Japanese Journal of Ophthalmology最新文献

{"title":"Impact of prolonged digital device use on acquired comitant esotropia: ACE-DD study 2.","authors":"Hirohito Iimori, Noriko Nishikawa, Sachiko Nishina, Tomoyo Yoshida, Takafumi Mori, Osamu Hieda, Akiko Hikoya, Miwa Komori, Shion Hayashi, Takashi Negishi, Toshiaki Goseki, Yoshiko Sugiyama, Akiko Kimura, Takeshi Morimoto, Yukiko Shimizu, Tamami Shimizu, Yoshimi Yokoyama, Hiroko Suzuki, Sadao Suzuki, Noriyuki Azuma, Miho Sato","doi":"10.1007/s10384-025-01171-w","DOIUrl":"10.1007/s10384-025-01171-w","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate changes in strabismus angles in children and young adult patients with recent onset of constant acquired comitant esotropia (ACE) following instructions on hand-held digital devices (DD).</p><p><strong>Study design: </strong>Prospective multicenter non-randomized interventional study.</p><p><strong>Methods: </strong>This study included subjects aged 5-35 years who developed ACE within 1 year. Subjects were divided into two groups: (i) subjects who used DD for an average of ≥120 minutes/day for junior high-school students and older and ≥60 minutes/day for primary-school students and younger (DD+); and (ii) subjects who used DD for less than that (DD-) based on the questionnaire at the study's start. During the initial visit, glasses were prescribed when necessary; verbal instructions on DD use including time reduction and viewing-distance elongation were provided. For each group, strabismus angles at the initial visit and at 3 months were compared. Cure was defined as esophoria within 8 prism diopters without symptoms.</p><p><strong>Results: </strong>In total, 181 cases were investigated. At baseline, strabismus angles in DD+ and DD- groups were 23±14 PD and 25±15 PD at near and 25±13 PD and 27±14 PD at distance, respectively. At 3 months, they were 22±16 PD and 25±15 PD at near and 23±14 PD and 27±13 PD at distance, respectively. Only in the DD+ group, reduction in strabismus angle was observed, but this was not clinically significant. Ten and 1 subjects in DD+ and DD- groups were cured.</p><p><strong>Conclusion: </strong>Although changes in strabismus angles were not large enough, DD use instructions were beneficial for some ACE subjects.</p>","PeriodicalId":14563,"journal":{"name":"Japanese Journal of Ophthalmology","volume":" ","pages":"166-173"},"PeriodicalIF":2.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12003580/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Classification of fundus autofluorescence images based on macular function in retinitis pigmentosa using convolutional neural networks.","authors":"Taro Kominami, Shinji Ueno, Junya Ota, Taiga Inooka, Masahiro Oda, Kensaku Mori, Koji M Nishiguchi","doi":"10.1007/s10384-025-01163-w","DOIUrl":"10.1007/s10384-025-01163-w","url":null,"abstract":"<p><strong>Purpose: </strong>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.</p><p><strong>Study design: </strong>Retrospective observational study.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":14563,"journal":{"name":"Japanese Journal of Ophthalmology","volume":" ","pages":"236-244"},"PeriodicalIF":2.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12003438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143399214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of ethylenediaminetetraacetic acid chelation for calcific band keratopathy on corneal topography assessed by fourier harmonic analysis.","authors":"Shoko Saito, Yumi Kusumi, Yoji Takano, Masaki Fukui, Masakazu Yamada","doi":"10.1007/s10384-025-01160-z","DOIUrl":"10.1007/s10384-025-01160-z","url":null,"abstract":"<p><strong>Purpose: </strong>Chemical chelation with ethylenediaminetetraacetic acid (EDTA) is an established treatment for calcific band keratopathy (CBK), whereas removal of calcium deposits from the subepithelial layer of the cornea may cause corneal irregularity. Using Fourier harmonic analysis, we analyzed the corneal topography in eyes with CBK treated by EDTA chelation.</p><p><strong>Study design: </strong>Retrospective, single-center study.</p><p><strong>Methods: </strong>This study included 42 eyes of 26 patients who underwent chemical chelation using EDTA for CBK at the Kyorin University Hospital. Clinical data included age, sex, refraction, visual acuity, operation records, and corneal topography. Corneal topography was evaluated by a TMS-5 Corneal Topographer, and 3.0- and 6.0-mm-diameter Fourier series harmonic analyses were performed. Refraction, visual acuity, and parameters of corneal topography were compared before surgery and at 1 and 4 weeks postoperatively.</p><p><strong>Results: </strong>Visual acuity and refraction (spherical equivalent and astigmatism) did not significantly change at 4 weeks postoperatively. Fourier harmonic analysis revealed that there were no time serial changes in the spherical component and regular astigmatism in both 3.0- and 6.0-mm analyses. Asymmetry astigmatism, and high-order irregularity significantly increased at 1 week postoperatively but decreased at 4 weeks postoperatively, with no statistical differences compared with preoperative data.</p><p><strong>Conclusion: </strong>The effects of EDTA treatment on the corneal shape and refraction are minimal, which is beneficial for maintaining visual function in patients with CBK.</p>","PeriodicalId":14563,"journal":{"name":"Japanese Journal of Ophthalmology","volume":" ","pages":"182-187"},"PeriodicalIF":2.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143023020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Demographics, clinical features and prognosis of patients with primary malignant conjunctival tumors at a tertiary hospital in Japan.","authors":"Hiroshi Goto, Masaki Asakage, Erina Niidime, Naoyuki Yamakawa, Hiroyuki Komatsu, Kinya Tsubota, Kazuhiko Umazume, Yoshihiko Usui, Hideki Mori","doi":"10.1007/s10384-025-01165-8","DOIUrl":"10.1007/s10384-025-01165-8","url":null,"abstract":"<p><strong>Purpose: </strong>To clarify the demographic characteristics, clinical features and prognosis of patients with primary malignant conjunctival tumors diagnosed at a single tertiary hospital in Japan.</p><p><strong>Study design: </strong>Retrospective, observational case series.</p><p><strong>Methods: </strong>Patients with malignant conjunctival tumors diagnosed histopathologically at Tokyo Medical University Hospital between 2010 and 2022 were retrospectively reviewed. The demographic profile, clinical features and treatment outcomes were analyzed.</p><p><strong>Results: </strong>A total of 359 patients with histopathologically proven malignant conjunctival tumors were included. All patients were Japanese. The most common malignant conjunctival tumor was lymphoma (n = 197, 54.9%), followed by squamous cell carcinoma (SCC) (n = 97, 27.0%), melanoma (n = 60, 16.7%), and others (n = 5, 1.4%). The mean age of patients at the time of diagnosis was 60.5 ± 17.4 years for lymphoma, 60.2 ± 15.8 years for SCC, and 65.8 ± 15.7 years for melanoma. Among 197 patients with lymphoma, 89.3% had extranodal marginal zone lymphoma (EMZL). Lymphomas were treated with external beam radiation therapy in 52.8%, surgical resection with or without cryopexy in 40.1%, and systemic chemotherapy in 4.0%. During an observation period of more than 12 months, recurrence was observed in 8.4% and extraocular lymphoma occurred in 1.7%. In SCC and melanoma, common surgical resection with sufficient safety margin, cryopexy, and application of 0.04% mitomycin C were performed as eye-preserving therapy. Orbital exenteration was performed in advanced cases. Recurrence rates and regional lymph node metastasis rates during an observation period of more than 12 months were, respectively, 30.1% and 6.2% in SCC. Recurrence rates and regional lymph node or distant organ metastasis rates during an observation period of more than 24 months for melanoma were 29% for both. Tumor-related mortality was 16% in melanoma, but 0% in lymphoma and SCC.</p><p><strong>Conclusions: </strong>Lymphoma was the major malignant conjunctival tumor in a Japanese ophthalmology referral center, which may reflect a unique epidemiological trend in Japan compared to Western countries. The prognosis of lymphoma and SCC after appropriate treatment was favorable, except for some cases of advanced SCC.</p>","PeriodicalId":14563,"journal":{"name":"Japanese Journal of Ophthalmology","volume":" ","pages":"316-325"},"PeriodicalIF":2.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12003589/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative study of retinal ganglion cell complex thinning by visual field patterns following post-geniculate lesions.","authors":"Toshio Kurokawa, Rumi Kobayashi, Naoko Ueda, Takekazu Ohi","doi":"10.1007/s10384-025-01174-7","DOIUrl":"10.1007/s10384-025-01174-7","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the relationship between retinal ganglion cell complex (GCC) thinning following post-geniculate lesions and the time elapsed since cerebrovascular disorder (CVD) onset.</p><p><strong>Study design: </strong>Retrospective study.</p><p><strong>Methods: </strong>Forty-seven patients with hemianopic visual field defects (VFD) due to post-geniculate lesions were retrospectively enrolled from our clinical optical coherence tomography (OCT) database. GCC thickness was measured using spectral-domain OCT, with a 6 mm circle centered on the fovea divided into hemianopic and unaffected sides. The decline rate (DR) was calculated as the percentage reduction in GCC thickness on the hemianopic side relative to the unaffected side.</p><p><strong>Results: </strong>Patients were grouped based on VFD patterns: complete homonymous hemianopia (A), homonymous hemianopia with macular sparing (B), homonymous scotomatous defects (C), superior quadrantanopia (D), and inferior quadrantanopia (E). A positive correlation (r = 0.581, p < 0.001) was found between the time elapsed since CVD onset and DR. More than 5% DR was observed in 29 of 47 cases (61.7%). Significant differences were noted between group A (specifically, the temporal lobe lesion) and group B (p = 0.0183), as well as between group A and group C (p = 0.0378).</p><p><strong>Conclusion: </strong>A significant correlation was observed between DR and the time elapsed. Several factors, such as lesion location, type, size, and the involvement of gray or white matter, influence retrograde trans-synaptic degeneration (RTSD). Our findings suggest that RTSD is influenced by the distance from the lateral geniculate nucleus (LGN).</p>","PeriodicalId":14563,"journal":{"name":"Japanese Journal of Ophthalmology","volume":" ","pages":"268-278"},"PeriodicalIF":2.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143811469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of intraocular pressure changes in Japanese patients with neovascular age-related macular degeneration treated with aflibercept or faricimab.","authors":"Junichiro Honjo, Ryo Mukai, Kanako Itagaki, Keiichiro Tanaka, Koki Norikawa, Yutaka Kato, Akihito Kasai, Yukinori Sugano, Tetsuju Sekiryu","doi":"10.1007/s10384-024-01155-2","DOIUrl":"10.1007/s10384-024-01155-2","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the short-term changes in intraocular pressure (IOP) following intravitreal injections of aflibercept or faricimab in Japanese patients with neovascular age-related macular degeneration (nAMD).</p><p><strong>Study design: </strong>Retrospective observational study.</p><p><strong>Methods: </strong>This retrospective observational study included 161 eyes from 160 Japanese patients diagnosed with nAMD. Of these, 127 eyes (127 patients) were treated with 2 mg/0.05 mL aflibercept, and 34 eyes (33 patients) received 6 mg/0.05 mL faricimab. Each group underwent three consecutive monthly injections. The IOP in each treated eye was measured using non-contact tonometry at each visit over a 3-month period following the initial injection.</p><p><strong>Results: </strong>The mean baseline IOP in the aflibercept group was 14.4 ± 2.8 mmHg, decreasing to 13.2 ± 3.0 mmHg after 3 months (P < 0.001), whereas the mean baseline IOP in the faricimab group was 13.8 ± 2.1 mmHg, with a change to 13.5 ± 1.5 mmHg after 3 months (P = 0.1873).</p><p><strong>Conclusion: </strong>The loading phase treatment with aflibercept resulted in a decrease in IOP. Faricimab showed a similar trend, there was no significant difference between the two treatments.</p>","PeriodicalId":14563,"journal":{"name":"Japanese Journal of Ophthalmology","volume":" ","pages":"230-235"},"PeriodicalIF":2.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143615611","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictive value of enhanced corneal biomechanical parameters for ectasia progression.","authors":"Shizuka Koh, Renato Ambrósio, Ryota Inoue, Michael W Belin, Naoyuki Maeda, Kohji Nishida","doi":"10.1007/s10384-024-01149-0","DOIUrl":"10.1007/s10384-024-01149-0","url":null,"abstract":"<p><strong>Purpose: </strong>To determine whether corneal biomechanical parameters can predict ectasia progression.</p><p><strong>Study design: </strong>Retrospective observational study.</p><p><strong>Methods: </strong>The baseline corneal biomechanical parameters of 64 eyes of 41 young patients (age, < 25 years at the first visit) who were diagnosed with keratoconus (KC) or suspected KC at Osaka University Hospital and followed up for more than two years were reviewed. Suspected KC was defined as borderline cases with no definitive clinical or topographical abnormalities in both eyes. The eyes were divided into progressed (P) and non-progressed (NP) groups using the ABCD grading system of Scheimpflug-based tomography. The Scheimpflug-based corneal biomechanical parameters evaluated included deformation amplitude ratio within 2 mm, integrated radius, Ambrósio relational thickness to the horizontal profile, stiffness parameter at the first applanation, stress-strain index, E-staging, and Corvis Biomechanical Index. The optimized tomographic/biomechanical index (TBIv2), Belin/Ambrósio Enhanced Ectasia Deviation (BAD-D), and inferior-superior axial steepening values from Scheimpflug-based tomography were also evaluated.</p><p><strong>Results: </strong>Twenty-three and 41 eyes were categorized into the P and NP groups, respectively. Logistic regression analysis showed that age, BAD-D, and TBIv2 could predict ectasia progression. The specificity, sensitivity, and area under the receiver operating characteristic curve (AUROC) values for BAD-D combined with age were 0.82, 0.60, and 0.83, respectively, whereas those for TBIv2 combined with age were 0.65, 0.82, and 0.82, respectively.</p><p><strong>Conclusions: </strong>Baseline TBIv2 is a potentially useful predictive marker for ectasia progression in young patients, whereas baseline BAD-D could be used for establishing a definitive diagnosis.</p>","PeriodicalId":14563,"journal":{"name":"Japanese Journal of Ophthalmology","volume":" ","pages":"174-181"},"PeriodicalIF":2.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12003495/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143005462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corneal Fourier harmonic analysis in prostaglandin-associated periorbitopathy patients with blepharoptosis.","authors":"Tatsuya Yunoki, Yuto Uozumi, Naoki Tojo, Mitsuya Otsuka, Atsushi Hayashi","doi":"10.1007/s10384-025-01177-4","DOIUrl":"https://doi.org/10.1007/s10384-025-01177-4","url":null,"abstract":"<p><strong>Purpose: </strong>Prostaglandin-associated periorbitopathy (PAP), which causes skin hardening, ptosis, and deepening of the upper eyelid sulcus (DUES), has been suggested to affect corneal shape due to increased eyelid pressure. In this study, we performed a corneal shape analysis using anterior segment optical coherence tomography (AS-OCT) in patients with PAP accompanied by blepharoptosis.</p><p><strong>Study design: </strong>Retrospective study.</p><p><strong>Methods: </strong>Fourier harmonic corneal shape analysis using anterior segment OCT was performed in patients with a margin reflex distance-1 (MRD-1) of 2 mm or less (176 eyes of 101 cases). Cases with congenital ptosis, neurogenic ptosis, facial nerve palsy, thyroid eye disease, history of eyelid surgery, vitrectomy, glaucoma tube shunt surgery or filtration surgery were excluded. Patients were divided into two groups based on the presence or absence of prostaglandin analog (PGA) eye drops, and a comparative analysis was conducted.</p><p><strong>Results: </strong>In the comparison between the PGAs group (n=47) and the non-PGAs group (n=129), no significant differences were observed in age, gender, MRD-1, or levator function. However, the PGAs group exhibited significantly larger values for both regular and irregular astigmatism. Additionally, in the PGAs group, when the severity of PAP was classified (grades 0 to 3), there was a correlation between PAP grade and both regular and irregular astigmatism.</p><p><strong>Conclusion: </strong>Patients with PAP who developed ptosis exhibited significant increases in both regular and irregular astigmatism, with a correlation observed between PAP grade and astigmatism. It is suggested that the increased eyelid pressure due to PAP may influence corneal shape.</p>","PeriodicalId":14563,"journal":{"name":"Japanese Journal of Ophthalmology","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523489","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retinal displacement using optical coherence tomography angiography and metamorphopsia in eyes undergoing macular hole surgery.","authors":"Shun Tsukahara, Asuka Takeyama, Masahiro Ishida","doi":"10.1007/s10384-025-01176-5","DOIUrl":"https://doi.org/10.1007/s10384-025-01176-5","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the relationship between metamorphopsia and retinal structural changes using optical coherence tomography angiography (OCTA) images before and after macular hole (MH) surgery.</p><p><strong>Study design: </strong>Retrospective, consecutive, case series.</p><p><strong>Methods: </strong>Twenty-seven eyes of 27 patients undergoing MH surgery with internal limiting membrane peeling were studied. M-CHARTS (MC) was used to evaluate metamorphopsia. Retinal distances were measured between two sets of retinal vessel bifurcations that cross the macula vertically and horizontally near and distal to the macula using OCTA 3x3 mm en face images. The rate of change in retinal distance was defined as retinal displacement%. Basal and minimum MH diameters and retinal thicknesses were measured using Spectralis.</p><p><strong>Results: </strong>The vertical and horizontal MC scores improved postoperatively (P<0.001). The retinal distance decreased in all periods (P<0.001), and retinal displacements% was greater near than distal to the center of the macula (P<0.001). Retinal displacement% was correlated with basal MH diameter (r_s=-0.419 to -0.280, P<0.001 to 0.045). The horizontal MH diameter was a significant factor related to vertical MC score at baseline and 6 months postoperatively (P value range: P=0.002-0.004). The rates of change in outer retinal thickness and retinal displacement% near the center of the macula were significant factors related to horizontal MC scores at 6 months (P<0.001).</p><p><strong>Conclusion: </strong>Retinal displacement near the macular region contributes to MH closure after surgery. The larger the MH diameter, the greater the retinal displacement near the macula and the degree of residual postoperative metamorphopsia.</p>","PeriodicalId":14563,"journal":{"name":"Japanese Journal of Ophthalmology","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification and structural analysis of pathogenic variants in MYOC and CYP1B1 genes in Indian JOAG patients.","authors":"Manoj Yadav, Mukesh Kumar, Chand Singh Dhull, Sumit Sachdeva, Aarti Bhardwaj, Anshu Yadav, Vishal Panghal, Pradeep Sharma, Ankit Kumari, Ritu Yadav, Mayank Singh, Rakesh Kumar, Anupama Deora, Manisha Rathi, Punit Kaur, Mukesh Tanwar","doi":"10.1007/s10384-025-01173-8","DOIUrl":"https://doi.org/10.1007/s10384-025-01173-8","url":null,"abstract":"<p><strong>Purpose: </strong>Juvenile onset open-angle glaucoma (JOAG) manifests in individuals under the age of 40, resulting in elevated intraocular pressure and significant optic nerve damage. To broaden the spectrum of mutations associated with JOAG and to determine their specific structural implications, we examined Myocilin and Cytochrome P450 1B1 gene in a cohort of 111 unrelated North Indian patients diagnosed with JOAG.</p><p><strong>Study design: </strong>A clinical and experimental study.</p><p><strong>Methods: </strong>PCR-DNA sequencing screened the coding exons and intron-exon junctions of the MYOC and CYP1B1 genes in 111 unrelated JOAG patients and 100 controls. Identified sequence variations were searched in the ClinVar database, HGMD, and dbSNP. Six different online available algorithms including rare exome variant ensemble learner (REVEL), Sorting Intolerant From Tolerant (SIFT), Mutation Taster, SNAP2, IMutant2.0, and MutPred2 were used for the pathogenicity prediction of missense variations. The Structural consequences of detected possible pathogenic variations were predicted by using PyMol, Chimera and MD simulation of these changes.</p><p><strong>Results: </strong>Potentially-pathogenic variations were observed in thirty patients (27.02%) within the MYOC and CYP1B1 genes, encompassing both novel and previously documented variants. Structural predictions of novel potentially-pathogenic mutations indicate altered stability and flexibility.</p><p><strong>Conclusion: </strong>Analysis reveals a higher prevalence of CYP1B1 gene variants (22.5%) relative to MYOC gene variants (4.5%), suggesting that CYP1B1 is the predominant gene implicated in JOAG among Indian patients. Our findings enhance the understanding of mutation spectra and frequencies of MYOC and CYP1B1gene in JOAG among the North Indian population. Structural predictions of novel pathogenic mutations could enhance the understanding of JOAG pathogenesis and support subsequent functional analysis.</p>","PeriodicalId":14563,"journal":{"name":"Japanese Journal of Ophthalmology","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}