) after primary vitrectomy. METHODS: This retrospective study included patients with an unclosed MH within 1-2wk after vitrectomy. Patients were divided into the vitrectomy, fluid-air exchange, and observation groups according to the secondary treatment. The anatomical outcomes and postoperative visual acuity were recorded. RESULTS: The analysis included 25 eyes in 25 patients (16 females) aged 37-74y (vitrectomy group, =10; fluid-air exchange group, =9; observation group, =6). Closure rate after secondary treatment was 100% in the vitrectomy group, 88.9% in the fluid-air exchange group and 33.3% in the observation group. Optical coherence tomography images obtained at the last follow-up revealed that continuity of the external limiting membrane (ELM) was significantly more common (=0.004) in the fluid-air group (8/9 eyes, 88.9%) than in the vitrectomy group (2/10 eyes, 20.0%) and that macular morphology was better in the fluid-air group than in the vitrectomy group. No serious complications were observed after secondary treatment. CONCLUSION: Fluid-air exchange is an alternative option to repeat vitrectomy for patients with an unclosed MH after initial vitrectomy with elevated macular edge.
Zhou YF, Duan HY, Yu HZ
… +5 more, Yang TT, Zhao L, Ma BK, Chen JW, Qi H
Int J Ophthalmol
· 2025 · PMID 41280635
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AIM: To investigate the association between active corneal epithelial dendritic cells (CEDCs) and ocular pain in patients with dry eye disease (DED). METHODS: This cross-sectional study enrolled 67 DED patients, who were...AIM: To investigate the association between active corneal epithelial dendritic cells (CEDCs) and ocular pain in patients with dry eye disease (DED). METHODS: This cross-sectional study enrolled 67 DED patients, who were divided into two groups based on numerical rating scale (NRS) scores: the mild pain group (=44) and the moderate-to-severe pain group (=23). confocal microscopy (IVCM) was used to image the subbasal layer of the central cornea. Corneal nerve characteristics were analyzed using ACCMetrics software, while CEDCs were quantified manually with Image J software. Regression and correlation analyses were performed to assess the impact of active CEDCs on ocular pain. Additionally, the Luminex method was employed to compare the concentrations of inflammation-related cytokines in tears between patients with ≥2 CEDCs and those with <2 CEDCs. Differences in cytokine levels between the two groups were analyzed using Student's -test. RESULTS: The study included 44 eyes of 44 patients with mild ocular pain (12 males and 32 females) and 23 eyes of 23 patients with moderate-to-severe ocular pain (3 males and 20 females). The mean age was 36.2±13.5y in the mild pain group and 39.7±12.4y in the moderate to severe pain group. There were no significant differences in age or sex between the two groups (=0.30; =0.19). Multivariable regression analysis showed that older age [odds ratio (OR) =1.05, 95% confidence interval (CI) 1.00-1.11] and a higher number of CEDCs (OR=1.80, 95%CI 1.17-2.76) were associated with ocular pain. Patients with ≥2 CEDCs had significantly higher tear concentrations of interleukin (IL)-6 (<0.05), IL-8 (<0.05), and tumor necrosis factor (TNF)-α (<0.05) compared to those with <2 active CEDCs. CONCLUSION: The findings suggest that infiltrating CEDCs in the corneal subbasal layer are a potential risk factor for ocular pain in DED.
Mitamura M, Kase S, Suzuki Y
… +4 more, Sakaguchi T, Suimon Y, Kase M, Ishida S
Int J Ophthalmol
· 2025 · PMID 41280634
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AIM: To evaluate the clinical features of primary lacrimal gland pleomorphic adenoma (LGPA). METHODS: This was a 2-center, retrospective, observational study of primary LGPA patients who underwent tumor resection. Ophtha...AIM: To evaluate the clinical features of primary lacrimal gland pleomorphic adenoma (LGPA). METHODS: This was a 2-center, retrospective, observational study of primary LGPA patients who underwent tumor resection. Ophthalmic examinations and orbital computed tomography (CT) and/or magnetic resonance imaging (MRI) were performed. RESULTS: Totally 18 patients (10 males and 8 females, mean age 56.3±13.8y) were enrolled. Initial symptoms were unilateral proptosis in 8 patients, diplopia in 3 patients, and pressure sensation and no chief complaint in 2 patients each. The best-corrected visual acuity of the affected eye was 0.26±0.44 logMAR, and the intraocular pressure (IOP) of the affected and healthy eyes was 20.1±9.9 and 15.8±4.3 mm Hg, respectively. The difference in degree of proptosis between the affected and healthy eyes was 4.1±2.2 mm based on the Hertel ocular protrusion meter. One case had a history of breast cancer. Seventeen of 18 patients with an orbital lacrimal gland origin underwent total tumor excision by anterior/lateral orbitotomy. CONCLUSION: Orbital LGPA can complicate IOP elevation, and require total tumor excision by orbitotomy. In rare cases, systemic malignancy may complicate LGPA, and in such cases total removal of the lacrimal gland tumor should be considered at the initial surgery.
Li J, Yang RZ, Liu R
… +6 more, Wang N, Xu LY, Guo QH, Ren TT, Mao ML, Ma JM
Int J Ophthalmol
· 2025 · PMID 41280633
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AIM: To analyze the general profile, clinical symptoms, pathological features, and prognostic characteristics of extranodal Rosai-Dorfman disease (RDD) with ocular involvement. METHODS: This was a retrospective series of...AIM: To analyze the general profile, clinical symptoms, pathological features, and prognostic characteristics of extranodal Rosai-Dorfman disease (RDD) with ocular involvement. METHODS: This was a retrospective series of case study. Clinical data from 35 cases who had extranodal RDD with ocular involvement were collected for analysis, including 5 cases diagnosed at our hospital and 30 reported in the literature which searched PubMed, the Chinese National Knowledge Infrastructure (CNKI), the Chinese Science and Technology Periodical Database (VIP), and WanFang Data database from database creation to April 2023. Lesion location, clinical presentation, pathological presentation, treatment modality, follow-up time, and prognosis were recorded. RESULTS: Lesions of five cases were located in the orbit, eyelid, lacrimal gland, or conjunctiva. The main presenting features were proptosis, eyelid swelling, and conjunctival hyperemia with decreased vision. Four patients underwent surgical resection, one received surgery and adjunctive immunosuppression, and none experienced recurrence during follow-up. A total of 30 cases were retrieved from the literature. The mean age was 41.4y, and 66.7% were male. The lacrimal gland and conjunctiva/subconjunctiva were the most commonly affected sites (each 20.0%). Most patients received surgical management (50.0%) or immunosuppressive therapy (20.0%). Only one recurrence (3.3%) was reported during follow-up. CONCLUSION: When symptoms like ocular protrusion and visual acuity loss occur, RDD should be considered in the differential diagnosis. The diagnosis of RDD primarily depends on pathological histology, which serves as the key basis for confirmation. Although RDD generally has a favorable prognosis, long-term follow-up of patients is still essential to closely monitor for potential recurrence.
Lu J, Liang SY, Li Z
… +3 more, Gan R, Cheng XR, Chen QS
Int J Ophthalmol
· 2025 · PMID 41280631
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AIM: To report two cases of Jalili syndrome (JS) harboring a novel mutation in the gene, review previously published studies on JS, and analyze factors potentially associated with visual acuity in patients with JS. METH...AIM: To report two cases of Jalili syndrome (JS) harboring a novel mutation in the gene, review previously published studies on JS, and analyze factors potentially associated with visual acuity in patients with JS. METHODS: Two JS patients from a non-consanguineous Chinese family underwent comprehensive ophthalmic evaluations. Next-generation sequencing (NGS) was performed to identify pathogenic variants, and Sanger sequencing was used for validation. A literature search was conducted to retrieve studies on JS published up to January 31, 2025; only studies with detailed records of visual acuity and mutation sites were included. Correlations between visual acuity and age, as well as between visual acuity and mutation domain, were analyzed. RESULTS: A total of 53 patients with detailed visual acuity and mutation site records from previous studies were included in the analysis. The mean logarithm of the minimum angle of resolution (logMAR) visual acuity was 1.15 (range: 0.69-2.00). Spearman's correlation analysis showed a positive correlation between visual acuity (logMAR) and age ( =0.502, <0.001). No association was found between logMAR visual acuity and mutation domain (=0.748). The 6-year-old proband and her 3-year-old brother carried a novel homozygous missense variant c.949A>C (p.Ser317Arg) in . Both patients presented with reduced visual acuity, pendular nystagmus, photophobia, night blindness, color vision loss, macular atrophy, and amelogenesis imperfecta. Optical coherence tomography (OCT) revealed atrophy of the outer retinal layers, and electroretinography (ERG) showed extinguished cone and rod responses. Fundus autofluorescence (FAF) and fundus fluorescein angiography (FFA) of the proband demonstrated bilateral retinal pigment epithelium (RPE) defects around the optic disc, vascular arcades, and macular region. At the latest follow-up (30mo), the proband's condition remained stable: best-corrected visual acuity was 2.00 logMAR (right eye) and 1.30 (left eye), with no changes in fundus appearance. The younger brother had a best-corrected visual acuity of 1.52 logMAR in both eyes at the latest follow-up, accompanied by severe bilateral macular atrophy and obvious dentin discoloration due to progressive enamel thinning. CONCLUSION: This study reports a novel homozygous missense variant c.949A>C (p.Ser317Arg) in in a Chinese JS family. Visual acuity in JS patients deteriorates with increasing age.
Int J Ophthalmol
· 2025 · PMID 41280630
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AIM: To explore the methylation status of in retinoblastoma (RB) and its impact on clinicopathological features and diagnosis. METHODS: Differentially expressed genes were identified through bioinformatics screening of...AIM: To explore the methylation status of in retinoblastoma (RB) and its impact on clinicopathological features and diagnosis. METHODS: Differentially expressed genes were identified through bioinformatics screening of the GSE24673 and GSE125903 datasets, combined with GeneCards database analysis. A total of 102 RB patients and 62 trauma-enucleated controls between January 2018 and December 2023 were enrolled, with their clinicopathological data and retinal tissues collected. The mRNA and methylation levels of in retinal tissues were detected using real-time quantitative polymerase chain reaction (PCR) and methylation-specific PCR. Western blot analysis was conducted in one pair of RB and control tissues for preliminary protein-level validation of MSH6 expression. Based on the methylation status of , RB patients were categorized into two groups: low-methylation and high-methylation. Both univariate and multivariate analyses were conducted to identify independent factors influencing the methylation levels using clinicopathological data. Receiver operating characteristic (ROC) curves were applied to evaluate the diagnostic potential of methylation in RB. RESULTS: Bioinformatics analysis of public datasets revealed that MSH6 expression was downregulated across multiple cancers, RB. Consistently, in clinical RB tissues, mRNA expression was significantly lower than that in control retinal tissues, whereas the promoter methylation level of was markedly higher (both <0.001), indicating that promoter hypermethylation may contribute to transcriptional silencing of in RB. Patients with higher methylation levels showed more advanced pathological classification and a higher frequency of metastasis. Multivariate logistic regression confirmed that metastatic status (=0.008, OR=3.51) and pathological classification (=0.005, OR=3.7) were independent factors associated with MSH6 methylation. Receiver operating characteristic (ROC) analysis demonstrated that methylation could effectively distinguish RB tissues from non-tumorous controls (AUC=0.847, sensitivity=78.43%, specificity=80.65%), suggesting that hypermethylation may serve as a potential diagnostic biomarker for RB. CONCLUSION: The methylation level of the gene may be a key factor in RB pathogenesis. The methylation status of the gene is closely associated with clinicopathological features and shows diagnostic potential.
Ye CY, Liu YJ, Xing WQ
… +3 more, Shang JM, Xu YF, Qu XM
Int J Ophthalmol
· 2025 · PMID 41280629
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AIM: To analyze ocular parameters and refractive status in children aged 3-12y and to explore differences in these parameters across age groups with identical refractive status for studying refractive progression. METHOD...AIM: To analyze ocular parameters and refractive status in children aged 3-12y and to explore differences in these parameters across age groups with identical refractive status for studying refractive progression. METHODS: Demographic characteristics, cycloplegic refraction data, and ocular parameters of the participants were collected. Changes in ocular parameters were described according to different age groups. After adjusting for refractive factors, the relationship between age and ocular parameters was explored. Standard regression coefficients () obtained from multiple linear regressions were used to compare the magnitude of the effect of age on the parameters and ocular components on refractive power. RESULTS: Data were collected from the right eyes of 1504 participants. Lens thickness (LT) decreased with age, whereas the axial length (AL) and anterior chamber depth (ACD) increased. In the high-hyperopia group, changes in age were only associated with AL and LT. In the low-myopia group, the increase in age was also associated with corneal astigmatism. In the overall model, the value for LT was the highest at 0.41, whereas for ACD and AL was significant in all groups except for the high-hyperopia group. The value of the LT on refractive power in children was slightly greater in the low age group than in the high age group. CONCLUSION: Among children with the same refractive status, the older the age, the longer the axis length and the thinner the lens. The lens affected refractive power in children in the younger age group more than in the older age group. The ocular parameter most affected by age was LT.
Wang LP, Dang WJ, Yan H
… +3 more, Gong K, Deng J, Sun WT
Int J Ophthalmol
· 2025 · PMID 41280628
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AIM: To evaluate the surgical outcomes of the perfluorocarbon liquid (PFCL)-assisted inverted multilayer internal limiting membrane (ILM) flaps covering technique in macular hole retinal detachment (MHRD) in high myopia...AIM: To evaluate the surgical outcomes of the perfluorocarbon liquid (PFCL)-assisted inverted multilayer internal limiting membrane (ILM) flaps covering technique in macular hole retinal detachment (MHRD) in high myopia with axial length (AL) ≥30 mm. METHODS: In this retrospective, interventional, consecutive comparative study, 44 MHRD eyes were divided into two groups: the PFCL-assisted inverted multilayer ILM flaps covering technique group (Group 1, 21 eyes) and the ILM peeling group (Group 2, 23 eyes). The follow-up period was >12mo. Postoperative outcomes, including retinal reattachment, macular hole (MH) closure, and best-corrected visual acuity (BCVA), were assessed. Statistical analysis using the Mann-Whitney test and Fisher's exact test was conducted to compare differences between groups. RESULTS: There were no statistically significant differences in baseline preoperative clinical characteristics, including age, sex, AL, diopters, duration of symptom, lens status, posterior staphyloma presence and extent of RD. Retinal reattachment rates were higher in Group 1 (90.5%) than in Group 2 (82.6%), without statistical significance (=0.667). MH closure rates were significantly higher in Group 1 (85.7%) than in Group 2 (17.4%; <0.001). The Group-1 BCVA (logMAR) improved significantly from 2.13±0.91 preoperatively to 1.21±0.66 postoperatively (=0.026). The Group 2 BCVA improved significantly from 1.91±0.53 preoperatively to 1.19±0.41 postoperatively (=0.032). However, there were no significant differences in visual-acuity improvement between groups (=0.460). CONCLUSION: This technique offers a more effective approach for improving MH closure rates and postoperative visual function in MHRD with AL≥30 mm in high myopia.
Ebrahimi F, Kangari H, Akbarzadeh-Bagheban A
… +1 more, Rahmani S
Int J Ophthalmol
· 2025 · PMID 41280627
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AIM: To evaluate the effects of polarized and non-polarized sunglasses on visual functions, including distance and near visual acuity, phoria, stereopsis and contrast sensitivity across five spatial frequencies (1.5, 3,...AIM: To evaluate the effects of polarized and non-polarized sunglasses on visual functions, including distance and near visual acuity, phoria, stereopsis and contrast sensitivity across five spatial frequencies (1.5, 3, 6, 12, 18 cycles/degree). METHODS: A before-after study was conducted on 45 emmetropic students from Shahid Beheshti University of Medical Sciences. Visual acuity, contrast sensitivity, stereopsis and phoria were measured under three conditions: without sunglasses, with non-polarized sunglasses and with polarized sunglasses. Tests were conducted under controlled glare conditions to simulate outdoor environments. RESULTS: A total of 45 participants were evaluated, comprising 17 males (37.8%) and 28 females (62.2%). The mean age was 21.67±2.31y (range 18-27y). The mean of distance and near visual acuity in all three conditions were equal to 0.00 logMAR. Contrast sensitivity generally decreased slightly with the use of non-polarized sunglasses compared to the no-sunglasses condition. The mean stereopsis with polarized sunglasses was 101.33±56.139 arc sec, which was worse than the no-sunglasses condition (94.33±46.632 arc sec) and better than the non-polarized sunglasses condition (105.67±58.965 arc sec), although these changes were not significant. In the phoria parameter, distance phoria appeared more affected than near phoria. CONCLUSION: Polarized and non-polarized sunglasses do not significantly affect visual acuity, stereopsis, or phoria under controlled glare conditions. Slight changes in contrast sensitivity are noted, but they are not statistically significant.