掲載種別：研究論文（学術雑誌）  

DOI： 10.1093/mr/roaf103

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掲載種別：研究論文（学術雑誌）  

DOI： 10.2147/OPTH.S596218

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

PURPOSE: The SIX6 gene is a major susceptibility gene for human glaucoma, and its variants have been implicated in structural and functional alterations of the retina, such as nerve fiber layer thinning and retinal ganglion cell degeneration, which contribute to glaucoma development. This study investigated whether SIX6 polymorphisms are associated with glaucoma in dogs, focusing on the Shiba-Inu and Shih-Tzu breeds. METHODS: We genotyped 19 single nucleotide polymorphisms within the SIX6 gene region in 109 Shiba-Inus (49 cases and 60 controls) and 57 Shih-Tzus (18 cases and 39 controls), followed by association analyses. Comparative sequence analysis of canine and human SIX6 was performed to assess evolutionary conservation. RESULTS: In Shiba-Inus, rs851962234, located in the 3'-untranslated region of SIX6, was significantly associated with glaucoma (P = 0.0047; Pc = 0.038), with the minor A allele showing a frequency of 17.3% in cases and 4.2% in controls, and conferring an increased risk (odds ratio, 3.56). In contrast, rs851962234 showed no association in Shih-Tzus, likely owing to the rarity of the A allele in this breed. No other single nucleotide polymorphisms were associated with glaucoma in either breed. A comparative analysis showed a 98.4% amino acid identity between canine and human SIX6 across the coding regions. CONCLUSIONS: This study identifies rs851962234 in canine SIX6 as being significantly associated with glaucoma in Shiba-Inus, suggesting its potential role in modulating SIX6 expression and retinal ganglion cell vulnerability. These findings offer new insight into the genetic basis of canine glaucoma and highlight parallels and distinctions with human disease.

DOI： 10.1167/iovs.67.1.5

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掲載種別：研究論文（学術雑誌）  

DOI： 10.1186/s12886-025-04605-8

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

PURPOSE: Fungal endophthalmitis (FE) is a rare but severe intraocular infection that may cause irreversible vision loss. Because conventional cultures are slow and insensitive and serum β-D-glucan (BDG) has limited value for intraocular disease, we evaluated the diagnostic accuracy of BDG testing in aqueous humor (AH) and vitreous humor (VH) for FE. METHODS: We searched PubMed, Web of Science, EMBASE, and the Cochrane Library for studies of intraocular BDG testing for FE. Pooled sensitivity and specificity were calculated using a random-effects model, and the area under the summary receiver operating characteristic (SROC) curve and diagnostic odds ratio were used to assess diagnostic performance. Study quality was evaluated with QUADAS-2. An exploratory post hoc subgroup analysis compared AH and VH when specimen-specific data were available. RESULTS: Six studies were identified and included. The pooled sensitivity and specificity of intraocular BDG testing were 0.86 (95% CI: 0.77-0.92) and 0.85 (95% CI: 0.78-0.90), respectively. The area under the SROC curve was 0.913, indicating good diagnostic accuracy, and no heterogeneity was observed for either sensitivity or specificity (both I² = 0.0%). Methodological quality was moderate, mainly because of patient-selection bias. In an exploratory specimen-type subgroup, study-level estimates ranged as follows: AH sensitivity 0.82-0.86 and specificity 0.80-0.87; VH sensitivity 0.94-1.00 and specificity 0.82-0.96. CONCLUSION: Intraocular BDG shows high diagnostic accuracy for FE and may serve as a valuable adjunctive tool, particularly when conventional culture methods are inconclusive or delayed.

DOI： 10.1080/09273948.2025.2599369

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

PURPOSE: To characterize bullous keratopathy (BK) associated with a shallow anterior chamber (AC) and to examine whether a shallow AC itself may be associated with corneal endothelial decompensation, even in the absence of acute primary angle closure (APAC) or argon laser iridotomy (ALI). METHODS: This multicenter retrospective observational study included 96 eyes that underwent Descemet membrane endothelial keratoplasty (DMEK) for endothelial dysfunction between 2015 and 2025 with ≥12 months of follow-up. The primary comparative analyses compared eyes with Fuchs endothelial corneal dystrophy (FECD) and eyes with endothelial dysfunction associated with a shallow AC. The shallow anterior chamber phenotype group comprised eyes with a documented history of APAC or ALI (PACD/ALI) and those without a documented history of either condition (shallow-AC). Anterior chamber depth (ACD), axial length, corneal thickness, endothelial parameters, and postoperative outcomes were compared between groups. RESULTS: Pre-cataract ACD was significantly shallower in the shallow anterior chamber phenotype group than in the FECD group (1.93 ± 0.40 mm vs. 2.28 ± 0.27 mm, P < 0.001), and this relative difference persisted after cataract surgery. Within the shallow anterior chamber phenotype group, 10 eyes were classified as shallow-AC and had no documented history of APAC or ALI. Five-year graft survival after DMEK exceeded 90% and did not differ significantly between the shallow anterior chamber phenotype and FECD groups, nor between PACD/ALI and shallow-AC subgroups. CONCLUSIONS: A shallow anterior chamber may be associated with corneal endothelial decompensation, even in the absence of APAC or ALI. With appropriate perioperative management, DMEK may provide favorable long-term outcomes in these eyes.

DOI： 10.1371/journal.pone.0353272

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掲載種別：研究論文（学術雑誌）  

DOI： 10.3390/jcm14248946

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

PURPOSE: To evaluate whether sub-Tenon triamcinolone acetonide (STTA) reduces cystoid macular edema (CME) after Descemet membrane endothelial keratoplasty (DMEK) and to identify associated risk factors. METHODS: This retrospective, multicenter observational study included 96 eyes of 78 patients who underwent DMEK in Japan and were followed for ≥12 months. Demographic, ocular, and surgical variables were collected. CME was assessed using spectral-domain optical coherence tomography. Kaplan-Meier analysis with log-rank testing compared CME-free survival between eyes with and without STTA. Cox proportional hazards regression identified risk factors. Best-corrected visual acuity at 12 months was compared between CME-positive and CME-negative eyes. RESULTS: CME developed in 13 eyes (13.5%). Kaplan-Meier analysis showed no significant difference in CME-free survival between STTA users (90.9%) and nonusers (84.6%) at 360 days (P = 0.593). Most CME cases occurred within 90 days postoperatively. Multivariable analysis indicated that preoperative anterior chamber depth showed a trend toward association with CME (P = 0.058), and rebubbling was independently associated with increased risk (P = 0.034). Eyes requiring ≥2 rebubbling procedures had a higher CME risk compared with eyes without rebubbling (P = 0.029). Age, STTA use, and nonsteroidal antiinflammatory drug use were not significantly associated with CME. At 12 months, best-corrected visual acuity did not differ between groups (P = 0.419). CONCLUSIONS: STTA was not significantly associated with a lower incidence of CME after DMEK. Shallow anterior chamber depth showed a trend toward association, and rebubbling was significantly associated, suggesting the need for careful postoperative evaluation.

DOI： 10.1097/ICO.0000000000004060

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掲載種別：研究論文（学術雑誌）  

DOI： 10.2147/OPTH.S549896

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

PURPOSE: This study evaluated the effectiveness and safety of the biosimilar infliximab CT-P13 in treating refractory uveitis associated with Behçet's disease. STUDY DESIGN: Retrospective study. METHODS: A retrospective analysis of medical records from seven patients was conducted, categorizing them into two groups: those initially treated with CT-P13 (Group 1) and those switched from other tumor necrosis factor inhibitors (Group 2). Data on demographics, treatment duration, ocular inflammatory attacks, visual acuity changes, relapse rates, and adverse events were collected. RESULTS: Seven patients (mean age: 32.0 ± 17.7 years) with refractory uveitis associated with Behçet's disease were included. Four patients in Group 1 received CT-P13 as their first-line biologic therapy, of whom two (50%) achieved remission. All patients exhibited a significant reduction in relapses in the 6 months before and after CT-P13 treatment (Wilcoxon test, p = 0.031). Three patients in Group 2, switched from original infliximab, maintained remission for an average of 11.0 ± 2.0 months. Overall, 71.4% of patients achieved remission. No significant changes in visual acuity were observed in either group. One adverse event occurred, but no adverse drug reactions were reported. CONCLUSION: The biosimilar infliximab CT-P13 appears to be an effective and cost-efficient option for managing refractory uveitis in Behçet's disease. This finding highlights its potential in managing this challenging condition and warrants further investigation in larger patient cohorts.

DOI： 10.1007/s10384-025-01206-2

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掲載種別：研究論文（学術雑誌）  

DOI： 10.2147/OPTH.S547179

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記述言語：英語  

Web of Science

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

Objective: This research seeks to investigate the effects of preoperative intense pulsed light with manual meibomian expression (IPL-MGX) on the refractive accuracy of cataract surgery on dry eyes with meibomian gland dysfunction (MGD-related dry eyes). Methods: Fifty-six MGD-related dry eye cases planned for cataract surgery were analyzed. IPL-MGX (four times at 2-week intervals) was performed before preoperative examination. Axial length (AL), anterior chamber depth (ACD), corneal curvature (mean-K), tear break-up time (TBUT), superficial punctate keratopathy in the central cornea (C-SPK), corneal higher-order aberrations (HOAs), and predicted postoperative spherical equivalent (P-SE) were evaluated pre- and post-IPL-MGX. The postoperative subjective spherical equivalent (S-SE) was evaluated after one month. The absolute difference between the S-SE and P-SE was considered an indication of P-SE accuracy. Changes in all the variables were assessed before and after IPL-MGX treatment. Results: No significant differences were observed in AL or ACD (p = 0.85, 0.56). The differences in mean-K, TBUT, C-SPK, and HOAs were significant (p < 0.01). P-SE accuracy based on post-IPL-MGX data was significantly higher than that based on pre-IPL-MGX data (p < 0.01). P-SE accuracy was within 0.25 diopters (D) in 14.3% of pre- and 55.4% of post-IPL-MGX, within 0.5D in 55.4% of pre- and 92.9% of post-IPL-MGX, within 0.75D in 98.2% of pre- and post-IPL-MGX, and within 1.0D in 98.2% of pre- and 100% of post-IPL-MGX. In the range of 0.25 and 0.5 D, the accuracy of P-SE was significantly higher in post-IPL-MGX (p < 0.01). Conclusions: Preoperative IPL-MGX considerably improved the predicted postoperative refraction accuracy in patients with MGD-related dry eye undergoing cataract surgery.

DOI： 10.3390/jcm14082805

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

To determine the efficacy and safety of selective laser trabeculoplasty (SLT) in patients with uveitic glaucoma, we retrospectively evaluated 17 eyes from 13 consecutive uveitic glaucoma cases who were treated with SLT due to inadequate interocular pressure (IOP) control despite glaucoma medical therapy. The mean IOP was significantly decreased from 28.4 ± 6.50 mmHg to 17.3 ± 9.4 mmHg at baseline, and 6 months after SLT, respectively (P < 0.0001). There was no significant increase in inflammation or prednisolone dosage following SLT. We compared the success group, which demonstrated successful IOP reduction after 6 months of SLT, to the other failure group. The success group had shorter uveitis duration (1.37 ± 0.41 vs. 1.97 ± 0.80 years, P = 0.032) and lower baseline IOP (25.5 ± 5.09 vs. 33.7 ± 5.57 mmHg, P = 0.035). This study found that SLT had a positive IOP-lowering effect and was safe in patients with uveitic glaucoma who had not responded to medical treatment.

DOI： 10.1038/s41598-025-88354-0

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掲載種別：研究論文（学術雑誌）  

DOI： 10.1097/j.jcro.0000000000000200

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

Background/Objectives: Meibomian gland dysfunction (MGD)-related dry eye aggravates postoperative visual outcomes in cataracts. Diffractive trifocal intraocular lenses (IOLs) decrease contrast sensitivity (CS). Intense pulsed light (IPL) improves tear film stability and ocular surface conditions in MGD-related dry eyes. We investigated the effect of preoperative MGD-related dry eye treatment combining manual meibomian gland expression (MGX) with IPL (IPL-MGX) on visual outcomes post-cataract surgery with diffractive trifocal IOL implantation. Methods: In this single-center, prospective, and open-label study, we enrolled 67 patients (134 eyes) with MGD-related dry eye undergoing cataract surgery on both eyes. Preoperatively, IPL-MGX was performed on one eye (IPL-MGX group) but not the contralateral eye (control group). Tear break-up time, high-order aberrations, and central superficial punctate keratopathy (C-SPK) were assessed. CS and corrected distance visual acuity were analyzed. Differences between groups were analyzed at 1 week, 1 month, and 3 months postoperatively. Results: The IPL-MGX group showed greater mean tear break-up time and lower mean high-order aberration and C-SPK values after preoperative IPL treatment and postoperatively (all p < 0.01). Postoperative CS was higher in the IPL-MGX group at 1 week (all spatial frequencies) (p < 0.01 [cpd = 2.9, 4.5, 7.1, and 10.2] and p < 0.05 [cpd = 1.1 and 1.8]); 1 month [2.9-10.2 cpd] (p < 0.01); and 3 months [4.5-10.2 cpd] (p < 0.01 [cpd = 10.2] and p < 0.05 [cpd = 4.5 and 7.1]) postoperatively. Mean corrected distance visual acuity was higher in the IPL-MGX group only postoperatively (p < 0.01). Conclusions: Preoperative MGD-related dry eye treatment using IPL-MGX enhances tear film stability, ocular surface conditions, and visual outcomes, potentially improving postoperative vision quality and patient satisfaction.

DOI： 10.3390/jcm13226973

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

INTRODUCTION: Dry eye can compromise corneal astigmatism measurement repeatability during preoperative cataract surgery examination. No previous studies have analyzed the effectiveness of long-acting 3% diquafosol sodium (LA-DQS) on astigmatism measurement repeatability. This research assessed the effect of LA-DQS on astigmatism measurement repeatability in preoperative patients with cataract and short tear break-up time (TBUT) type dry eyes in both eyes of the same patient. Correlations between repeatability and TBUT, corneal high-order aberrations (HOAs), and corneal astigmatism magnitude were also analyzed. METHODS: In total, 122 eyes (61 patients) with short TBUT-type dry eye were enrolled. Preoperatively, only one eye of all patients was treated with LA-DQS for 4 weeks. TBUT and corneal HOAs were checked using CASIA 2 before and 4 weeks post-treatment. The cylindrical power and meridian of astigmatism were measured at 3- and 4-week post-treatment using IOLMaster 700. Power vectors J0 and J45 were used for astigmatism calculations. Repeatability of astigmatism measurements was assessed as the within-subject standard deviation (Sw). The relative effects of TBUT and HOAs on J0 Sw and J45 Sw were also analyzed. Comparative changes in these variables were evaluated between treated and non-treated eyes, with additional analysis of their correlations. RESULTS: Treated eyes exhibited significant improvements in TBUT, HOAs, and post-treatment measurements of J0 Sw and J45 Sw at 3 and 4 weeks. In non-treated eyes, J0 Sw and J45 Sw showed significant correlation with TBUT and corneal HOAs. HOAs showed stronger relative associations with J0 Sw and J45 Sw than TBUT. In non-treated eyes, no significant correlation was found between cylindrical power and astigmatism measurement repeatability. CONCLUSIONS: In short TBUT-type dry eye, preoperative treatment with LA-DQS significantly improved astigmatism measurement repeatability. This may improve the precision of intraocular lens (IOL) power calculations regardless of the magnitude of corneal astigmatism, especially when toric IOLs are used.

DOI： 10.1007/s40123-024-00940-z

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

Several studies have evaluated immune checkpoint inhibitors (ICIs) for metastatic uveal melanoma; however, the efficacy of ICIs in the previous studies varied greatly. In this systematic review, we searched for prospective or retrospective studies on single or dual-ICIs for metastatic uveal melanoma treatment. A random-effect model meta-analysis with generic inverse-variance was conducted, and 36 articles representing 41 cohorts of 1414 patients with metastatic uveal melanoma were included. The pooled outcomes were as follows: objective response rate (ORR) was 5.6% (95% confidence interval [95%CI] 3.7-7.5%; I2, 36%), disease control rate (DCR) was 32.5% (95% CI 27.2-37.7%; I2, 73%), median progression-free survival was 2.8 months (95% CI 2.7-2.9 months; I2, 26%), and median overall survival (OS) was 11.2 months (95% CI 9.6-13.2 months; I2, 74%). Compared to single-agent ICI, dual ICI led to better ORR (single-agent: 3.4% [95% CI 1.8-5.1]; dual-agent: 12.4% [95% CI 8.0-16.9]; P < 0.001), DCR (single-agent: 29.3%, [95% CI 23.4-35.2]; dual-agent: 44.3% [95% CI 31.7-56.8]; P = 0.03), and OS (single-agent: 9.8 months [95% CI 8.0-12.2]; dual-agent: 16.3 months [95% CI 13.5-19.7]; P < 0.001). Our analysis provided treatment outcomes as described above. Dual-ICIs appear better than single-agent ICIs for the treatment of metastatic uveal melanoma.

DOI： 10.1038/s41598-024-55675-5

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

PURPOSE: This prospective observational study aimed to explore the diversity in lacrimal pathway morphology among patients with congenital nasolacrimal duct obstruction (CNLDO) by examining dacryocystography (DCG) images. PATIENTS AND METHODS: The study included 64 patients who underwent DCG before undergoing general anesthesia probing for unilateral CNLDO. Several parameters were measured from the lateral view of the DCG images: (1) the lacrimal sac (LS) and the nasolacrimal duct (NLD) angle, (2) the angle formed by the superior orbital rim (SOR), LS, and the NLD, (3) LS length, and (4) bony NLD length. Additionally, frontal views of the DCG images were utilized to measure (5) LS-NLD angle and (6) LS angle concerning the midline. RESULTS: The average age of the patients was 34.3 months. The mean ± standard deviation of the measurements of the above parameters was (1) -1.2° ± 16.5° (range: -44.6° ± 46.6°), (2) -5.0° ± 10.3° (range: -24.0° ± 19.0°), (3) 10.2 ± 2.4 mm (range: 6.5-16.0 mm), (4) 8.0 ± 2.5 mm (range: 3.1-14.8 mm), (5) 15.6° ± 11.2° (range: -16.8° ± 41.0°), and (6) 15.1 ± 5.2° (range: 3.3°-29.8°). All parameters, except for parameter (3), conformed to a normal distribution. CONCLUSION: This study provides valuable anthropometric data derived from DCG images, highlighting the substantial variability in lacrimal pathway morphology among patients with CNLDO. Furthermore, anatomical constraints made probing with a straight metal bougie anatomically infeasible in 25.0% of the patients included in this study.

DOI： 10.2147/OPTH.S467150

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

INTRODUCTION: Although uncommon, incomplete capsulotomy, anterior capsule tags and anterior capsule tears are still encountered during femtosecond laser-assisted cataract surgery (FLACS), resulting in surgical complications. This highlights the need to improve femtosecond laser-assisted capsulotomy technique to reduce capsulotomy-related complications. Therefore, the purpose of this study was to investigate the efficacy of a newly developed, modified technique of setting capsulotomy irradiation thickness in lowering the incidence of capsulotomy-related complications in FLACS. METHODS: This open-label prospective, comparative cohort study included 440 eyes (220 patients) treated with FLACS using the LenSx laser system (Alcon Laboratories, Inc. Fort Worth, TX, USA). Varying capsulotomy irradiation thicknesses were applied in each eye of the same patient. In Group 1, capsulotomy irradiation thickness was set between the upper edge of the highest point of the anterior capsule and the lower edge of the lowest point of the anterior capsule (modified technique). In Group 2, this was set between the center of the highest point of the anterior capsule and the center of the lowest part of the anterior capsule (conventional technique). Incidence rates of incomplete capsulotomy, anterior capsule tags and tears, and posterior capsule tears were compared. RESULTS: Preoperative baseline characteristics showed no significant differences. Mean total of the irradiation thicknesses was 877.1 ± 81.9 µm in Group 1 and 808.9 ± 80.0 in Group 2, with a statistically significant difference (P < 0.001). Incidences of incomplete capsulotomy were 1.8% and 7.7%, anterior capsule tags were 2.3% and 8.6%, and anterior capsule tears were 0% and 3.2% in Groups 1 and 2, respectively. These differences were statistically significant (P = 0.006, 0.005, and 0.015, respectively). No posterior capsule tears were reported in either group. CONCLUSION: The modified technique for capsulotomy in FLACS may significantly reduce the occurrence of capsulotomy-related complications, maximizing the benefits of FLACS.

DOI： 10.1007/s40123-023-00770-5

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

Nocturnal and circadian intraocular pressure (IOP) fluctuations are important issues in glaucoma treatment. Ripasudil 0.4% eye drops, a new glaucoma medication, lowers IOP by increasing aqueous humor outflow through the trabecular meshwork. We aimed to compare differences between circadian IOP fluctuations measured using a contact lens sensor (CLS) before and after administering 0.4% ripasudil eye drops adjunctively to patients with primary open-angle glaucoma (POAG) and normal tension glaucoma (NTG). Patients with POAG (n = 1) and NTG (n = 5) underwent 24 h IOP monitoring with a CLS before and after administering ripasudil eye drops every 12 h (8 a.m., 8 p.m.) for 2 weeks without discontinuing currently used glaucoma medications. No vision-threatening adverse event occurred. The reduction in IOP fluctuation and the reduction in the SD of IOP in 24 h, awake time and sleep time did not reach statistical significance. The baseline office-hour IOP, which was measured using Goldmann applanation tonometry (GAT), ranged in the low teens, and the reduction in office-hour IOP also did not show a significant difference. Further study is necessary to evaluate whether the low baseline IOP with less IOP reduction relates to attenuated IOP fluctuation reduction.

DOI： 10.3390/jpm13050800

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

PURPOSE: To investigate risk factors for increased intraocular pressure (IOP) after Descemet membrane endothelial keratoplasty (DMEK) in Asian patients. METHODS: Data from January 2015 to February 2021 were obtained from our prospective database. IOP elevation after DMEK was defined as IOP ≥ 22 mmHg or an increase in IOP of ≥ 10 mmHg from baseline. In addition, we examined maximum IOP. Using iCare, we measured IOP 1, 2, 3, and 6 months after DMEK, and every 6 months thereafter. Logistic regression and linear regression were performed to find factors predictive of IOP elevation and maximum IOP, respectively, based on the results of univariate analysis. RESULTS: We enrolled 90 eyes (mean patient age, 74.9 ± 7.5 years; mean follow-up duration, 25.6 ± 9.9 months) that underwent DMEK. IOP elevation was present in 19 eyes (21%). IOP increased from 12.6 ± 3.9 mmHg preoperatively to a postoperative maximum of 17.0 ± 5.5 mmHg up to 36 months after DMEK (p < 0.0001). In univariate logistic regression analysis for IOP elevation, only one variable, pseudoexfoliation syndrome (PEX) and preexisting glaucoma, was significant (p < 0.05). Preexisting glaucoma without PEX (OR, 19.33; 95% CI, 4.75-93.46), PEX without glaucoma (OR, 7.25; 95% CI, 1.20-41.63), and PEX glaucoma (OR, 58.00; 95% CI, 6.78-1298.29) were associated with higher risk of IOP elevation. CONCLUSIONS: In this cohort, the eyes of patients with PEX and preexisting glaucoma were found to be prone to IOP elevation after DMEK.

DOI： 10.1007/s00417-022-05835-y

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

OBJECTIVES: No large-scale registration study has comprehensively evaluated the activities of daily living (ADL) in patients with Behçet's disease. METHODS: The Japanese government provided us with a dataset of confirmed or suspected Behçet's disease cases derived from ongoing national registration. ADL were categorized and analysed into four categories in patients who satisfied the International Criteria for Behçet's Disease. RESULTS: Data from 2960 patients (men 38.9%, women 61.1%; median age 39 years) were assessed. While 1767 patients (59.7%) had normal ADL, the others had impaired ADL comprising limited but not assisted [n = 1058 (35.7%)], partially assisted [n = 116 (3.9%)] and fully assisted [n = 19 (0.6%)]. Logistic regression analysis showed that chronic ocular lesions [odds ratio (OR) 1.85 (95% CI 1.46, 2.35), P < 0.001], paralysis [OR 2.51 (95% CI 1.58, 3.97), P < 0.001], psychosis [OR 3.16 (95% CI 2.02, 4.95), P < 0.001] and arthritis [OR 1.69 (95% CI 1.44, 1.99), P < 0.001] led to the risk of impaired ADL. Chronic ocular lesions [OR 3.61 (95% CI 2.27, 5.72), P < 0.001], paralysis [OR 3.43 (95% CI 1.87, 6.30), P < 0.001] and psychosis [OR 3.60 (95% CI 2.00, 6.50), P < 0.001] were related to the requirement of physical assistance (partially or fully assisted), although arthritis [OR 1.39 (95% CI 0.93, 2.06), P = 0.108] was not a significant factor in this model. CONCLUSION: Ocular lesions, neurological manifestations and arthritis affected ADL. Patients with ocular lesions or neurological manifestations more frequently required physical assistance.

DOI： 10.1093/rheumatology/keab499

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

BACKGROUND: How HLA-A26 modulates Behçet's disease (BD) ocular lesions such as iridocyclitis and retinochorioiditis has not been scrutinized. METHODS: Ministry of Health, Labour and Welfare of Japan provided us a database of BD patients who were registered from 2003 to 2014. We selected patients who satisfied International Criteria for BD and whose data for HLA-A26 was available. RESULTS: Eligible 557 patients consisting of 238 men (42.7%) and 319 women (57.3%), whose median age was 38 years old (interquartile range 29-47) were analyzed. Prevalence of general ocular lesions, iridocyclitis, retinochorioiditis, and chronic lesions were 43.1%, 30.7%, 34.1%, and 17.4%, respectively. The prevalence of ocular lesions was higher among HLA-A26 carriers compared to that among HLA-A26 non-carriers with odds ratio (OR) of 2.5 (95% confidence interval (95% CI) 1.8-3.5, p < .001) for general ocular lesions, OR of 2.5 (95% CI 1.7-3.6, p < .001) for iridocyclitis, OR of 2.8 (95% CI 1.9-4.0, p < .001) for retinochorioiditis, and OR of 2.7 (95% CI 1.7-4.3, p < .001) for 'chronic ocular lesion following iridocyclitis or retinochorioiditis'. The HLA-A26 had a similar impact on ocular lesions between HLA-B51 positive and negative cases (Breslow-Day test, p > .05). However, the HLA-A26 had a larger impact on iridocyclitis for men compared to women (Breslow-Day test, p = .040). The male HLA-A26 carriers had higher risk of iridocyclitis with OR of 3.4 (95% CI 2.0-5.9, p < .001), while the OR for women was 1.5 (95% CI 0.9-2.6, p = .146). CONCLUSION: HLA-A26 carriers had higher risk for iridocyclitis and retinochorioiditis. However, the impact was more prominent for men.

DOI： 10.1080/14397595.2019.1705538

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

PURPOSE: To identify novel susceptibility loci for high myopia. DESIGN: Genome-wide association study (GWAS) followed by replication and meta-analysis. PARTICIPANTS: A total of 14 096 samples from East and Southeast Asian populations (2549 patients with high myopia and 11 547 healthy controls). METHODS: We performed a GWAS in 3269 Japanese individuals (1668 with high myopia and 1601 control participants), followed by replication analysis in a total of 10 827 additional samples (881 with high myopia and 9946 control participants) from Japan, Singapore, and Taiwan. To confirm the biological role of the identified loci in the pathogenesis of high myopia, we performed functional annotation and Gene Ontology (GO) analyses. MAIN OUTCOME MEASURES: We evaluated the association of single nucleotide polymorphisms with high myopia and GO terms enriched among genes identified in the current study. RESULTS: We identified 9 loci with genome-wide significance (P < 5.0 × 10-8). Three loci were previously reported myopia-related loci (ZC3H11B on 1q41, GJD2 on 15q14, and RASGRF1 on 15q25.1), and the other 6 were novel (HIVEP3 on 1p34.2, NFASC/CNTN2 on 1q32.1, CNTN4/CNTN6 on 3p26.3, FRMD4B on 3p14.1, LINC02418 on 12q24.33, and AKAP13 on 15q25.3). The GO analysis revealed a significant role of the nervous system related to synaptic signaling, neuronal development, and Ras/Rho signaling in the pathogenesis of high myopia. CONCLUSIONS: The current study identified 6 novel loci associated with high myopia and demonstrated an important role of the nervous system in the disease pathogenesis. Our findings give new insight into the genetic factors underlying myopia, including high myopia, by connecting previous findings and allowing for a clarified interpretation of the cause and pathophysiologic features of myopia at the molecular level.

DOI： 10.1016/j.ophtha.2020.05.014

PubMed

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

Objectives: To scrutinize the influence of HLA-B51 to each clinical manifestation of patients with Behçet's disease (BD) using a database of the Ministry of Health, Labour and Welfare of Japan.Methods: The database of newly registered patients with BD was obtained from the Japanese Ministry of Health, Labour and Welfare. Patients who met International Criteria for Behçet's Disease (ICBD) and had data for HLA-B51 were selected and analyzed.Results: Among the 3044 analyzable cases, 1334 (43.8%) were men and 1710 (56.2%) were women; the median age was 38 years (IQR 29-48). HLA-B51 was positive for 1334 (44.5%). Prevalence of selected manifestations was 98.5% for oral ulceration, 85.5% for skin lesion, 42.1% for ocular lesion, 69.1% for genital ulceration, and 29.0% for gastrointestinal symptom. HLA-B51-positive patients had higher risk for ocular lesion (OR 1.59, 95%CI: 1.37-1.84; p < .001) and lower risk for genital ulceration (OR 0.72, 95%CI: 0.62-0.84; p < .001) and gastrointestinal symptom (OR 0.65, 95%CI: 0.55-0.77; p < .001). No significant difference was observed for other organ involvement; oral ulceration, skin lesion, positive pathergy test, arthritis, epididymitis, vascular lesion, or neurological manifestation. Subgroup analyses revealed that HLA-B51 was not related to genital ulceration in the cases with an ICBD score of 6 or higher and that HLA-B51 tended to more largely affect the risk of three manifestations for men compared to that for women.Conclusion: HLA-B51 positive is a risk factor for ocular lesion and vice versa for genital ulceration and gastrointestinal symptoms in patients with Japanese BD.

DOI： 10.1080/14397595.2019.1649103

PubMed

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

Background: Clinical data of patients with entro-, vasculo-, and neuro-variant possible Behçet's disease (BD) based on Japanese criteria has not yet comprehensively reported. Methods: This ongoing nation-wide registration has been carried out by the Japanese Ministry of Health, Labour and Welfare. The Ministry asked physicians who diagnosed a patient with confirmed or possible BD to register the patient data by filling out a registration form. The Ministry provided us with the dataset after unlinkable anonymization. We analyzed 2003-2014 database generated from the early stage new cases. Results: Among the 7950 analyzable cases, 694 (8.7%) had variant-type possible BD without satisfying complete/incomplete criteria. Of the 694 patients, 479, 46, and 169 had entero-, vasculo-, and neuro-variant possible BD, respectively. Out of these 694 patients, 35 (5.0%) and 154 (22.2%) satisfied the International Study Group criteria and the International Criteria of BD, respectively. Entero-variant possible patients rarely (1.8%) had ocular lesions. Patients with vasculo-variant possible BD were featured by low genital ulceration risk (6.8%) and frequent positive HLA-B51 (60.0%). Neuro-variant possible BD was featured by high median age at registration (48 year). Vasculo- (69.6%) and neuro-variant (68.6%) BD patients showed clear male dominance. Epididymitis was very rare among variant-type possible BD men. Conclusion: We analyzed 694 early-stage variant-type possible BD cases. We believe the data from our study will contribute to further international discussion regarding BD diagnostic criteria and clarification of the clinical presentations of the Japanese variant-type possible BD patients.

DOI： 10.1080/14397595.2018.1494501

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記述言語：英語   掲載種別：研究論文（学術雑誌）  

The strongest genetic risk factor of Behçet's disease (BD) is HLA-B*51. Our group previously reported that HLA-A*26 is independently associated with the risk of the onset of BD apart from HLA-B*51. Here, we re-evaluated the association between HLA-A*26 and BD in the Japanese population. We also performed a comprehensive literature search and meta-analyzed the extracted published data concerning the relationship between HLA-A*26 and BD to estimate the odds ratio (OR) of HLA-A*26 to BD. In this study, we genotyped 611 Japanese BD patients and 2,955 unrelated ethnically matched healthy controls. Genotyping results showed that the phenotype frequency of HLA-A*26 was higher in BD patients than in controls (OR = 2.12, 95% CI: 1.75-2.56). Furthermore, within the HLA-B*51-negative populations, the phenotype frequency of HLA-A*26 was significantly higher in BD patients than in controls (OR = 3.10, 95% CI: 2.43-3.95). Results obtained from meta-analysis combined with our data showed that the modified OR of HLA-A*26 became 1.80 (95% CI:1.58-2.06), whereas within the HLA-B*51-negative population, the modified OR became 4.02 (95% CI: 2.29-7.05). A subgroup analysis arranged by the geographical regions showed HLA-A*26 is in fact associated with the onset of BD in Northeast Asia (OR = 2.11, 95% CI: 1.75-2.56), but not in the Middle East or in Europe.

DOI： 10.1038/s41598-019-40824-y

PubMed

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記述言語：日本語   出版者・発行元：(株)医学書院  

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その他リンク： https://search.jamas.or.jp/default/link?pub_year=2022&ichushi_jid=J01537&link_issn=&doc_id=20220405150022&doc_link_id=10.11477%2Fmf.1410214358&url=https%3A%2F%2Fdoi.org%2F10.11477%2Fmf.1410214358&type=%E5%8C%BB%E6%9B%B8.jp_%E3%82%AA%E3%83%BC%E3%83%AB%E3%82%A2%E3%82%AF%E3%82%BB%E3%82%B9&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00024_2.gif

記述言語：日本語   出版者・発行元：(公財)日本眼科学会  

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記述言語：日本語   出版者・発行元：(公社)神奈川県医師会  

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記述言語：日本語   出版者・発行元：(一社)日本リウマチ学会  

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