Journal of Current Ophthalmology最新文献

{"title":"Off-Label Uses of Ranibizumab and Aflibercept for Age-Related Macular Degeneration in Turkey.","authors":"Mevlut Yilmaz,&nbsp;Mehmet Citirik,&nbsp;Hanife Rahmanlar,&nbsp;Ali Alkan,&nbsp;Hakki Gursoz","doi":"10.4103/joco.joco_323_22","DOIUrl":"https://doi.org/10.4103/joco.joco_323_22","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the clinical and demographic aspects of off-label drug use applications for age-related macular degeneration (AMD) in Turkey.</p><p><strong>Methods: </strong>Applications for off-label drug use in the treatment of AMD to the Turkish Medicines and Medical Devices Agency (TITCK) in 2018 were retrospectively analyzed. Demographic characteristics, requested drugs, previous treatment regimens, and reasons for applications were evaluated.</p><p><strong>Results: </strong>The mean age of the patients (<i>n</i> = 209) was 64.9 ± 15.7 years, of which 48.8% were male and 51.2% were female. Ranibizumab (<i>n</i> = 113) comprised 54.1% and aflibercept (<i>n</i> = 96) 45.9% of off-label use applications. No application was made for bevacizumab. The most frequent reasons for application were switchback (49.3%), nonreimbursement of indicated drugs in cases under 50 years of age (24.4%), and failure to complete the loading dose (14.4%).</p><p><strong>Conclusions: </strong>Ranibizumab was the most requested off-label drug for AMD. There was no application for off-label bevacizumab since its use does not require approval from TITCK. In Turkey, new rules were established for the reimbursement of intravitreal drugs for AMD in 2019. Three doses of intravitreal bevacizumab were required initially for aflibercept and ranibizumab to be covered for reimbursement. There is not enough data in the English literature regarding the off-label use of ranibizumab and aflibercept for AMD. This study provides information about drug regulations and the off-label treatment options preferred by physicians for AMD in Turkey.</p>","PeriodicalId":15423,"journal":{"name":"Journal of Current Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a5/1b/JCO-35-61.PMC10481980.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10180028","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":"Tessier Number 9 Craniofacial Cleft Associated with Goldenhar Syndrome and Its Surgical Management: A Report of a Rare Case.","authors":"Abbas Bagheri,&nbsp;Mohadeseh Feizi,&nbsp;Mehdi Tavakoli","doi":"10.4103/joco.joco_153_22","DOIUrl":"https://doi.org/10.4103/joco.joco_153_22","url":null,"abstract":"<p><strong>Purpose: </strong>To report surgical repair of a rare case of Tessier number 9 craniofacial cleft.</p><p><strong>Methods: </strong>Case report.</p><p><strong>Results: </strong>Tessier number 9 craniofacial cleft is the rarest cleft anomaly. This article reports a congenital eyelid coloboma in a 21-year-old woman that involved the lateral third of the left upper eyelid and extended to the lateral canthus, consistent with number 9 craniofacial cleft Tessier classification. The additional findings included a fibrotic band between the globe and the remnant of the upper lid, which caused a small-angle exotropia. There were also skin appendages in the preauricular area and the inner surface of the nasal columella consistent with Goldenhar syndrome. The eyelid coloboma was repaired by releasing the adhesions and using a composite graft of the hard palate to repair the posterior lamella. The anterior lamella was repaired by creating a skin advancement flap. The esthetic and functional outcomes were acceptable in the 2-year postoperative follow-up period.</p><p><strong>Conclusion: </strong>The composite hard palate graft can be used to repair posterior lamella defect in the case of Tessier number 9 craniofacial cleft.</p>","PeriodicalId":15423,"journal":{"name":"Journal of Current Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9b/52/JCO-35-93.PMC10481972.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10187185","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":"The Effect of Post-Coronavirus Disease 2019 Infection on the Retinal Microvasculature.","authors":"Nermien Salah El-Dien Mohammed El-Haddad,&nbsp;Elham Abd El-Wahed,&nbsp;Adel Abd El-Wahab,&nbsp;Sawssan Shalaby,&nbsp;Mona Mohammad Aly Farag,&nbsp;Nesma Sied Mohammed,&nbsp;Shrief Shawky","doi":"10.4103/joco.joco_273_22","DOIUrl":"https://doi.org/10.4103/joco.joco_273_22","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the short-term microvasculature changes of the macula and optic disc following coronavirus disease 2019 (COVID-19).</p><p><strong>Methods: </strong>This study included 150 eyes (50 eyes of healthy controls and 100 eyes of patients) during the 1^st month following COVID-19 recovery, as evidenced by two negative polymerase chain reactions. A complete ophthalmic examination and optical coherence tomography angiography were performed to detect the deep and superficial macular vessel density (VD). In addition, the VD of the optic disc was evaluated.</p><p><strong>Results: </strong>Deep VD (DVD) showed a statistically significant decrease in post-COVID-19 patients, particularly those with severe COVID-19. This reduction occurred in the whole image, parafoveal, and perifoveal VD (<i>P</i> = 0.002, <i>P</i> = 0.002, and <i>P</i> < 0.001, respectively). Concerning the superficial VD (SVD), only the superior hemisphere of the whole image density was statistically significantly reduced (<i>P</i> = 0.037). There was no statistically significant difference in foveal VD (both deep and superficial vessel) among the study groups (<i>P</i> = 0.148 and <i>P</i> = 0.322, respectively). Regarding the foveal avascular zone (FAZ), there was no statistically significant among groups (<i>P</i> = 0.548). Regarding the optic disc, the whole image VD and redial peripapillary capillary VD demonstrated a highly significant decrease, particularly in cases of severe COVID-19. Conversely, inside disc VD showed a nonsignificant change among the study groups.</p><p><strong>Conclusions: </strong>According to the findings of the current study, retinal microvasculature was affected in the 1^st month following recovery from COVID-19. DVD was significantly reduced more than SVD. In addition, peripapillary VD decreased, whereas the FAZ was unaffected.</p>","PeriodicalId":15423,"journal":{"name":"Journal of Current Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/97/a3/JCO-35-50.PMC10481977.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10189113","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":"Efficacy and Safety of Cataract Surgery-Assisted Selective Laser Trabeculoplasty: A Pilot Study.","authors":"Dmitrii S Maltsev,&nbsp;Alexei N Kulikov,&nbsp;Alina A Kazak,&nbsp;Maria A Burnasheva,&nbsp;Alexander A Vasiliev","doi":"10.4103/joco.joco_23_23","DOIUrl":"https://doi.org/10.4103/joco.joco_23_23","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the intraocular pressure (IOP)-lowering effect and safety of selective laser trabeculoplasty (SLT) with same-day cataract surgery which we named cataract surgery-assisted selective laser trabeculoplasty (CAST) compared to conventional SLT and cataract surgery as standalone procedures.</p><p><strong>Methods: </strong>Patients with primary open-angle glaucoma and cataract were included in this prospective interventional study. All patients received either a CAST procedure, standard SLT, or standard cataract surgery. IOP was assessed at baseline and at months 1, 2, 3, and 6. Topical IOP-lowering medication was canceled during the follow-up if necessary.</p><p><strong>Results: </strong>Twenty-nine, twenty-seven, and thirty eyes received the CAST procedure, SLT, and standard cataract surgery, respectively. There was no statistically significant difference in age, male-to-female ratio, or baseline IOP between groups (<i>P</i> > 0.05). The mean IOP reduction at 6 months after the CAST procedure, SLT, and standard cataract surgery was -7.3 ± 3.8 mmHg, -3.8 ± 3.7 mmHg, and -0.7 ± 3.7 mmHg, respectively (<i>P</i> < 0.001). Eleven out of 29 (37.9%) and 5 out of 27 (18.5%) eyes achieved 30% reduction of IOP after the CAST procedure and SLT, respectively. No eyes achieved 30% reduction of IOP at the end of the follow-up in cataract surgery group. The median number of IOP-lowering medications cancelled after the CAST procedure was 1.0 (range, 0-3). No antiglaucoma medication was cancelled after SLT or cataract surgery. No adverse events were registered in patients who received the CAST procedure.</p><p><strong>Conclusion: </strong>At 6-month follow-up, the CAST procedure had a significantly greater IOP-lowering effect and reduction of topical antiglaucoma medication than SLT or cataract surgery alone.</p>","PeriodicalId":15423,"journal":{"name":"Journal of Current Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/69/be/JCO-35-23.PMC10481979.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10189117","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":"Reply to Letter to Editor: Unilateral Acute Central Serous Chorioretinopathy with Inactivated Coronavirus Disease 2019 Vaccination - A Case Report and Review of Literature.","authors":"Mojtaba Abrishami,&nbsp;Seyedeh Maryam Hosseini,&nbsp;Nasser Shoeibi,&nbsp;Hamid Reza Heidarzadeh","doi":"10.4103/joco.joco_111_23","DOIUrl":"https://doi.org/10.4103/joco.joco_111_23","url":null,"abstract":"","PeriodicalId":15423,"journal":{"name":"Journal of Current Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9a/a4/JCO-35-104.PMC10481985.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10180025","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":"Epidemiology of Ocular Trauma in the Elderly: A Population-Based Study.","authors":"Alireza Hashemi,&nbsp;Mehdi Khabazkhoob,&nbsp;Ahmad Mehri,&nbsp;Abbasali Yekta,&nbsp;Abolghasem Mortazavi,&nbsp;Hassan Hashemi","doi":"10.4103/joco.joco_53_23","DOIUrl":"https://doi.org/10.4103/joco.joco_53_23","url":null,"abstract":"<p><strong>Purpose: </strong>To determine the prevalence of different types of ocular trauma and their relationship with some factors in the elderly population.</p><p><strong>Methods: </strong>The present population-based cross-sectional study was conducted on the elderly population aged 60 years and above in Tehran, Iran, using multi-stage stratified random cluster sampling in 2019. After selecting the samples and their participation in the study, demographic information and history of ocular trauma were obtained through an interview. Psychological evaluation was performed using the Goldberg's 28-question General Health Questionnaire. All study participants underwent optometric and ophthalmological examinations.</p><p><strong>Results: </strong>Three thousand three hundred and ten people participated in the study (response rate: 87.3%). Of these, 1912 individuals (57.8%) were female and the mean age of individuals was 68.25 ± 6.55 (from 60 to 97) years. 7.46% (95% confidence interval [CI]: 6.51-8.41) of the study participants reported a history of ocular trauma. Blunt and chemical traumas were the most and the least common types of ocular trauma, respectively (5.72% and 0.16%). 3.93% of cases visited an ophthalmologist for ocular trauma, 1.67% reported a history of hospitalization, and 1.47% underwent surgery. The prevalence of visual impairment in individuals with a history of ocular trauma was 12.53%. Visual impairment was more prevalent in people with a history of ocular trauma than those without a history of ocular trauma (<i>P</i> < 0.05). History of ocular trauma was only significantly related to low education level (odds ratio = 0.63, 95% CI = 0.40-0.99). Participants with a history of ocular trauma had more anxiety and higher mean psychological distress score than those without a history of ocular trauma (<i>P</i> = 0.035).</p><p><strong>Conclusions: </strong>The development of preventive programs against the occurrence of ocular trauma can play an important role in reducing the psychological damage of affected patients while reducing visual disorders. These interventions should be especially considered in groups with a lower education level.</p>","PeriodicalId":15423,"journal":{"name":"Journal of Current Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a4/a0/JCO-35-79.PMC10481976.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10187188","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":"Efficacy and Safety of Iris-Claw Intraocular Lens in Pediatric Ectopia Lentis: A Literature Review.","authors":"Dian Estu Yulia,&nbsp;Diajeng Ayesha Soeharto","doi":"10.4103/joco.joco_249_22","DOIUrl":"https://doi.org/10.4103/joco.joco_249_22","url":null,"abstract":"Purpose: To review current evidence regarding the use of iris-claw intraocular lens (IOL) in terms of its efficacy and safety in the population of pediatric ectopia lentis. Methods: A comprehensive literature search of six electronic databases (PubMed-NCBI, Medline-OVID, Embase, Cochrane, Scopus, and Wiley) and secondary search through reference lists was conducted using keywords selected a priori. All primary studies on the use of iris-claw in pediatric ectopia lentis that evaluated visual acuity (VA), complications, and endothelial cell density (ECD) were included and critically appraised using the Newcastle–Ottawa Scale. Results: Ten studies were eligible for inclusion with an overall sample size of 168 eyes of children with ectopia lentis, and the majority of studies evaluated anterior iris-claw IOL. All studies reported improvement in postoperative VA. The most commonly reported complication across studies was IOL decentration. All studies reported decreasing ECD, and this was observed in both anterior and retropupillary iris-claw IOL. Conclusion: Current evidence shows that iris-claw IOL is effective in terms of improving VA in pediatric ectopia lentis. Due to the lack of long-term evidence of its safety in children, one must remain cautious regarding potential endothelial cell loss. Further high-quality, interventional, long-term studies are needed.","PeriodicalId":15423,"journal":{"name":"Journal of Current Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/80/0b/JCO-35-1.PMC10481981.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10187190","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":"Vision-Related Quality of Life and Ocular Parameters in End-Stage Renal Disease Patients Undergoing Hemodialysis.","authors":"Sophia Moshegov,&nbsp;Ishith Seth,&nbsp;Olivia Wawryk,&nbsp;Sukhpal Singh Sandhu,&nbsp;Marc Lanteri,&nbsp;Paul N Baird,&nbsp;Srujana Sahebjada","doi":"10.4103/joco.joco_56_22","DOIUrl":"https://doi.org/10.4103/joco.joco_56_22","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the vision-related quality of life (VRQoL) of patients receiving hemodialysis through the assessment of the impact of vision impairment (IVI) questionnaire and ocular parameters, including best-corrected visual acuity (BCVA), intraocular pressure (IOP), and refraction as calculated by spherical equivalent (SE) of each eye.</p><p><strong>Methods: </strong>Fifty-one patients with end-stage renal disease undergoing hemodialysis at a single center were recruited, and a total of 77 eyes were evaluated. BCVA, IOP, and SE were evaluated before and after hemodialysis (within 30 min).</p><p><strong>Results: </strong>Of the 51 patients recruited, 13 (25%) were female, 37 (73%) were male, and one (2%) chose not to specify gender. The mean age was 61.85 ± 32 years. The mobility IVI score was correlated significantly with the presence of hypertension (<i>P</i> = 0.01), eye drop usage (<i>P</i> = 0.04), and gender (<i>P</i> = 0.04). Emotional IVI scores were correlated significantly with diabetes (<i>P</i> = 0.03) and hypertension (<i>P</i> < 0.01). IOP significantly correlated with the IVI overall score (<i>P</i> = 0.02), including the reading IVI subscale and the emotional IVI subscale. Several factors were associated with posthemodialysis ocular parameters, including predialysis ocular parameters, age, and hypertension (<i>P</i> < 0.05 for all).</p><p><strong>Conclusions: </strong>IOP significantly correlated with VRQoL in hemodialysis patients. Demographic variables such as diabetes status, hypertension, eye drop usage, and gender also significantly correlated with subsections of the IVI questionnaire. This study investigated the relationship between ocular parameters and VRQoL in hemodialysis patients, and future longitudinal research is needed to further elucidate the mechanisms.</p>","PeriodicalId":15423,"journal":{"name":"Journal of Current Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b0/1e/JCO-35-66.PMC10481989.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10187187","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":"Unplanned Reoperation following Vitreoretinal Surgery.","authors":"Ali Akbarzadeh,&nbsp;Amin Zand,&nbsp;Masoud Rahimi,&nbsp;Reza Mirshahi,&nbsp;Mohammad Mehdi Parvaresh,&nbsp;Khalil Ghasemi Falavarjani","doi":"10.4103/joco.joco_343_22","DOIUrl":"https://doi.org/10.4103/joco.joco_343_22","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the incidence of unplanned return to the operating room following vitreoretinal surgery and assess the reasons.</p><p><strong>Methods: </strong>In this retrospective case series, medical records of all patients who underwent vitreoretinal surgery were reviewed to determine the incidence and reasons of early (<30 days postoperatively) and late (≥30 days postoperatively) unplanned reoperations after the surgery.</p><p><strong>Results: </strong>A total of 488 eyes of 468 patients with a mean age of 55.84 ± 18.23 years were included. Fourteen percent (68/488) of eyes required one or more unplanned reoperation following their primary surgery. These include 3.9% (19/488) for the early and 10.0% (49/488) for the late reoperation. The most common primary reason for baseline surgery was rhegmatogenous retinal detachment (RRD) without proliferative vitreoretinopathy (PVR, 38.2%), followed by RD with PVR (23.5%), and tractional RD (TRD, 19.1%). Unplanned reoperations were most common in RD with PVR (19.3%), RRD without PVR (17.2%), and TRD (14.4%). Overall, the most common reasons of the first unplanned reoperation were repeated RD with PVR (27.9%), repeated RD (19.1%), and the presence of silicone oil (SO) in the anterior chamber (AC) (10.3%). For early unplanned reoperations, SO in AC, postoperative endophthalmitis, and persistent hyphema were the most common causes. Repeated RD with PVR was the most prevalent cause of late unplanned reoperations (34.7%). In the multivariate analysis, preoperative best-corrected visual acuity (BCVA) was significantly lower in eyes with unplanned reoperation than in eyes without (<i>P</i> = 0.011).</p><p><strong>Conclusions: </strong>Unplanned reoperation following vitreoretinal surgery is not very common, and occurs mostly in the setting of PVR, RRD, and TRD. Lower preoperative BCVA may indicate an increased chance of future unplanned reoperation(s).</p>","PeriodicalId":15423,"journal":{"name":"Journal of Current Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/fd/1b/JCO-35-56.PMC10481975.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10180023","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":"Identification of a Missense Mutation in <i>GJA8</i> Gene in an Iranian Family with Autosomal Dominant Congenital Cataract.","authors":"Mahla Asghari,&nbsp;Soheila Abedini,&nbsp;Melika Farshidianfar,&nbsp;Amir Tajbakhsh,&nbsp;Akbar Derakhshan,&nbsp;Alireza Pasdar","doi":"10.4103/joco.joco_2_22","DOIUrl":"https://doi.org/10.4103/joco.joco_2_22","url":null,"abstract":"<p><strong>Purpose: </strong>To identify the causative mutations of autosomal dominant (AD) congenital cataracts in a large Iranian family.</p><p><strong>Methods: </strong>The complete and accurate family history and clinical information of participants were collected. A total of 51 family members, including 22 affected and 29 unaffected individuals, were recruited in this study. We performed whole exome sequencing to reveal pathogenic mutation. We used amplification refractory mutation system polymerase chain reaction and Sanger sequencing techniques to confirm segregation in patients and also to rule it out in the healthy participants.</p><p><strong>Results: </strong>A known missense mutation, c.827C>T (S276F), in <i>GJA8</i> was identified. This mutation was confirmed in all patients. Neither all healthy family members nor 100 healthy individuals who served as controls from general population had this mutation.</p><p><strong>Conclusion: </strong>The missense mutation c. 827C>T in the <i>GJA8</i> gene is associated with AD congenital lamellar cataract with complete penetrance in a six-generation Iranian family.</p>","PeriodicalId":15423,"journal":{"name":"Journal of Current Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/92/fc/JCO-35-73.PMC10481974.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10180024","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}