担当区分：筆頭著者   記述言語：英語   出版者・発行元：Graefe S Archive for Clinical and Experimental Ophthalmology  

Purpose: To report the clinical cases of PRESERFLO MicroShunt swelling following exposure to petrolatum-based ophthalmic ointment and to experimentally identify the cause and composition of the swollen MicroShunt. Methods: A retrospective case series and an in vitro experimental study were conducted. The clinical series included three glaucoma patients with swollen MicroShunts after ointment exposure and four patients whose explanted MicroShunts showed no swelling without ointment exposure. In vitro experiments were performed using unused MicroShunts incubated in 0.3% ofloxacin ophthalmic ointment. A time-course immersion study was conducted for 24 h at room temperature, with microscopy documenting dimensional changes. After 24 h and 3 months, swollen devices underwent quantitative analysis using proton nuclear magnetic resonance (¹H-NMR) spectroscopy to determine the relative weight composition of polystyrene-block-polyisobutylene-block-polystyrene (SIBS) and absorbed ointment. Results: All three MicroShunts exposed to ointment exhibited marked swelling, whereas those without exposure showed no swelling. In vitro, ointment-exposed devices displayed similar swelling, became friable, and fractured after 24 h. Dimensional analysis demonstrated progressive increases, with outer diameter expanding 1.44-fold and fin width 1.29-fold by 24 h. ¹H-NMR analysis showed that swollen devices consisted of approximately 55% SIBS and 45% ointment by weight after 24 h, progressing to 27% SIBS and 73% ointment after 3 months. Conclusions: Direct contact between petrolatum-based ophthalmic ointment and the SIBS-based MicroShunt induced markedly, time-dependent swelling that compromises the its structural integrity. Thus, the use of ophthalmic ointment should be avoided in patients with an exposed MicroShunt.

DOI： 10.1007/s00417-025-07075-2

Web of Science

Scopus

PubMed

researchmap

出版者・発行元：株式会社医学書院  

DOI： 10.11477/mf.037055790790110352

CiNii Research

researchmap

出版者・発行元：株式会社医学書院  

DOI： 10.11477/mf.037055790790060757

CiNii Research

researchmap

出版者・発行元：株式会社医学書院  

DOI： 10.11477/mf.037055790790050638

CiNii Research

researchmap

出版者・発行元：株式会社医学書院  

DOI： 10.11477/mf.037055790790050605

CiNii Research

researchmap

担当区分：筆頭著者   記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Translational Vision Science and Technology  

Purpose: To compare Nidek MP-3 microperimetry and ZEISS Humphrey Field Analyzer (HFA) visual field (VF) results in patients with primary open-angle glaucoma (POAG), classified by VF defect severity and to describe a novel method for simulating sensitivity distribution changes assumed to be due to fixation errors. Methods: This retrospective study used the MP-3 and HFA 10-2 tests to examine the VF in eyes with mild, moderate, or severe POAG, using 68 identical test points. Reliability indices and measurement durations were compared. The relationship between pointwise sensitivities of the devices was analyzed. Results: Thirty-five eyes from 23 patients (10 mild, 12 moderate, and 13 severe POAG) were evaluated. In the severe POAG group, the MP-3 had a significantly lower false-positive (FP) rate and higher false-negative rate than those of the HFA 10-2 (all, P = 0.03). A significant negative correlation existed between the root mean square error, derived from regression analysis comparing the VF sensitivity between devices at each test point, and VF sensitivity of the MP-3 (P < 0.01). In 18 eyes, a shift in the sensitivity distribution occurred, with a significant correlation between the HFA 10-2 mean deviation and the presence of this shift (P < 0.01). Conclusions: Reliability indices differed significantly between the two devices in severe POAG cases. A shift in the sensitivity of the test points of the two VF tests was detected in approximately one-half of the eyes. Translational Relevance: The MP-3 provides lower FP rates in advanced POAG and may assist in the management of this patient cohort.

DOI： 10.1167/tvst.14.4.6

Web of Science

Scopus

PubMed

researchmap

出版者・発行元：株式会社医学書院  

DOI： 10.11477/mf.037055790790030361

CiNii Research

researchmap

出版者・発行元：株式会社医学書院  

DOI： 10.11477/mf.037055790790030315

CiNii Research

researchmap

記述言語：英語   出版者・発行元：Retina  

Purpose: Retinal arterioles are attenuated in eyes with retinitis pigmentosa (RP), but dimensions such as lumen diameter (LD) and wall thickness (WT) have not been thoroughly investigated. This study aimed to determine the dimensions of reduced retinal arterioles in eyes with RP. Methods: The study included 66 patients with RP (66 eyes) and 36 control participants (36 eyes) for whom adaptive optics (AO) recordings of the retinal arteries were available. LD and WT were measured on the AO images. The correlations between arteriole dimensions and clinical parameters were determined. Results: The mean LD was significantly smaller in patients with RP than in controls, while the mean WT did not differ significantly. LD was significantly and positively correlated with the mean deviation (MD) of the Humphrey 10-2 field analyzer and ellipsoid zone (EZ) width. The WT and wall-to-lumen ratio were significantly and positively correlated with age and systolic blood pressure but not with MD and EZ width. Conclusion: Retinal arteriole dimensions were significantly correlated with retinal degeneration and systemic factors.

DOI： 10.1097/IAE.0000000000004333

Web of Science

Scopus

PubMed

researchmap

記述言語：英語   出版者・発行元：Japanese Journal of Ophthalmology  

Purpose: To determine whether convolutional neural networks (CNN) can classify the severity of central vision loss using fundus autofluorescence (FAF) images and color fundus images of retinitis pigmentosa (RP), and to evaluate the utility of those images for severity classification. Study design: Retrospective observational study. Methods: Medical charts of patients with RP who visited Nagoya University Hospital were reviewed. Eyes with atypical RP or previous surgery were excluded. The mild group was comprised of patients with a mean deviation value of > − 10 decibels, and the severe group of < − 20 decibels, in the Humphrey field analyzer 10-2 program. CNN models were created by transfer learning of VGG16 pretrained with ImageNet to classify patients as either mild or severe, using FAF images or color fundus images. Results: Overall, 165 patients were included in this study; 80 patients were classified into the severe and 85 into the mild group. The test data comprised 40 patients in each group, and the images of the remaining patients were used as training data, with data augmentation by rotation and flipping. The highest accuracies of the CNN models when using color fundus and FAF images were 63.75% and 87.50%, respectively. Conclusion: Using FAF images may enable the accurate assessment of central vision function in RP. FAF images may include more parameters than color fundus images that can evaluate central visual function.

DOI： 10.1007/s10384-025-01163-w

Web of Science

Scopus

PubMed

researchmap

担当区分：筆頭著者   記述言語：英語   出版者・発行元：Scientific Reports  

Measurement of anterior chamber depth (ACD), an important marker for the screening of primary angle-closure glaucoma, requires biometry, which is not readily used. This study assessed the relationship between ACD and health check-up data findings from participants with good corrected visual acuity in Japan. Participants underwent ophthalmic, anthropometric, and hematological assessments. The mean ACD of all 3060 participants was 3.33 ± 0.34 mm [2.22–4.72 mm]. Multivariable linear regression analysis was performed to determine factors that were significantly correlated with ACD, and logistic regression analysis was performed to predict ACD < 2.70 mm. Multivariable linear regression analysis showed that age, sex, intraocular pressure, spherical equivalent refractive error (SER), height, and fasting blood sugar levels significantly correlated with ACD (P < 0.05). Logistic regression analysis showed that age, sex, and SER were the best predictors of ACD < 2.70 mm. The area under receiving operator characteristic curves of ‘age and SER’ and ‘age, SER, and sex’ were 0.821 and 0.835, respectively, with no significant difference (P = 0.122). In conclusion, ACD correlates with several parameters, and age and SER may be particularly important for predicting ACD in participants undergoing health checkups.

DOI： 10.1038/s41598-024-82096-1

Web of Science

Scopus

PubMed

researchmap

記述言語：英語   出版者・発行元：Scientific Reports  

The phenotypes of RP1-related inherited retinal dystrophies (RP1-IRD), causing autosomal dominant (AD) and autosomal recessive (AR) diseases, vary depending on specific RP1 variants. A common nonsense mutation near the C-terminus, c.5797 C > T (p.Arg1933*), is associated with RP1-IRD, but the exact role of this mutation in genotype-phenotype correlation remains unclear. In this study, we retrospectively analyzed patients with RP1-IRD (N = 42) from a single center in Japan. AR RP1-IRD patients with the c.5797 C > T mutation (N = 14) mostly displayed macular dystrophy but rarely retinitis pigmentosa or cone-rod dystrophy. Conversely, AR RP1-IRD patients without the c.5797 C > T mutation, including those with other pathogenic RP1 variants, were mostly diagnosed with severe retinitis pigmentosa. Full-field electroretinograms were significantly better in patients homozygous or compound heterozygous for the c.5797 C > T mutation than in those without this mutation, corresponding to their milder phenotypes. Clinical tests also revealed a slower onset of age and a better mean deviation value with the static visual field in AR RP1-IRD patients with the c.5797 C > T mutation compared to those without. Therefore, the presence of c.5797 C > T may partly account for the phenotypic variety of RP1-IRD and may yield milder phenotypes. These findings may be useful for predicting the prognosis of RP1-IRD patients.

DOI： 10.1038/s41598-024-77441-3

Web of Science

Scopus

PubMed

researchmap

担当区分：筆頭著者   記述言語：英語   出版者・発行元：Retina  

Purpose:To ascertain the characteristics of achromatopsia (ACHM) in Japan by analyzing the genetic and phenotypic features of patients with ACHM.Methods:The medical records of 52 patients from 47 Japanese families who were clinically diagnosed with ACHM were reviewed in this retrospective observational study.Results:Thirty-six causative variants of ACHM were identified in 26 families via whole-exome sequencing: PDE6C (12 families), CNGA3 (10 families), CNGB3 (two families), and GNAT2 (two families). However, none of the 6 causative variants that are known to cause ACHM, or the 275 other genes listed in RetNet, were observed in 19 families. A significant trend toward older age and worsening of ellipsoid zone disruption on optical coherence tomography images was observed (P < 0.01). Progressive ellipsoid zone disruptions were observed in 13 eyes of seven patients during the follow-up visits. These patients harbored one or more variants in PDE6C.Conclusion:The ACHM phenotype observed in this study was similar to those observed in previous reports; however, the causative gene variants differed from those in Europe. The low identification ratio of causative genes in whole-exome sequencing suggests the presence of unique hotspots in Japanese patients with ACHM that were not detectable via ordinal whole-exome sequencing.

DOI： 10.1097/IAE.0000000000004170

Web of Science

Scopus

PubMed

researchmap

出版者・発行元：金原出版  

DOI： 10.18888/ga.0000003731

CiNii Research

researchmap

出版者・発行元：株式会社医学書院  

DOI： 10.11477/mf.1410215196

CiNii Research

researchmap

出版者・発行元：株式会社医学書院  

DOI： 10.11477/mf.1410215179

CiNii Research

researchmap

記述言語：英語   出版者・発行元：Genetics in Medicine Open  

Purpose: Achromatopsia (ACHM) is an early-onset cone dysfunction caused by 5 genes with cone-specific functions (CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H) and by ATF6, a transcription factor with ubiquitous expression. To improve the relatively low variant detection ratio in these genes in a cohort of exome-sequenced Japanese patients with inherited retinal diseases (IRD), we performed genome sequencing to detect structural variants and intronic variants in patients with ACHM. Methods: Genome sequencing of 10 ACHM pedigrees was performed after exome sequencing. Structural, non-coding, and coding variants were filtered based on segregation between the affected and unaffected in each pedigree. Variant frequency and predicted damage scores were considered in identifying pathogenic variants. Results: A homozygous deletion involving exon 18 of RPGRIP1 was detected in 5 of 10 ACHM probands, and variant inheritance from each parent was confirmed. This deletion was relatively frequent (minor allele frequency = 0.0023) in the Japanese population but was only homozygous in patients with ACHM among the 199 Japanese IRD probands analyzed by the same genome sequencing pipeline. Conclusion: The deletion involving exon 18 of RPGRIP1 is a prevalent cause of ACHM in Japanese patients and contributes to the wide spectrum of RPGRIP1-associated IRD phenotypes, from Leber congenital amaurosis to ACHM.

DOI： 10.1016/j.gimo.2024.101843

Scopus

PubMed

DOI： 10.1371/journal.pone.0284686

Open Access

DOI： 10.1097/IAE.0000000000003589

Open Access

DOI： 10.3390/app12146872

Open Access