Pub Date : 2023-12-20eCollection Date: 2023-10-01DOI: 10.4103/tjo.TJO-D-23-00076
Manjushree Bhate, Divya Motwani, Somasheila I Murthy, Merle Fernandes
The crystalline lens is an important structure in the eye that starts to develop as early as the 22nd day of gestation, with further differentiation that continues after the induction. Congenital anomalies of the lens may involve the size, shape, and position of the lens. They may sometimes be associated with anterior segment dysgenesis or persistence of the tunica vasculosa lentis and hyperplastic vitreous and hyaloid system. Manifestations of anomalies of the lens shape are usually seen in early or late childhood however may sometimes be delayed into adulthood based on the level of visual impairment or the presence or absence of any syndromic associations. While lens coloboma has more often been reported in isolation, the more commonly implicated genes include the PAX6 gene, lenticonus in particular anterior is often part of Alport syndrome with extra-ocular manifestations in the kidneys and hearing abnormalities due to mutations in the alpha 5 chain of the Type IV collagen gene. Recognition of these manifestations and obtaining a genetic diagnosis is an important step in the management. The level of visual impairment and amblyopia dictates the outcomes in patients managed either conservatively with optical correction as well as surgically where deemed necessary. This review discusses the various anomalies of the lens shape with its related genetics and the management involved in these conditions.
晶状体是眼睛的重要结构，早在妊娠第 22 天就开始发育，并在诱导后继续进一步分化。晶状体的先天性异常可能涉及晶状体的大小、形状和位置。它们有时可能与前段发育不良或扁桃体蔓状血管持续存在以及玻璃体和类玻璃体系统增生有关。晶状体形状异常的表现通常出现在儿童早期或晚期，但有时也会根据视力受损程度或是否存在任何综合征而延迟到成年。虽然晶状体角膜畸形更常被单独报道，但更常涉及的基因包括 PAX6 基因，尤其是前部晶状体角膜畸形通常是阿尔波特综合征的一部分，由于 IV 型胶原蛋白基因的α 5 链发生突变，患者会出现肾脏和听力异常等眼外表现。识别这些表现并获得基因诊断是治疗的重要一步。视力损伤和弱视的程度决定了患者的治疗效果，既可以通过光学矫正进行保守治疗，也可以在必要时进行手术治疗。本综述将讨论晶状体形状的各种异常及其相关遗传学和这些病症的处理方法。
{"title":"Congenital anomalies of lens shape.","authors":"Manjushree Bhate, Divya Motwani, Somasheila I Murthy, Merle Fernandes","doi":"10.4103/tjo.TJO-D-23-00076","DOIUrl":"10.4103/tjo.TJO-D-23-00076","url":null,"abstract":"<p><p>The crystalline lens is an important structure in the eye that starts to develop as early as the 22<sup>nd</sup> day of gestation, with further differentiation that continues after the induction. Congenital anomalies of the lens may involve the size, shape, and position of the lens. They may sometimes be associated with anterior segment dysgenesis or persistence of the tunica vasculosa lentis and hyperplastic vitreous and hyaloid system. Manifestations of anomalies of the lens shape are usually seen in early or late childhood however may sometimes be delayed into adulthood based on the level of visual impairment or the presence or absence of any syndromic associations. While lens coloboma has more often been reported in isolation, the more commonly implicated genes include the PAX6 gene, lenticonus in particular anterior is often part of Alport syndrome with extra-ocular manifestations in the kidneys and hearing abnormalities due to mutations in the alpha 5 chain of the Type IV collagen gene. Recognition of these manifestations and obtaining a genetic diagnosis is an important step in the management. The level of visual impairment and amblyopia dictates the outcomes in patients managed either conservatively with optical correction as well as surgically where deemed necessary. This review discusses the various anomalies of the lens shape with its related genetics and the management involved in these conditions.</p>","PeriodicalId":44978,"journal":{"name":"Taiwan Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10798395/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139514023","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}
Congenital aniridia is a rare genetic eye disorder characterized by the complete or partial absence of the iris from birth. Various theories and animal models have been proposed to understand and explain the pathogenesis of aniridia. In the majority of cases, aniridia is caused by a mutation in the PAX6 gene, which affects multiple structures within the eye. Treating these ocular complications is challenging and carries a high risk of side effects. However, emerging approaches for the treatment of aniridia-associated keratopathy, iris abnormalities, cataract abnormalities, and foveal hypoplasia show promise for improved outcomes. Genetic counseling plays a very important role to make informed choices. We also provide an overview of the newer diagnostic and therapeutic approaches such as next generation sequencing, gene therapy, in vivo silencing, and miRNA modulation.
{"title":"New horizons in aniridia management: Clinical insights and therapeutic advances.","authors":"Abha Gour, Shailaja Tibrewal, Aastha Garg, Mehak Vohra, Ria Ratna, Virender Singh Sangwan","doi":"10.4103/tjo.TJO-D-23-00140","DOIUrl":"10.4103/tjo.TJO-D-23-00140","url":null,"abstract":"<p><p>Congenital aniridia is a rare genetic eye disorder characterized by the complete or partial absence of the iris from birth. Various theories and animal models have been proposed to understand and explain the pathogenesis of aniridia. In the majority of cases, aniridia is caused by a mutation in the <i>PAX6</i> gene, which affects multiple structures within the eye. Treating these ocular complications is challenging and carries a high risk of side effects. However, emerging approaches for the treatment of aniridia-associated keratopathy, iris abnormalities, cataract abnormalities, and foveal hypoplasia show promise for improved outcomes. Genetic counseling plays a very important role to make informed choices. We also provide an overview of the newer diagnostic and therapeutic approaches such as next generation sequencing, gene therapy, <i>in vivo</i> silencing, and miRNA modulation.</p>","PeriodicalId":44978,"journal":{"name":"Taiwan Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10798387/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139514030","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}
Pub Date : 2023-12-15DOI: 10.4103/tjo.tjo-d-23-00015
A. Ghai, Jatinder Bali, Nikita Sethi, Surakshya Rajaure, Salman Sarkar
Intracameral mydriatic agents (ICMAs) are replacing the conventional method of topical mydriasis for its fast action and no need for repeated instillation before cataract surgery. Its application for the management of intraoperative miosis needs to be studied with different doses of mydriatic agent. The objective of the study is to study cardiovascular effects of diluted intracameral combination of 0.02% tropicamide, 0.31% phenylephrine, and 1% lidocaine during phacoemulsification to manage intraoperative miosis. The study was conducted at Mojiram Lions Eye Hospital Akbarpur Majra village, Palla Bakhtawarpur Road, Delhi, during the year 2021–2022 after taking approval from the Ethical Committee of the hospital. Patients undergoing cataract surgery who were not dilated adequately during the preoperative period or developed intraoperative miosis were managed by injecting diluted intracameral combination of 0.02% tropicamide, 0.31% phenylephrine, and 1% lidocaine (phenocaine plus). 0.5 ml of phenocaine plus was diluted with 1.5 ml of ringer lactate solution and 0.50 ml of this solution was injected intracameral and its effect on pulse rate, blood pressure (BP), and oxygen saturation were monitored continuously on pulse oximeter. There was no statistically significant effect of diluted ICMA (Phenocaine Plus) on diastolic BP and oxygen saturation. However, systolic BP showed a little change from mean of 133.78 (standard deviation [SD] =16.04) mmHg to 133.92 (SD = 15.33) mmHg which was statistically significant but clinically not significant. Pulse rate increased slightly from mean 76.46 per minutes (SD = 15.14) to 79.40 (SD = 14.95) at 10 s and 76.49 (SD = 15.15) at 60 s. The difference was again statistically significant but clinically insignificant. Low concentration of intracameral combination of 0.02% tropicamide, 0.31% phenylephrine, and 1% lidocaine is a very safe and effective method for the management of intraoperative miosis.
{"title":"Cardiovascular effects of diluted intracameral combination of 0.02% tropicamide, 0.31% phenylephrine, and 1% lidocaine during phacoemulsification to manage intraoperative miosis","authors":"A. Ghai, Jatinder Bali, Nikita Sethi, Surakshya Rajaure, Salman Sarkar","doi":"10.4103/tjo.tjo-d-23-00015","DOIUrl":"https://doi.org/10.4103/tjo.tjo-d-23-00015","url":null,"abstract":"\u0000 \u0000 \u0000 Intracameral mydriatic agents (ICMAs) are replacing the conventional method of topical mydriasis for its fast action and no need for repeated instillation before cataract surgery. Its application for the management of intraoperative miosis needs to be studied with different doses of mydriatic agent. The objective of the study is to study cardiovascular effects of diluted intracameral combination of 0.02% tropicamide, 0.31% phenylephrine, and 1% lidocaine during phacoemulsification to manage intraoperative miosis.\u0000 \u0000 \u0000 \u0000 The study was conducted at Mojiram Lions Eye Hospital Akbarpur Majra village, Palla Bakhtawarpur Road, Delhi, during the year 2021–2022 after taking approval from the Ethical Committee of the hospital. Patients undergoing cataract surgery who were not dilated adequately during the preoperative period or developed intraoperative miosis were managed by injecting diluted intracameral combination of 0.02% tropicamide, 0.31% phenylephrine, and 1% lidocaine (phenocaine plus). 0.5 ml of phenocaine plus was diluted with 1.5 ml of ringer lactate solution and 0.50 ml of this solution was injected intracameral and its effect on pulse rate, blood pressure (BP), and oxygen saturation were monitored continuously on pulse oximeter.\u0000 \u0000 \u0000 \u0000 There was no statistically significant effect of diluted ICMA (Phenocaine Plus) on diastolic BP and oxygen saturation. However, systolic BP showed a little change from mean of 133.78 (standard deviation [SD] =16.04) mmHg to 133.92 (SD = 15.33) mmHg which was statistically significant but clinically not significant. Pulse rate increased slightly from mean 76.46 per minutes (SD = 15.14) to 79.40 (SD = 14.95) at 10 s and 76.49 (SD = 15.15) at 60 s. The difference was again statistically significant but clinically insignificant.\u0000 \u0000 \u0000 \u0000 Low concentration of intracameral combination of 0.02% tropicamide, 0.31% phenylephrine, and 1% lidocaine is a very safe and effective method for the management of intraoperative miosis.\u0000","PeriodicalId":44978,"journal":{"name":"Taiwan Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138996714","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}
Pub Date : 2023-10-20DOI: 10.4103/tjo.tjo-d-23-00065
Arpita Khasnavis, Merle Fernandes
Abstract Peters anomaly (PA) is a rare, often bilateral, congenital corneal opacity, usually with a sporadic inheritance pattern, characterized by corneal opacities and irido-corneal or lenticular-corneal adhesions with a defect in the Descemet’s membrane, occurring due to anterior segment dysgenesis during fetal development. Due to other ocular and systemic comorbidities, a team comprising pediatric cornea, glaucoma, and strabismus specialists in addition to a pediatrician and geneticist is necessary for the appropriate management of these children. Since the outcome of pediatric penetrating keratoplasty is variable and has a higher chance of failure when accompanied by additional procedures, such as lensectomy and vitrectomy, minimally invasive alternatives are increasingly being offered to these patients. Of note is the recently reported novel procedure: selective endothelialectomy for PA, which avoids the need for a corneal transplant and results in gradual clearing of the corneal opacity over time. In this overview, we aimed to describe the etiology, classification, pathophysiology, histopathology, clinical features, and management of PA.
{"title":"Peters anomaly: An overview","authors":"Arpita Khasnavis, Merle Fernandes","doi":"10.4103/tjo.tjo-d-23-00065","DOIUrl":"https://doi.org/10.4103/tjo.tjo-d-23-00065","url":null,"abstract":"Abstract Peters anomaly (PA) is a rare, often bilateral, congenital corneal opacity, usually with a sporadic inheritance pattern, characterized by corneal opacities and irido-corneal or lenticular-corneal adhesions with a defect in the Descemet’s membrane, occurring due to anterior segment dysgenesis during fetal development. Due to other ocular and systemic comorbidities, a team comprising pediatric cornea, glaucoma, and strabismus specialists in addition to a pediatrician and geneticist is necessary for the appropriate management of these children. Since the outcome of pediatric penetrating keratoplasty is variable and has a higher chance of failure when accompanied by additional procedures, such as lensectomy and vitrectomy, minimally invasive alternatives are increasingly being offered to these patients. Of note is the recently reported novel procedure: selective endothelialectomy for PA, which avoids the need for a corneal transplant and results in gradual clearing of the corneal opacity over time. In this overview, we aimed to describe the etiology, classification, pathophysiology, histopathology, clinical features, and management of PA.","PeriodicalId":44978,"journal":{"name":"Taiwan Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135570040","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}
Pub Date : 2023-10-20DOI: 10.4103/tjo.tjo-d-23-00096
Sofia Ahsanuddin, Albert Y. Wu
Abstract Thyroid eye disease (TED) is a poorly understood autoimmune condition affecting the retroorbital tissue. Tissue inflammation, expansion, and fibrosis can potentially lead to debilitating sequelae such as vision loss, painful eye movement, proptosis, and eyelid retraction. Current treatment modalities for TED include systemic glucocorticoids, thioamides, methimazole, teprotumumab, beta-blockers, and radioactive iodine; however, it has been reported that up to 10%–20% of TED patients relapse after treatment withdrawal and 20%–30% are unresponsive to mainstay therapy for reasons that have yet to be more clearly elucidated. In the past 4 years, vision researchers have harnessed high-throughput single-cell RNA sequencing to elucidate the diversity of cell types and molecular mechanisms driving the pathogenesis of TED at single-cell resolution. Such studies have provided unprecedented insight regarding novel biomarkers and therapeutic targets in TED. This timely review summarizes recent breakthroughs and emerging opportunities for using single-cell and single-nuclei transcriptomic data to characterize this highly complex disease state. We also provide an overview of current challenges and future applications of this technology to potentially improve patient quality of life and facilitate reversal of disease endpoints.
{"title":"Single-cell transcriptomics in thyroid eye disease","authors":"Sofia Ahsanuddin, Albert Y. Wu","doi":"10.4103/tjo.tjo-d-23-00096","DOIUrl":"https://doi.org/10.4103/tjo.tjo-d-23-00096","url":null,"abstract":"Abstract Thyroid eye disease (TED) is a poorly understood autoimmune condition affecting the retroorbital tissue. Tissue inflammation, expansion, and fibrosis can potentially lead to debilitating sequelae such as vision loss, painful eye movement, proptosis, and eyelid retraction. Current treatment modalities for TED include systemic glucocorticoids, thioamides, methimazole, teprotumumab, beta-blockers, and radioactive iodine; however, it has been reported that up to 10%–20% of TED patients relapse after treatment withdrawal and 20%–30% are unresponsive to mainstay therapy for reasons that have yet to be more clearly elucidated. In the past 4 years, vision researchers have harnessed high-throughput single-cell RNA sequencing to elucidate the diversity of cell types and molecular mechanisms driving the pathogenesis of TED at single-cell resolution. Such studies have provided unprecedented insight regarding novel biomarkers and therapeutic targets in TED. This timely review summarizes recent breakthroughs and emerging opportunities for using single-cell and single-nuclei transcriptomic data to characterize this highly complex disease state. We also provide an overview of current challenges and future applications of this technology to potentially improve patient quality of life and facilitate reversal of disease endpoints.","PeriodicalId":44978,"journal":{"name":"Taiwan Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135570041","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}
Pub Date : 2023-10-19DOI: 10.4103/tjo.tjo-d-23-00104
Anil Kumar Mandal, Debasis Chakrabarti, Vijaya K. Gothwal
Abstract: Primary congenital glaucoma (PCG) occurs worldwide and has a broad range of ocular manifestations. It poses a therapeutic challenge to the ophthalmologist. A proper diagnostic evaluation under anesthesia is advisable for all children who do not cooperate for an office examination. Medical therapy only serves as a supportive role, and surgical intervention remains the principal therapeutic modality. Angle incision surgery such as goniotomy or trabeculotomy ab externo is the preferred choice of surgery in the Caucasian population. Primary combined trabeculotomy-trabeculectomy with or without antifibrotic therapy is the preferred choice in certain regions such as India and the Middle East where the disease usually presents with severe forms of corneal edema along with megalocornea. In refractory cases, trabeculectomy with antifibrotic therapy or glaucoma drainage devices are available options in the armamentarium. Cycloablative procedures should be reserved for eyes with poor visual potential. Myopia is common among children with PCG, and appropriate optical refractive correction in the form of glasses or contact lenses should be provided. Amblyopia therapy should be instituted to ensure overall visual development in the early developmental years. Low-vision rehabilitation services should be provided to children with vision impairment. Long-term follow-up is mandatory and carers of children with PCG should be counseled and educated about this need. Regardless of the visual outcomes, clinicians should emphasize the need for education of these children during the clinic visit. The overall goal of the management should be to improve the overall quality of life of the children with PCG and their carers.
{"title":"Approach to primary congenital glaucoma: A perspective","authors":"Anil Kumar Mandal, Debasis Chakrabarti, Vijaya K. Gothwal","doi":"10.4103/tjo.tjo-d-23-00104","DOIUrl":"https://doi.org/10.4103/tjo.tjo-d-23-00104","url":null,"abstract":"Abstract: Primary congenital glaucoma (PCG) occurs worldwide and has a broad range of ocular manifestations. It poses a therapeutic challenge to the ophthalmologist. A proper diagnostic evaluation under anesthesia is advisable for all children who do not cooperate for an office examination. Medical therapy only serves as a supportive role, and surgical intervention remains the principal therapeutic modality. Angle incision surgery such as goniotomy or trabeculotomy ab externo is the preferred choice of surgery in the Caucasian population. Primary combined trabeculotomy-trabeculectomy with or without antifibrotic therapy is the preferred choice in certain regions such as India and the Middle East where the disease usually presents with severe forms of corneal edema along with megalocornea. In refractory cases, trabeculectomy with antifibrotic therapy or glaucoma drainage devices are available options in the armamentarium. Cycloablative procedures should be reserved for eyes with poor visual potential. Myopia is common among children with PCG, and appropriate optical refractive correction in the form of glasses or contact lenses should be provided. Amblyopia therapy should be instituted to ensure overall visual development in the early developmental years. Low-vision rehabilitation services should be provided to children with vision impairment. Long-term follow-up is mandatory and carers of children with PCG should be counseled and educated about this need. Regardless of the visual outcomes, clinicians should emphasize the need for education of these children during the clinic visit. The overall goal of the management should be to improve the overall quality of life of the children with PCG and their carers.","PeriodicalId":44978,"journal":{"name":"Taiwan Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135778625","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}
Pub Date : 2023-10-18DOI: 10.4103/tjo.tjo-d-23-00025
Debdulal Chakraborty, Soumen Mondal, Sabyasachi Sengupta, Subhendu Boral, Arnab Das
Abstract: Closure rate of full-thickness macular holes (FTMHs) with basal diameter >1000 μ is known to be poor. Patients presenting with FTMH having a minimum basal diameter of >1000 μ without any coexistent retinal morbidity were offered vitrectomy, internal limiting membrane peeling, retinal massage, and aspiration of subretinal fluid from the MH. Visual acuity (VA) and spectral-domain optical coherence tomography (SD OCT) assessments were performed at baseline, week 1 after surgery and at postoperative months 1, 3, 6, and 12. VA, type of hole closure, presence of ellipsoid zone, and external limiting membrane defect were monitored. The primary endpoint was type 1 anatomical hole closure. Secondary outcome measure was a change in VA from baseline to 6-month follow-up and persistent hole closure at the final follow-up of 12 months. The mean age was 67.1 ± 9.1 years. Seven eyes were pseudophakic, and two underwent combined phacoemulsification with MH surgery. The mean minimum basal diameter of FTMH was 1162.4 ± 161 μ. The mean duration of visual loss was 11.3 ± 1.93 months. Type 1 closure of FTMH was seen in all patients on SD OCT, on the 7 th postoperative day. The mean presenting VA was 1.06 ± 0.1 Logarithm of the minimum angle of resolution (logMAR). Best-corrected visual acuity improved to 0.91 ± 0.09 logMAR at 1-month follow-up ( P = 0.005) (95% confidence interval [CI]: 0.061–0.251), 0.63 ± 0.1 logMAR ( P < 0.001) (95% CI 0.339–0.527) at 3 months, and 0.55 ± 0.05 logMAR ( P < 0.001) (95% CI 0.414–0.609) at 6 months. All holes were found closed at the final follow-up of 12 months. This novel technique can help achieve better outcomes and raise the primary anatomical success rate of FTMH with basal diameter >1000 μ.
{"title":"Novel surgical technique for macular holes with basal diameter >1000 μ","authors":"Debdulal Chakraborty, Soumen Mondal, Sabyasachi Sengupta, Subhendu Boral, Arnab Das","doi":"10.4103/tjo.tjo-d-23-00025","DOIUrl":"https://doi.org/10.4103/tjo.tjo-d-23-00025","url":null,"abstract":"Abstract: Closure rate of full-thickness macular holes (FTMHs) with basal diameter >1000 μ is known to be poor. Patients presenting with FTMH having a minimum basal diameter of >1000 μ without any coexistent retinal morbidity were offered vitrectomy, internal limiting membrane peeling, retinal massage, and aspiration of subretinal fluid from the MH. Visual acuity (VA) and spectral-domain optical coherence tomography (SD OCT) assessments were performed at baseline, week 1 after surgery and at postoperative months 1, 3, 6, and 12. VA, type of hole closure, presence of ellipsoid zone, and external limiting membrane defect were monitored. The primary endpoint was type 1 anatomical hole closure. Secondary outcome measure was a change in VA from baseline to 6-month follow-up and persistent hole closure at the final follow-up of 12 months. The mean age was 67.1 ± 9.1 years. Seven eyes were pseudophakic, and two underwent combined phacoemulsification with MH surgery. The mean minimum basal diameter of FTMH was 1162.4 ± 161 μ. The mean duration of visual loss was 11.3 ± 1.93 months. Type 1 closure of FTMH was seen in all patients on SD OCT, on the 7 th postoperative day. The mean presenting VA was 1.06 ± 0.1 Logarithm of the minimum angle of resolution (logMAR). Best-corrected visual acuity improved to 0.91 ± 0.09 logMAR at 1-month follow-up ( P = 0.005) (95% confidence interval [CI]: 0.061–0.251), 0.63 ± 0.1 logMAR ( P < 0.001) (95% CI 0.339–0.527) at 3 months, and 0.55 ± 0.05 logMAR ( P < 0.001) (95% CI 0.414–0.609) at 6 months. All holes were found closed at the final follow-up of 12 months. This novel technique can help achieve better outcomes and raise the primary anatomical success rate of FTMH with basal diameter >1000 μ.","PeriodicalId":44978,"journal":{"name":"Taiwan Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135887984","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}
Abstract The basic pathophysiology of all childhood glaucoma results from impaired outflow through the trabecular meshwork. Anterior Segment Dysgeneses (ASD) are a group of nonacquired anomalies associated with secondary developmental glaucoma, characterized by impaired development of the structures of the anterior segment. Many genes impact the development of the anterior segment. The cause of the development of the abnormalities is thought to be multifactorial. Molecular research has helped our understanding of the molecular basis of ASD and the developmental mechanisms underlying these conditions. Identifying the genetic changes underlying ASD has gradually led to the recognition that some of these conditions may be parts of a disease spectrum rather than isolated anomalies. The characterization of the underlying genetic abnormalities responsible for glaucoma is the first step toward developing diagnostic and screening tests, which could identify individuals at risk for disease before irreversible optic nerve damage occurs. It is also crucial for genetic counseling and risk stratification of later pregnancies. It also aids prenatal testing by various methods allowing for effective genetic counseling. This review summarizes various ocular and systemic conditions that result in secondary developmental glaucoma and provide an overview of the phenotypes, the diagnosis and principles of management of the various disorders.
{"title":"Secondary developmental glaucoma","authors":"Sushmita Kaushik, Jyoti Singh, Surinder Singh Pandav","doi":"10.4103/tjo.tjo-d-23-00064","DOIUrl":"https://doi.org/10.4103/tjo.tjo-d-23-00064","url":null,"abstract":"Abstract The basic pathophysiology of all childhood glaucoma results from impaired outflow through the trabecular meshwork. Anterior Segment Dysgeneses (ASD) are a group of nonacquired anomalies associated with secondary developmental glaucoma, characterized by impaired development of the structures of the anterior segment. Many genes impact the development of the anterior segment. The cause of the development of the abnormalities is thought to be multifactorial. Molecular research has helped our understanding of the molecular basis of ASD and the developmental mechanisms underlying these conditions. Identifying the genetic changes underlying ASD has gradually led to the recognition that some of these conditions may be parts of a disease spectrum rather than isolated anomalies. The characterization of the underlying genetic abnormalities responsible for glaucoma is the first step toward developing diagnostic and screening tests, which could identify individuals at risk for disease before irreversible optic nerve damage occurs. It is also crucial for genetic counseling and risk stratification of later pregnancies. It also aids prenatal testing by various methods allowing for effective genetic counseling. This review summarizes various ocular and systemic conditions that result in secondary developmental glaucoma and provide an overview of the phenotypes, the diagnosis and principles of management of the various disorders.","PeriodicalId":44978,"journal":{"name":"Taiwan Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136142100","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}
Pub Date : 2023-09-22eCollection Date: 2023-10-01DOI: 10.4103/tjo.TJO-D-22-00183
Thiago Gonçalves Dos Santos Martins
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