BMJ Open Ophthalmology最新文献

{"title":"Effect of ripasudil after trabeculectomy with mitomycin C: a multicentre, randomised, prospective clinical study.","authors":"Aisyah Muhlisah, Kazuyuki Hirooka, Ariyanie Nurtania, Hiromitsu Onoe, Hideaki Okumichi, Eri Nitta, Tetsuya Baba, Masaki Tanito, Yotaro Matsuoka, Shunsuke Nakakura, Yoshiaki Kiuchi","doi":"10.1136/bmjophth-2023-001449","DOIUrl":"10.1136/bmjophth-2023-001449","url":null,"abstract":"<p><strong>Background: </strong>To investigate if there are improvements in trabeculectomy outcomes supporting filtration bleb formation caused by Rho-associated protein kinase (ROCK) inhibitors.</p><p><strong>Methods: </strong>This prospective, multicentre, randomised, open-label clinical study examined open-angle glaucoma patients who underwent trabeculectomy or trabeculectomy combined with cataract surgery followed by 3-month postoperative ripasudil treatments. After randomly allocating patients to ripasudil-ROCK inhibitor (ripasudil) or without ripasudil (non-ripasudil) groups. Mean intraocular pressure (IOP) changes, success rate, and number of eyedrops were compared for both groups.</p><p><strong>Results: </strong>A total of 17 and 15 subjects dropped out in the ripasudil group and non-ripasudil group, respectively. At baseline, the mean IOP was 16.8±5.0 mm Hg in the ripasudil group (38 patients) and 16.2±4.4 in the non-ripasudil group (52 patients). The IOP decreased to 11.4±3.2 mm Hg, 10.9±3.9 mm Hg and 10.6±3.5 mm Hg at 12, 24 and 36 months in the ripasudil group, while it decreased to 11.2±4.1 mm Hg, 10.5±3.1 mm Hg and 10.9±3.2 mm Hg at 12, 24 and 36 months in the non-ripasudil group, respectively. There was a significant decrease in the number of IOP-lowering medications after trabeculectomy in the ripasudil group versus the non-ripasudil group at 24 (p=0.010) and 36 months (p=0.016). There was no statistically significant difference between the groups for the 3-year cumulative probability of success.</p><p><strong>Conclusion: </strong>Although ripasudil application did not increase the primary trabeculectomy success rate, it did reduce IOP-lowering medications after trabeculectomy with mitomycin C.</p>","PeriodicalId":9286,"journal":{"name":"BMJ Open Ophthalmology","volume":"9 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11227813/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141497203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of defocus incorporated multiple segments (DIMS) spectacle lenses for myopia control on quality of life of the children: a qualitative study.","authors":"Mobashir Fatimah, Sumita Agarkar, Anuradha Narayanan","doi":"10.1136/bmjophth-2023-001562","DOIUrl":"10.1136/bmjophth-2023-001562","url":null,"abstract":"<p><strong>Objective: </strong>To assess the impact of DIMS (defocus incorporated multiple segments) spectacle lenses on the quality of life of children using it.</p><p><strong>Methods: </strong>Separate in-depth interviews were conducted with children using DIMS as a myopia control strategy for at least 1 month and their parents based on prepared guides. The recorded audio of the interviews was transcribed, and the significant data points were coded using a hybrid approach, that is, both the inductive and deductive coding methods were used to identify themes. The generated codes were further grouped, categorised and finally fitted as per relevance into the subdomains of the four domains of the WHO Quality of Life-Brief framework, namely the domains of social relationships, physical, psychological and environmental health.</p><p><strong>Results: </strong>A total of 29 interviews were conducted, 15 with children (mean age: 12.47±2.13 years) and 14 with parents. Thematic analysis was done and a total of 63 codes were generated with 2, 16, 17 and 28 codes aligning to the domains of social relationships, environmental, psychological and physical health, respectively. Most parents did not notice any change in their child's visual behaviour, yet children did experience symptoms such as peripheral blurred vision, eyestrain, headache, haloes and more during the adaptation period. High-cost, scratch-prone nature and difficulty in procurement were a few concerns raised by parents.</p><p><strong>Conclusions: </strong>Participants were satisfied with most of the facets of social relationships, physical and psychological health domains. However, a few facets such as quality, accessibility and finance of the environmental health domain need improvement.</p>","PeriodicalId":9286,"journal":{"name":"BMJ Open Ophthalmology","volume":"9 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11227816/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141497204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessing the cataract surgical rate and gender equity in cataract services in south-east Nigeria","authors":"Onyinye Onyia, Ada Ejealor Aghaji, Christiana Ubaka, Eberechukwu Ogbeanu Achigbu, Ifeoma Lilian Ejiakor, Adaku I Mbatuegwu, Chiamaka J P Okeke, Barbara C Okoli, Emmanuel U Ogborogu, Kenneth C Dike, Florence U Nkwogu, Clare Gilbert","doi":"10.1136/bmjophth-2023-001326","DOIUrl":"https://doi.org/10.1136/bmjophth-2023-001326","url":null,"abstract":"Background In 2020, almost 100 million people were blind or visually impaired from cataract. Cataract surgery is a cost-effective treatment for cataracts. In Nigeria, twice as many women are cataract blind as men. Cataract surgical rate (CSR, the number of cataract operations per million population per year in a defined geographical location) is an output indicator of cataract surgical services. The recommended target CSR for sub-Saharan Africa is 1000/year. The aim of this study was to assess the CSR in men and women in Imo state, Nigeria. Methods A retrospective review of cataract surgery undertaken in all eye health facilities in Imo State in 2019. Data collected included the type and location of facilities, patient demographics and the number and type of cataract operations performed in each facility. The CSR was calculated overall, in men and women, and in younger and older women. Results The CSR overall was 330/million and was slightly higher in women (347/million) than in men (315/million) (p<0.001). More elderly women (≥65 years) accessed cataract surgery through outreach than men and younger women (OR 1.5 (95% CI 1.03 to 2.22, p=0.03) and 1.6 (95% CI 1.07 to 2.44, p=0.02)), respectively. Conclusion The overall CSR in Imo state was approximately one-third of that recommended for sub-Saharan Africa. Although the CSR was higher in women than in men, considerably higher CSRs are needed in women to address their higher burden of cataract blindness. Operational and intervention science research are needed, to identify and evaluate interventions which address demand and supply barriers to accessing cataract surgery, particularly for elderly women. Data are available on reasonable request. Not applicable.","PeriodicalId":9286,"journal":{"name":"BMJ Open Ophthalmology","volume":"1 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141865437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Subscapular skinfold thickness, not other anthropometric and dual-energy X-ray absorptiometry-measured adiposity, is positively associated with the presence of age-related macular degeneration: a cross-sectional study from National Health and Nutrition Examination Survey 2005–2006","authors":"Miguel Gedtal, Jayne Woodside, David Wright, Margaret Rayman, Ruth Esther Hogg","doi":"10.1136/bmjophth-2023-001505","DOIUrl":"https://doi.org/10.1136/bmjophth-2023-001505","url":null,"abstract":"Objective Current literature reveals an association between anthropometric measures of adiposity (AnthM) and age-related macular degeneration (AMD), but few have explored the disease association with imaging methods. This study aimed to explore the relationship between AMD status and dual-energy X-ray absorptiometry measures (DEXAMs) among a representative sample of the US population, and compare the association with AnthM. Method Using a representative sample in the National Health and Nutrition Examination Study 2005–2006 (n=1632), DEXAMs across the whole body and waist (ie, android), and relative fat distributions (eg, percentage fat, android-to-total body ratio) were analysed between no AMD (baseline) and any AMD. Bivariate analyses across AMD status were similarly performed for AnthM (ie, body mass index, waist circumference and skinfold thicknesses) and potential confounders (ie, demographics and health-related variables). Significant adiposity measures were analysed using logistic regression, adjusting for confounders. Results The participants in the sample were aged 40–69 years, were majority female (52%) and mainly Caucasian (76.5%). Bivariate analysis revealed having any AMD had positive significant associations with android-to-total fat ratio and subscapular skinfold thickness (SSFT). Other AnthM and DEXAMs were not significant. After adjusting age, gender and prescription of cholesterol-lowering medicine, only SSFT remained significantly associated. Conclusion SSFT represents an independent risk factor for AMD presence compared with other AnthM and DEXAMs. SSFT is an established method of measuring fat under the skin (ie, subcutaneous fat). Hence, subcutaneous fat may be more relevant in explaining the adiposity–AMD link due to physiological properties specific to the tissue. Limitations include the restricted age range and low numbers of participants with late AMD. Data are available in a public, open access repository.","PeriodicalId":9286,"journal":{"name":"BMJ Open Ophthalmology","volume":"44 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141865433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of mode of delivery on incidence of retinopathy of prematurity: a systematic review and meta-analysis.","authors":"Vera Sumual, Reynardi Larope Sutanto, Angelina Patricia Chandra","doi":"10.1136/bmjophth-2024-001678","DOIUrl":"10.1136/bmjophth-2024-001678","url":null,"abstract":"<p><strong>Background: </strong>Retinopathy of prematurity (ROP) is a leading cause of childhood blindness worldwide. Prompt diagnosis and treatment are crucial in ROP management. Thus, the identification of prominent risk factors could facilitate immediate action. Among various risk factors, the effects of mode of delivery on ROP remain unclear. Therefore, this study aims to assess the association between different modes of delivery on ROP incidence.</p><p><strong>Methods and analysis: </strong>Comprehensive literature search was conducted on PubMed, ProQuest, EBSCOHost and Cochrane databases, to evaluate the association of mode of delivery-vaginal delivery or caesarean section (c-section)-and the incidence of ROP from inception to December 2023. Random-effects meta-analysis was performed to estimate the pooled OR along with their 95% CIs.</p><p><strong>Results: </strong>This review included 5 cohort studies involving 2048 babies. A higher incidence of ROP was observed in infants born through vaginal delivery compared with caesarean section. Meta-analysis showed that C-section decreased the unadjusted odds of having ROP infants by 46% with low heterogeneity (OR 0.54 (95% CI 0.40 to 0.73); I²=40.73%). However, pooled adjusted effects were statistically insignificant with moderate heterogeneity (adjusted OR 0.59 (95% CI 0.28 to 1.23); I²=70.51%), possibly stemming from multiple variations in the controlled variables of each study.</p><p><strong>Conclusion: </strong>Despite varying statistical significance, our findings underscore the crucial need to comprehend the influence of delivery mode on neonatal ophthalmic outcomes. Due to a limited number of existing studies, further research is needed to confirm the association.</p><p><strong>Prospero registration number: </strong>CRD42023486278.</p>","PeriodicalId":9286,"journal":{"name":"BMJ Open Ophthalmology","volume":"9 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11202656/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141449800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Graves' ophthalmopathy: the clinical and psychosocial outcomes of different medical interventions - a systematic review.","authors":"Oyinlola Maria Bello, Maralyn Druce, Ejaz Ansari","doi":"10.1136/bmjophth-2023-001515","DOIUrl":"10.1136/bmjophth-2023-001515","url":null,"abstract":"<p><strong>Background: </strong>Graves' ophthalmopathy is a complex autoimmune disorder that can significantly affect quality of life (QoL), vision and physical appearance. Recently, a deeper understanding of the underlying pathogenesis has led to the development of novel treatment options.</p><p><strong>Aims: </strong>The purpose of this review is to explore the current literature on conventional and novel treatment modalities and to evaluate which interventions provide the most favourable psychological and clinical outcomes in patients with moderate to severe, active Grave's ophthalmopathy. For example, QoL is an important psychosocial outcome of disease management. However, available literature demonstrates that not all clinically effective treatment options improve patients' QoL.</p><p><strong>Methods: </strong>A systematic literature review was conducted to assess the clinical and psychosocial outcomes of different therapies for Graves' ophthalmopathy. An extensive database search of Ovid Medline, Ovid Embase and Cochrane Central Register of Controlled Trials was conducted. Studies generated were reviewed and the relevant selected data were retrieved and analysed.</p><p><strong>Results: </strong>Results showed intravenous steroids, rituximab (RTX), tocilizumab and teprotumumab were all significantly effective in improving Clinical Activity Scores. Orbital radiotherapy showed a slight improvement in proptosis and diplopia. All interventions were safe with few serious adverse events being reported across all studies. All treatment modalities demonstrated beneficial improvements in both components of the Graves' Ophthalmopathy-QoL (QoL) questionnaire, apart from orbital radiotherapy which only demonstrated improvements in the visual functioning subscale. Teprotumumab was identified to be the most effective intervention for improving both clinical and psychosocial outcomes. However, further research needs to be conducted to evaluate its side effect profile and cost-effectiveness. Nonetheless, with time it has the potential to be a first-line treatment option in the management of active moderate to severe Graves' ophthalmopathy.</p>","PeriodicalId":9286,"journal":{"name":"BMJ Open Ophthalmology","volume":"9 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11184183/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141417868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multiple use of preservative-free single dose unit dexamethasone 0.1% eye drops is safe within 24 hours.","authors":"Fabienne C Fierz, Silvan Locher, Lucas Bachmann, Philipp B Baenninger, Frank Bochmann, Claude Kaufmann, Irena Mitrovic, Marco Rossi, Michael A Thiel, Jeremy P Howell","doi":"10.1136/bmjophth-2024-001632","DOIUrl":"10.1136/bmjophth-2024-001632","url":null,"abstract":"<p><strong>Background: </strong>Unpreserved single-dose unit (SDU) eye drops are commonly used to avoid benzalkonium chloride-related toxicity. Although intended for single use, many patients report off-label repeated use of SDUs over a prolonged period. We investigated whether repeated use of dexamethasone 0.1% SDUs in the same patient increases the bacterial contamination rate.</p><p><strong>Methods: </strong>We prospectively enrolled patients scheduled for inpatient corneal and glaucoma surgery receiving dexamethasone 0.1% SDU four times per day from the same vial. To assess contamination rates, one drop from the vial was cultured immediately after opening the SDU (t0), 10 hours later after four drop applications (t10) and 24 hours after opening without further drop applications (t24). Conjunctival swabs were taken before and after drop application. Contamination rate was assessed with a standard clinical culturing protocol without introducing a positive control.</p><p><strong>Results: </strong>110 eyes of 109 patients were evaluated. Drops collected immediately after opening the SDU (t0) were contaminated in 9/110 cultures (8.1%). At t10, 13/110 cultures were contaminated (11.8%; p=0.267) and 11/110 at t24 (10.0%; t24 vs t0; p=1.00). In 5 of 21 cases of contaminated drops at t10 and/or t24, the same isolates were cultured from the initial conjunctival swab and the SDU. In three cases, the same bacterial species was found in consecutive samples.</p><p><strong>Conclusion: </strong>The contamination rate of the SDU did not increase after multiple use within 24 hours. Contamination from fingertip flora was more likely than from ocular surface flora. Reuse of dexamethasone 0.1% SDU in the same patient within 24 hours appears to be safe.</p>","PeriodicalId":9286,"journal":{"name":"BMJ Open Ophthalmology","volume":"9 1","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11331357/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141236917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical characteristics of recurrent non-arteritic retinal artery occlusion.","authors":"Hyeong Min Kim, Se Joon Woo","doi":"10.1136/bmjophth-2024-001636","DOIUrl":"10.1136/bmjophth-2024-001636","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the recurrent non-arteritic retinal artery occlusion (RAO) in the same or opposite eye.</p><p><strong>Methods: </strong>We searched the RAO registry at Seoul National University Bundang Hospital and included patients with recurrent RAO in the present study. Ophthalmic and systemic features were analysed to identify risk factors and visual outcomes.</p><p><strong>Results: </strong>Of the 850 patients in the non-arteritic RAO cohort, 11 (1.3%) experienced a second RAO recurrence, either in the same (5 patients; 0.6%) or opposite (6 patients; 0.7%) eye. The same eye group experienced an earlier recurrence (1-2 months, median 1 month) than the opposite eye group, where the time to recurrence was notably longer (8-66 months, median 22 months). Best corrected visual acuity (BCVA) in the same eye group decreased after the recurrence of RAO. In the same eye group, initial BCVA ranged from 20/200 to counting fingers (CF), while BCVA during RAO recurrence ranged from CF to hand motion. When RAO recurred in the opposite eye, the reduction in visual acuity was less severe than the reduction of the initial episode: initial episode ranged from 20/400 to light perception and recurrent episode ranged from 20/25 to 20/400. Patients exhibited varying degrees of carotid (81.8%) and cerebral (9.1%) artery occlusions. Additionally, one patient in each group (total 2 patients, 18.2%) experienced a stroke 6 months after RAO recurrence.</p><p><strong>Conclusions: </strong>Since the RAO recurrences could lead to devastating visual impairment, it is essential to emphasise the importance of risk factor screening to patients while collaborating with neurologists and cardiologists.</p>","PeriodicalId":9286,"journal":{"name":"BMJ Open Ophthalmology","volume":"9 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11138310/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141179062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Light exposure profiles differ between myopes and non-myopes outside school hours.","authors":"Rohit Dhakal, John G Lawrenson, Byki Huntjens, Rakhee Shah, Pavan Kumar Verkicharla","doi":"10.1136/bmjophth-2023-001469","DOIUrl":"10.1136/bmjophth-2023-001469","url":null,"abstract":"<p><strong>Purpose: </strong>Considering the putative role of light in myopia, and variations in socioeconomic, lifestyle, educational and environmental factors across ethnicities, we objectively investigated light exposure patterns in Indian school children.</p><p><strong>Methods: </strong>The light exposure profile of 143 school children (9-15 years, 50 myopes) recorded using a validated wearable light tracker for six continuous days was analysed. Additional data for non-school days were available for 87 children (26 myopes). The illuminance exposure levels, time spent outdoors and epoch (number of times participant is exposed to a predefined range of lux level per day) were compared between myopes and non-myopes across different light conditions: ≥1000, ≥3000, ≥5000 and ≥10 000 lux. For school days, light exposure profiles during (1) before school, school and after school hours; and (2) class, break and transition (when a student travels to and from school) time were analysed.</p><p><strong>Results: </strong>The overall median (IQR) daily illuminance exposure level, time spent outdoors and epochs at outdoors (≥1000 lux) were 807 (507-1079) lux/day, 46 (30-64) min/day and 9 (6-12) times/day, respectively. The daily illuminance exposure on non-school days was significantly higher in non-myopes than myopes (6369 (4508-9112) vs 5623 (2616-6929) lux/day, p=0.04). During transition time (school days), non-myopes had significantly higher illuminance exposure (910 (388-1479) vs 550 (263-1098) lux/day, p=0.04), spent more time outdoors (25 (10-43) vs 14 (4-29) min/day, p=0.01) and had higher outdoor epochs (6 (4-11) vs 5 (2-8) times/day, p=0.01) than myopes.</p><p><strong>Conclusions: </strong>A small but significant difference in illuminance exposure, time spent outdoors and epoch was noted between myopes and non-myopes during transition time, which may have implications in myopia control.</p>","PeriodicalId":9286,"journal":{"name":"BMJ Open Ophthalmology","volume":"9 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11138295/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141179065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trio-based whole-exome sequencing reveals mutations in early-onset high myopia.","authors":"Lu Ye, Yi-Ming Guo, Yi-Xin Cai, Junhan Wei, Juan Huang, Jiejing Bi, Ding Chen, Fen-Fen Li, Xiu-Feng Huang","doi":"10.1136/bmjophth-2024-001720","DOIUrl":"10.1136/bmjophth-2024-001720","url":null,"abstract":"<p><strong>Purpose: </strong>Myopia, especially high myopia (HM), represents a widespread visual impairment with a globally escalating prevalence. This study aimed to elucidate the genetic foundations associated with early-onset HM (eoHM) while delineating the genetic landscape specific to Shaanxi province, China.</p><p><strong>Methods: </strong>A comprehensive analysis of whole-exome sequencing was conducted involving 26 familial trios displaying eoHM. An exacting filtration protocol identified potential candidate mutations within acknowledged myopia-related genes and susceptibility loci. Subsequently, computational methodologies were employed for functional annotations and pathogenicity assessments.</p><p><strong>Results: </strong>Our investigation identified 7 genes and 10 variants associated with HM across 7 families, including a novel mutation in the <i>ARR3</i> gene (c.139C>T, p.Arg47*) and two mutations in the <i>P3H2</i> gene (c.1865T>C, p.Phe622Ser and c.212T>C, p.Leu71Pro). Pathogenic mutations were found in syndromic myopia genes, notably encompassing <i>VPS13B</i>, <i>TRPM1, RPGR</i>, <i>NYX</i> and <i>RP2</i>. Additionally, a thorough comparison of previously reported causative genes of syndromic myopia and myopia risk genes with the negative sequencing results pinpointed various types of mutations within risk genes.</p><p><strong>Conclusions: </strong>This investigation into eoHM within Shaanxi province adds to the current understanding of myopic genetic factors. Our results warrant further functional validation and ocular examinations, yet they provide foundational insights for future genetic research and therapeutic innovations in HM.</p>","PeriodicalId":9286,"journal":{"name":"BMJ Open Ophthalmology","volume":"9 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11129018/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141092849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}