Japanese Journal of Ophthalmology最新文献

{"title":"Identification of risk factors for persistent corneal edema associated with acute corneal hydrops in keratoconus.","authors":"Takaaki Aichi, Koji Kitazawa, Renako Kozaki, Yohei Yamashita, Motohiro Itoi, Kengo Yoshii, Keiko Yamagishi, Hisayo Higashihara, Mari Osawa, Yoko Hyakutake, Hideki Koizumi, Chie Sotozono","doi":"10.1007/s10384-025-01193-4","DOIUrl":"10.1007/s10384-025-01193-4","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of this study was to investigate the clinical characteristics of acute corneal hydrops (ACH) in patients with keratoconus and to examine the risk factors for persistent corneal edema.</p><p><strong>Study design: </strong>Retrospective observational study.</p><p><strong>Methods: </strong>The study included 98 patients (106 eyes) diagnosed with ACH between February 2009 and August 2023 at Kyoto Prefectural University of Medicine. Seventy-seven eyes with clear data on both onset and resolution were analyzed for the risk factors for persistent corneal edema. Clinical characteristics, duration of corneal edema, and associated risk factors such as seasonal variations, edema area, allergic diseases, eye rubbing, and neurodevelopmental disorders (including Down syndrome) were collected and analyzed.</p><p><strong>Results: </strong>The study included 90 male (91.8%) and 8 female (8.2%) patients. The mean (SD) age at ACH onset was 33.3 (13.8) years (range, 14-80). ACH occurred most prevalently during the spring season (n = 39, 36.8%). Allergic diseases were present in 59 eyes (55.7%); eye rubbing, in 58 eyes (54.7%); and neurodevelopmental disorders, in 9 eyes (8.5%). Corneal edema resolved within 3 months in 55 eyes (71.4%), whereas it persisted for over 3 months in 22 eyes (28.6%). Multivariate analysis showed that a large edema area, ≥50%, was a significant risk factor for persistent corneal edema of more than 3 months in ACH patients (odds ratio, 7.41; 95% CI, 1.95-33.02; P = .005).</p><p><strong>Conclusion: </strong>Large corneal edema at ACH onset carries a high risk of persistent corneal edema. These patients should be managed more carefully to resolve the corneal edema earlier.</p>","PeriodicalId":14563,"journal":{"name":"Japanese Journal of Ophthalmology","volume":" ","pages":"365-370"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143996206","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":"Assessment of punctal metrics and tear meniscus height in epiphora: clinical insights and diagnostic potential.","authors":"Neslihan Sevimli, Ece İren, Güneş Taydaş, Muhammed Kaan Azarbaz","doi":"10.1007/s10384-025-01182-7","DOIUrl":"10.1007/s10384-025-01182-7","url":null,"abstract":"<p><strong>Purpose: </strong>To use anterior segment optical coherence tomography (AS-OCT) to investigate differences in punctal dimensions, tear meniscus height (TMH), and cornea among epiphora patients and healthy individuals; to assess its utility in screening and diagnosing epiphora; and to examine its effects on the cornea.</p><p><strong>Study design: </strong>Prospective, cross-sectional METHODS: A total of 43 patients (31 women) with epiphora (Munk score >2) and 58 healthy individuals (38 women) without ocular symptoms were enrolled in this study. AS-OCT (Maestro, Topcon) was used to measure TMH, outer punctal diameter (OPD), punctal depth (PD), and corneal epithelial thickness (CET). Corneal topography (Pentacam, Oculus) was used to assess corneal topographic parameters and corneal volume (CV). Correlations among OPD, TMH, and corneal parameters were analyzed.</p><p><strong>Results: </strong>No significant differences were found in age and sex among the groups (P = .909 and P = .482, respectively). Patients with epiphora exhibited significantly narrower OPD (229.6 ± 150.1 μm) and higher TMH (592.5 ± 315.3 μm) (both P <.001). CV was notably lower in the epiphora group (P = .015). The lower cutoff of OPD for epiphora was found to be 200 μm, and the lower cutoff of TMH for epiphora, 445 μm. Positive correlations were observed between OPD and CV (P = .001).</p><p><strong>Conclusions: </strong>Patients with epiphora demonstrated narrower OPD, higher TMH, and lower CV than those of healthy individuals. These findings highlight the utility of AS-OCT in assessing epiphora and its effects on corneal health.</p>","PeriodicalId":14563,"journal":{"name":"Japanese Journal of Ophthalmology","volume":" ","pages":"351-359"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143582252","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":"Stereopsis outcome in refractive accommodative esotropia successfully aligned by full hypermetropic correction.","authors":"Teiji Yagasaki, Yoshimi Yokoyama, Ayaka Yagasaki, Kenta Hozumi","doi":"10.1007/s10384-025-01181-8","DOIUrl":"10.1007/s10384-025-01181-8","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate factors associated with stereopsis outcomes in refractive accommodative esotropia (RAET) successfully aligned by full hypermetropic correction.</p><p><strong>Study design: </strong>Retrospective.</p><p><strong>Methods: </strong>In 171 patients with RAET, ages at onset, initial visit, and first use of glasses, duration of misalignment, cycloplegic refraction, and ocular deviation were compared between groups based on stereopsis outcome: Group F, fine stereopsis ≤60\"; Group C, coarse stereopsis >60\" but ≤3000\"; and Group N, nil stereopsis.</p><p><strong>Results: </strong>Groups F, C and N comprised 37, 82 and 52 patients, respectively. Although no differences in initial cycloplegic refraction or duration of misalignment were seen between groups, earlier ages at onset, initial visit, and first use of glasses were associated with stereopsis outcome. Final near deviation with glasses also affected fine stereopsis outcome. Groups F, C and N among the 68 patients with onset at >2 years comprised 29, 39, and 0 patients, respectively. In contrast, the 58 patients with onset at ≤1 year and the 45 patients with onset at >1 but ≤2 years showed significantly worse incidences (Groups F, C and N: 5, 18 and 35 patients and 3, 25 and 17 patients, respectively; p<0.001 each, chi-squared test). In the 103 patients with onset ≤2 years, duration of misalignment ≤4 months was associated with significantly better stereopsis outcome than duration of misalignment >4 months (68% vs 42%, p=0.032; Fisher's exact test).</p><p><strong>Conclusions: </strong>The most important factor associated with stereopsis outcome was earlier age at onset, with the worst outcome for children with age at onset ≤1 year.</p>","PeriodicalId":14563,"journal":{"name":"Japanese Journal of Ophthalmology","volume":" ","pages":"335-342"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12125039/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144003072","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":"Two-year treatment outcomes after anti-vascular endothelial growth factor therapy in age-related macular degeneration with type 2 macular neovascularization in Japanese patients.","authors":"Yosuke Fukuda, Satomi Shiose, Shoji Notomi, Yusuke Maehara, Kenichiro Mori, Sawako Hashimoto, Kumiko Kano, Keijiro Ishikawa, Koh-Hei Sonoda","doi":"10.1007/s10384-025-01178-3","DOIUrl":"10.1007/s10384-025-01178-3","url":null,"abstract":"<p><strong>Purpose: </strong>Neovascular age-related macular degeneration (nAMD) with type 2 macular neovascularization (MNV) has a relatively good responsiveness to anti-vascular endothelial growth factor (anti-VEGF) therapy compared to type 1 MNV. This study aimed to analyze the treatment outcomes of nAMD patients with type 2 MNV and identify factors associated with fluid recurrence.</p><p><strong>Study design: </strong>Retrospective observational study.</p><p><strong>Methods: </strong>This study included treatment-naïve nAMD patients with type 2 MNV but without type 1 MNV, who received 3-monthly anti-VEGF injections as the loading phase and were followed up for over 2 years. The treatment outcomes were compared between proactive (PA) and reactive regimen (RA) groups. In addition, we investigated the factors associated with fluid recurrence in the RA group.</p><p><strong>Results: </strong>This retrospective study included 65 eyes from 65 patients. Best-corrected visual acuity (BCVA) and central macular thickness significantly improved in both the PA and RA groups. Although there was no significant difference between the two groups, the RA group showed a trend towards better BCVA. The presence of fluid three or four months after the initial injection was associated with fluid recurrence in the RA group (p = 0.02).</p><p><strong>Conclusion: </strong>For nAMD patients with type 2 MNV, a proactive regimen is generally preferred. However, for nAMD patients with type 2 MNV achieving fluid resolution after the loading phase, it may be possible to maintain BCVA and reduce the number of anti-VEGF injections by following a reactive regimen.</p>","PeriodicalId":14563,"journal":{"name":"Japanese Journal of Ophthalmology","volume":" ","pages":"371-377"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648617","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":"Evaluation of changes in retinal light sensitivity thresholds in the early postoperative days after trabeculectomy using microperimetry.","authors":"Takeshi Yoshida, Sho Ogawa, Takayuki Miki, Yuiko Kodera, Gen Shimizu, Sota Yoshimoto, Keigo Sugisawa, Motohisa Ohno, Shintaro Yasuda, Yuto Shiotani, Kyoko Ohno-Matsui","doi":"10.1007/s10384-025-01186-3","DOIUrl":"10.1007/s10384-025-01186-3","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate early postoperative changes in retinal light sensitivity at the foveal and paramacular points in open angle glaucoma patients.</p><p><strong>Study design: </strong>Retrospective cohort study.</p><p><strong>Methods: </strong>Twenty-four eyes undergoing trabeculectomy were analyzed. Retinal light sensitivity thresholds were measured using microperimetry both before and 7 days after surgery. Linear regression analysis identified factors affecting postoperative sensitivity changes. We also evaluated the correlation between changes in the threshold of retinal light sensitivity at the foveal and paramacular points.</p><p><strong>Results: </strong>Intraocular pressure significantly decreased postoperatively. The mean threshold values of retinal light sensitivity following surgery showed no statistically significant changes compared with preoperative values across all eyes. Specifically, the mean threshold values increased in 4 eyes, decreased in 2, and remained stable in 18. Upon analyzing each examination point, 71.8% eyes exhibited stability, 12.8% showed a decrease of less than -6 dB, and 15.4% demonstrated an improvement of more than +6 dB in threshold values of retinal light sensitivity post-surgery. Changes in retinal light sensitivity at most paramacular points were found to be independent of those at the fovea. Excessive IOP reduction was identified as a significant risk factor for central visual field impairment.</p><p><strong>Conclusions: </strong>Localized changes in retinal light sensitivity thresholds can vary in the early postoperative period following trabeculectomy, highlighting the need to monitor localized retinal function to better understand its impact on visual outcomes.</p>","PeriodicalId":14563,"journal":{"name":"Japanese Journal of Ophthalmology","volume":" ","pages":"432-441"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144008705","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":"Study protocol for a prospective natural history registry investigating the relationships between inflammatory markers and disease progression in retinitis pigmentosa: the RP-PRIMARY study.","authors":"Yusuke Murakami, Takahiro Hisai, Sakurako Shimokawa, Masatoshi Fukushima, Kohta Fujiwara, Akie Hirata, Atsushi Takada, Fuyuka Miyahara, Naoki Nakashima, Yuko Kobayakawa, Mitsuru Arima, Go Mawatari, Masataka Ishizu, Tomoko Kaida, Kazunori Miyata, Yasuhiro Ikeda, Koh-Hei Sonoda","doi":"10.1007/s10384-025-01179-2","DOIUrl":"10.1007/s10384-025-01179-2","url":null,"abstract":"<p><strong>Purpose: </strong>The Retinitis Pigmentosa Progression and Inflammatory Marker Registry (RP-PRIMARY) is intended as a prospective observational study aimed at establishing sensitive outcome measures to detect the efficacy of anti-inflammatory agents in future clinical trials. The following is the RP-PRIMARY study protocol.</p><p><strong>Study design: </strong>Prospective, multicenter study.</p><p><strong>Methods: </strong>We will recruit 100 patients with typical RP (any genetic mutation) and the following characteristics: age 20-70 years; mean retinal sensitivity ≥ 10 dB at 12 central points on Humphrey 10-2 visual field tests; central foveal thickness ≤ 250 μm on optical coherence tomography (OCT); and no ocular complications unrelated to RP or serious systemic complications. Early Treatment Diabetic Retinopathy Study (ETDRS). visual acuity, Humphrey 10-2 visual field tests, OCT, and fundus autofluorescence imaging will be performed every 3 months for 2 years. Inflammatory indices such as aqueous flare values, high-sensitivity C-reactive protein (CRP), serum IL-8, and CD14/16 inflammatory monocyte proportion will be measured every year. The primary endpoint will be the progression rate of retinal sensitivity loss on the Humphrey 10-2 visual field tests. The secondary endpoints will be the rate of decline of each parameter and its association with inflammatory indices. Standard-operation-procedure documents were prepared for all study procedures, and consultations with the regulatory agency were conducted to ensure the data reliability for future use in clinical trials.</p><p><strong>Conclusions: </strong>Detailed registry data on the natural history and inflammatory profile of RP will be useful in designing study protocols for anti-inflammatory therapy for RP and as natural history data for drug applications.</p>","PeriodicalId":14563,"journal":{"name":"Japanese Journal of Ophthalmology","volume":" ","pages":"378-386"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557082","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":"Utility of intraoperative optical coherence tomography in filtration surgery using MicroShunt.","authors":"Saori Igarashi, Mitsuhiro Matsuzaki, Marika Hirota, Wakako Miyazaki, Shogo Yamamoto, Satoru Yoshimizu, Hirofumi Uyama, Satoshi Yokota, Masashi Fujihara, Fumitaka Hirose, Yasuo Kurimoto","doi":"10.1007/s10384-025-01183-6","DOIUrl":"10.1007/s10384-025-01183-6","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the utility of intraoperative optical coherence tomography (OCT) in filtration surgery using PRESERFLO^® MicroShunt.</p><p><strong>Study design: </strong>Single-center prospective observational study METHODS: Filtration surgery using the MicroShunt was performed on 14 patients (15 eyes) diagnosed with open-angle glaucoma at our institution. The insertion pathway was created using a knife under intraoperative OCT guidance, and the position of the MicroShunt was verified after insertion. In cases of inadequate positioning, a new insertion pathway was created. Furthermore, the correct position was confirmed postoperatively using anterior segment OCT.</p><p><strong>Results: </strong>In all cases, the real-time observation or replay playback of intraoperative OCT allowed for the visualization of the positional relationship between the device and surrounding tissues. This provided valuable assistance in determining the adequacy of the insertion pathway. In certain cases, the knife or inserted MicroShunt was in contact with the cornea or iris, leading to a revision of the insertion pathway. Regardless of the case, at the end of each surgery confirmation was made that the inserted MicroShunt was fixed in the proper position in the anterior chamber. Postoperative anterior segment OCT also revealed its presence in a similar position.</p><p><strong>Conclusion: </strong>Intraoperative OCT is a valuable tool for ensuring a more secure insertion in filtration surgery using MicroShunt.</p>","PeriodicalId":14563,"journal":{"name":"Japanese Journal of Ophthalmology","volume":" ","pages":"425-431"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648620","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":"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":"395-402"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12125131/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Visualization of porcine and human aqueous humor outflow tract anatomies with transparency enhancement.","authors":"Yuichi Asahina, Makoto Aihara, Takashi Miyai, Asami Tanaka, Hiroshi Onodera","doi":"10.1007/s10384-024-01151-6","DOIUrl":"10.1007/s10384-024-01151-6","url":null,"abstract":"<p><strong>Purpose: </strong>There is no established method for visualizing the three-dimensional (3D) structure of the aqueous humor outflow tract. This study attempted to visualize the 3D structures of porcine and human ocular tissues, particularly the aqueous humor outflow tract using a transparency reagent composed of 2, 2-thiodiethanol.</p><p><strong>Study design: </strong>Clinical and experimental.</p><p><strong>Methods: </strong>The porcine eyes were collected in Japan, and the human eyes were imported from the United States. The human eyes were obtained from a 64-year-old Caucasian woman, arriving 7 days after her death. The specimens were formalin-fixed upon arrival, fluorescently labeled, optically cleared using a transparency-enhancing reagent, and visualized using a confocal microscope.</p><p><strong>Results: </strong>Both porcine and human eyes were visualized to the extent that the choroidal vessels were observed on gross examination. The aqueous humor outflow tract was clearly observed as a luminal structure in the porcine eye, mainly depicted by autofluorescence, and in the human eyes as a luminal structure continuing from the trabecular meshwork without fluorescence.</p><p><strong>Conclusion: </strong>Observations using transparency-enhancing technology enabled us to obtain 3D images useful for visualizing ocular tissues, especially the aqueous humor outflow tract.</p>","PeriodicalId":14563,"journal":{"name":"Japanese Journal of Ophthalmology","volume":" ","pages":"460-468"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143005483","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":"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":"469-481"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","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}