Pub Date : 2024-10-11DOI: 10.3760/cma.j.issn.0412-4081-20240329-00149
F Guo, Q F Liang
Microsporidia, a unicellular eukaryotic microorganism, poses a risk of infecting the eyes, precipitating microsporidia keratitis (MK). This condition typically manifests in two forms: microsporidian keratoconjunctivitis (MKC) or stromal keratitis (MSK). While MKC often resolves spontaneously, it can progress to MSK, a vision-threatening condition that, in severe instances, may lead to corneal perforation. Epidemiological studies reveal that MK is prevalent in Southeast Asia, particularly during the rainy season. Diagnosis encompasses a range of methods, including corneal scraping for microbiological analysis, PCR testing, and advanced imaging techniques such as AS-OCT and IVCM. Therapeutic approaches vary, with MKC typically managed through local and systemic drug therapy, while MSK may necessitate more aggressive interventions, including corneal transplantation. In China, MK case reports are scarce, and physicians still grapple with a lack of comprehensive understanding regarding its clinical presentation, diagnostic strategies, and treatment options. This deficit can lead to missed or misdiagnoses, as well as overtreatment. Consequently, this review endeavors to comprehensively outline the epidemiology, etiology, clinical features, diagnostic modalities, and therapeutic interventions for MK, thereby offering valuable insights and guidance for clinical practice.
{"title":"[Advances in clinical diagnosis and treatment of microsporidial keratitis].","authors":"F Guo, Q F Liang","doi":"10.3760/cma.j.issn.0412-4081-20240329-00149","DOIUrl":"https://doi.org/10.3760/cma.j.issn.0412-4081-20240329-00149","url":null,"abstract":"<p><p>Microsporidia, a unicellular eukaryotic microorganism, poses a risk of infecting the eyes, precipitating microsporidia keratitis (MK). This condition typically manifests in two forms: microsporidian keratoconjunctivitis (MKC) or stromal keratitis (MSK). While MKC often resolves spontaneously, it can progress to MSK, a vision-threatening condition that, in severe instances, may lead to corneal perforation. Epidemiological studies reveal that MK is prevalent in Southeast Asia, particularly during the rainy season. Diagnosis encompasses a range of methods, including corneal scraping for microbiological analysis, PCR testing, and advanced imaging techniques such as AS-OCT and IVCM. Therapeutic approaches vary, with MKC typically managed through local and systemic drug therapy, while MSK may necessitate more aggressive interventions, including corneal transplantation. In China, MK case reports are scarce, and physicians still grapple with a lack of comprehensive understanding regarding its clinical presentation, diagnostic strategies, and treatment options. This deficit can lead to missed or misdiagnoses, as well as overtreatment. Consequently, this review endeavors to comprehensively outline the epidemiology, etiology, clinical features, diagnostic modalities, and therapeutic interventions for MK, thereby offering valuable insights and guidance for clinical practice.</p>","PeriodicalId":39688,"journal":{"name":"中华眼科杂志","volume":"60 10","pages":"854-859"},"PeriodicalIF":0.0,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142394076","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 : 2024-10-11DOI: 10.3760/cma.j.cn112142-20240513-00225
Y Q Chen, Y H Yao, Q Ye, X H Wang, Y Lin, Y H Zhu
Objective: To evaluate the long-term efficacy and safety of XEN gel stent implantation in patients with refractory glaucoma. Methods: A retrospective case series study was conducted. Clinical data were collected from patients who received medical treatment at the First Affiliated Hospital of Fujian Medical University between January 2020 and September 2020 and underwent XEN gel stent implantation by the same surgeon. Preoperative and postoperative clinical parameters, including the intraocular pressure (IOP), number of ocular hypotensive medications, best-corrected visual acuity, surgical success rates, status of filtering blebs, and complications, were recorded at 1 day, 1 week, 1, 2, 3, 6, 12, 18, 24, and 36 months after surgery. Statistical analyses were performed using the analysis of variance (ANOVA), the least significant difference (LSD) method, and the Fisher's precision probability test. Results: A total of 8 patients (8 eyes) with glaucoma meeting the criteria were included, consisting of 6 males (6 eyes) and 2 females (2 eyes). The preoperative IOP reached (30.88±12.17) mmHg (1 mmHg=0.133 kPa), and the IOP at all postoperative follow-up time points was significantly lower than the preoperative value (P<0.05). At 3 years after surgery, the IOP was (14.38±1.60) mmHg, with a reduction of 53.43% [(16.50±12.07) mmHg]. Only 2 patients required monotherapy for IOP control, and there was no significant decline in best-corrected visual acuity in 7 patients. The surgical outcome at 3 years postoperatively was a complete success in 6 patients, a qualified success in 1 patient, and a failure in 1 patient. The filtering blebs were generally flat and diffuse, with only mild to moderate vascularization. One patient presented elevated IOP at 3 months, and after a subsequent revision of the XEN gel stent, the IOP became stable with the administration of travoprost eye drops. Conclusion: The XEN gel stent implantation proved to effectively reduce the IOP in glaucoma patients, with a high degree of safety demonstrated up to 3-year long-term follow-up.
{"title":"[Three-year results of XEN gel stent implantation in the treatment of glaucoma].","authors":"Y Q Chen, Y H Yao, Q Ye, X H Wang, Y Lin, Y H Zhu","doi":"10.3760/cma.j.cn112142-20240513-00225","DOIUrl":"https://doi.org/10.3760/cma.j.cn112142-20240513-00225","url":null,"abstract":"<p><p><b>Objective:</b> To evaluate the long-term efficacy and safety of XEN gel stent implantation in patients with refractory glaucoma. <b>Methods:</b> A retrospective case series study was conducted. Clinical data were collected from patients who received medical treatment at the First Affiliated Hospital of Fujian Medical University between January 2020 and September 2020 and underwent XEN gel stent implantation by the same surgeon. Preoperative and postoperative clinical parameters, including the intraocular pressure (IOP), number of ocular hypotensive medications, best-corrected visual acuity, surgical success rates, status of filtering blebs, and complications, were recorded at 1 day, 1 week, 1, 2, 3, 6, 12, 18, 24, and 36 months after surgery. Statistical analyses were performed using the analysis of variance (ANOVA), the least significant difference (LSD) method, and the Fisher's precision probability test. <b>Results:</b> A total of 8 patients (8 eyes) with glaucoma meeting the criteria were included, consisting of 6 males (6 eyes) and 2 females (2 eyes). The preoperative IOP reached (30.88±12.17) mmHg (1 mmHg=0.133 kPa), and the IOP at all postoperative follow-up time points was significantly lower than the preoperative value (<i>P</i><0.05). At 3 years after surgery, the IOP was (14.38±1.60) mmHg, with a reduction of 53.43% [(16.50±12.07) mmHg]. Only 2 patients required monotherapy for IOP control, and there was no significant decline in best-corrected visual acuity in 7 patients. The surgical outcome at 3 years postoperatively was a complete success in 6 patients, a qualified success in 1 patient, and a failure in 1 patient. The filtering blebs were generally flat and diffuse, with only mild to moderate vascularization. One patient presented elevated IOP at 3 months, and after a subsequent revision of the XEN gel stent, the IOP became stable with the administration of travoprost eye drops. <b>Conclusion:</b> The XEN gel stent implantation proved to effectively reduce the IOP in glaucoma patients, with a high degree of safety demonstrated up to 3-year long-term follow-up.</p>","PeriodicalId":39688,"journal":{"name":"中华眼科杂志","volume":"60 10","pages":"845-851"},"PeriodicalIF":0.0,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142394092","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 : 2024-10-11DOI: 10.3760/cma.j.cn112142-20240506-00205
J P Xue, L Cheng, J Shen, S R Chen, C Z Yang
Objective: To compare and analyze the ophthalmic resources and service ability in Shanxi Province in 2014 and 2021, and to provide reference for the development planning of ophthalmology and eye care. Methods: In this cross-sectional study, a questionnaire survey was conducted among all ophthalmic institutions registered in the health administrative department in 11 cities of Shanxi Province by the end of 2014 and 2021 by using the National Ophthalmology Competency Resource Questionnaire (compiled by the Medical Administration and Hospital Authority of the National Health and Wellness Commission). The basic situations of ophthalmic institutions in 2014 and 2021, as well as the human resources, ophthalmic equipment configuration, technology and medical service capabilities, were recorded and compared. The chi-square test was used for statistical analysis. Results: A total of 270 questionnaires for 2014 were collected from 270 ophthalmic institutions, and 292 questionnaires for 2021 from 292 ophthalmic institutions. The institution categories in 2014 (197 general hospitals, 31 eye hospitals and 42 others) were statistically different from those in 2021 (182 general hospitals, 45 eye hospitals and 65 others) (P<0.05). The proportion of doctors with senior titles in ophthalmic institutions increased from 25.5% (346/1 358) in 2014 to 41.7% (580/1 391) in 2021, the proportion of senior technicians increased from 9.4% (14/148) to 25.3% (110/435), the proportion of doctors with junior titles decreased from 42.1% (572/1 358) to 26.5% (369/1 391), and the proportion of junior technicians decreased from 45.3% (67/148) to 39.1% (170/435). There was a significant difference in the distribution of professional titles between doctors and technicians in ophthalmic institutions (P<0.05). The number of doctors (130 to 28), nurses (152 to 50), technicians (33 to 11) and full-time optometrists (44 to 12) in the first-class ophthalmic institutions decreased, the increase of equipment with the ophthalmic A-ultrasound scan system, fundus camera and coherent optical tomography system (35.1%, 28.9% and 25.4%; P<0.05) ranked the top three, and the increase of performing the phacoemulsification procedure, intraocular lens implantation, intravitreal injection and iris surgery (30.2%, 24.7% and 20.7%; P<0.05) ranked the top three in 2021 as compared to 2014. Conclusions: The resources and service ability of ophthalmology in Shanxi Province developed in 2021 in comparison with 2014. However, there were some problems, such as changes in the type and structure of eye institutions, unreasonable proportions of professional titles, insufficient human resources in primary ophthalmic institutions, and slow improvement in the allocation of ophthalmology equipment and technical capabilities.
{"title":"[Comparison and analysis of ophthalmic resources and service ability in Shanxi Province in 2014 and 2021].","authors":"J P Xue, L Cheng, J Shen, S R Chen, C Z Yang","doi":"10.3760/cma.j.cn112142-20240506-00205","DOIUrl":"https://doi.org/10.3760/cma.j.cn112142-20240506-00205","url":null,"abstract":"<p><p><b>Objective:</b> To compare and analyze the ophthalmic resources and service ability in Shanxi Province in 2014 and 2021, and to provide reference for the development planning of ophthalmology and eye care. <b>Methods:</b> In this cross-sectional study, a questionnaire survey was conducted among all ophthalmic institutions registered in the health administrative department in 11 cities of Shanxi Province by the end of 2014 and 2021 by using the National Ophthalmology Competency Resource Questionnaire (compiled by the Medical Administration and Hospital Authority of the National Health and Wellness Commission). The basic situations of ophthalmic institutions in 2014 and 2021, as well as the human resources, ophthalmic equipment configuration, technology and medical service capabilities, were recorded and compared. The chi-square test was used for statistical analysis. <b>Results:</b> A total of 270 questionnaires for 2014 were collected from 270 ophthalmic institutions, and 292 questionnaires for 2021 from 292 ophthalmic institutions. The institution categories in 2014 (197 general hospitals, 31 eye hospitals and 42 others) were statistically different from those in 2021 (182 general hospitals, 45 eye hospitals and 65 others) (<i>P</i><0.05). The proportion of doctors with senior titles in ophthalmic institutions increased from 25.5% (346/1 358) in 2014 to 41.7% (580/1 391) in 2021, the proportion of senior technicians increased from 9.4% (14/148) to 25.3% (110/435), the proportion of doctors with junior titles decreased from 42.1% (572/1 358) to 26.5% (369/1 391), and the proportion of junior technicians decreased from 45.3% (67/148) to 39.1% (170/435). There was a significant difference in the distribution of professional titles between doctors and technicians in ophthalmic institutions (<i>P</i><0.05). The number of doctors (130 to 28), nurses (152 to 50), technicians (33 to 11) and full-time optometrists (44 to 12) in the first-class ophthalmic institutions decreased, the increase of equipment with the ophthalmic A-ultrasound scan system, fundus camera and coherent optical tomography system (35.1%, 28.9% and 25.4%; <i>P</i><0.05) ranked the top three, and the increase of performing the phacoemulsification procedure, intraocular lens implantation, intravitreal injection and iris surgery (30.2%, 24.7% and 20.7%; <i>P</i><0.05) ranked the top three in 2021 as compared to 2014. <b>Conclusions:</b> The resources and service ability of ophthalmology in Shanxi Province developed in 2021 in comparison with 2014. However, there were some problems, such as changes in the type and structure of eye institutions, unreasonable proportions of professional titles, insufficient human resources in primary ophthalmic institutions, and slow improvement in the allocation of ophthalmology equipment and technical capabilities.</p>","PeriodicalId":39688,"journal":{"name":"中华眼科杂志","volume":"60 10","pages":"838-844"},"PeriodicalIF":0.0,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142394079","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 : 2024-10-11DOI: 10.3760/cma.j.cn112142-20240502-00203
X Y Liu, X H Sun
Glaucoma is a neural degenerative disease characterized by progressive loss of retinal ganglion cells, resulting in irreversible visual field loss, low vision, and total blindness. Despite the fact that the pathological elevation of intraocular pressure is a major risk factor for glaucoma, it is imperative to develop therapies that can prevent and block retinal ganglion cell injury and apoptosis in addition to reducing intraocular pressure. Drug therapy is the primary treatment for glaucoma in most clinical cases. This article provides reference information for the clinical treatment of glaucoma by summarizing and analyzing the medications that have direct optic nerve protection in clinical or preclinical trials, based on the most recent research results from both domestic and international studies.
{"title":"[Research progress of retinal neuroprotective drugs for glaucoma].","authors":"X Y Liu, X H Sun","doi":"10.3760/cma.j.cn112142-20240502-00203","DOIUrl":"10.3760/cma.j.cn112142-20240502-00203","url":null,"abstract":"<p><p>Glaucoma is a neural degenerative disease characterized by progressive loss of retinal ganglion cells, resulting in irreversible visual field loss, low vision, and total blindness. Despite the fact that the pathological elevation of intraocular pressure is a major risk factor for glaucoma, it is imperative to develop therapies that can prevent and block retinal ganglion cell injury and apoptosis in addition to reducing intraocular pressure. Drug therapy is the primary treatment for glaucoma in most clinical cases. This article provides reference information for the clinical treatment of glaucoma by summarizing and analyzing the medications that have direct optic nerve protection in clinical or preclinical trials, based on the most recent research results from both domestic and international studies.</p>","PeriodicalId":39688,"journal":{"name":"中华眼科杂志","volume":"60 10","pages":"860-869"},"PeriodicalIF":0.0,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142394090","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 : 2024-09-11DOI: 10.3760/cma.j.cn112142-20231103-00203
L Zhu, X L Shen, A Z Li, J T Wang
The regulation of blood flow in the human eye, aqueous humor production, and the outflow channels of aqueous humor are all controlled by the autonomic nervous system (ANS), encompassing both sympathetic and parasympathetic nerves. Patients with primary glaucoma often exhibit autonomic nervous system dysfunctions, which may exacerbate visual impairment. The homeostasis of the autonomic nervous system is influenced by circadian rhythms, physical exercise, emotional states, medications, and other factors. Previous studies have indicated that activities such as aerobic exercise, yoga breathing, and meditation can promote the restoration of autonomic nervous system balance, thereby reducing intraocular pressure. However, further evidence is required to substantiate the efficacy of ANS activity regulation as an effective adjunct therapy for primary glaucoma. This review examines the role and mechanisms of autonomic nervous system regulation in the context of primary glaucoma.
{"title":"[Role and mechanism of autonomic nervous system regulation in primary glaucoma].","authors":"L Zhu, X L Shen, A Z Li, J T Wang","doi":"10.3760/cma.j.cn112142-20231103-00203","DOIUrl":"https://doi.org/10.3760/cma.j.cn112142-20231103-00203","url":null,"abstract":"<p><p>The regulation of blood flow in the human eye, aqueous humor production, and the outflow channels of aqueous humor are all controlled by the autonomic nervous system (ANS), encompassing both sympathetic and parasympathetic nerves. Patients with primary glaucoma often exhibit autonomic nervous system dysfunctions, which may exacerbate visual impairment. The homeostasis of the autonomic nervous system is influenced by circadian rhythms, physical exercise, emotional states, medications, and other factors. Previous studies have indicated that activities such as aerobic exercise, yoga breathing, and meditation can promote the restoration of autonomic nervous system balance, thereby reducing intraocular pressure. However, further evidence is required to substantiate the efficacy of ANS activity regulation as an effective adjunct therapy for primary glaucoma. This review examines the role and mechanisms of autonomic nervous system regulation in the context of primary glaucoma.</p>","PeriodicalId":39688,"journal":{"name":"中华眼科杂志","volume":"60 9","pages":"780-786"},"PeriodicalIF":0.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142297721","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 : 2024-09-11DOI: 10.3760/cma.j.issn.cn112142-20240129-00053
Reyizha Mengjiang, J Yang, X Y Wen, J Y Fan
The patient is a 2-year-old male. The family consulted the Department of Ophthalmology, Shanghai Ninth People's Hospital, after noticing a white reflection in the pupil area of the child's right eye for 6 days. Following a thorough ocular and systemic examination, the patient was diagnosed with retinoblastoma (Group E, cT2bN0M0) of the right eye. The right eye was enucleated and classified as pathological stage pT3cN0M0. Postoperatively, systemic intravenous chemotherapy with the VEC regimen was administered. Genetic testing revealed a germline mutation in the RB1 gene: c.874 (exon9) delT (p.Tyr292fsTer9), necessitating close monitoring of the socket during follow-up visits. Three months after the operation, fundus examination revealed yellow-white lesions in the left eye, and bilateral retinoblastoma was diagnosed (Group E in the right eye, Group C in the left eye). Based on the ICRB and pTNM stages, the patient underwent six rounds of systemic intravenous chemotherapy and three rounds of cryotherapy in the left eye. No recurrence was detected with a 4-year follow-up. The patient was initially diagnosed with unilateral retinoblastoma, but later developed the disease in the contralateral eye during treatment, which was a case of metachronous bilateral retinoblastoma.
患者为 2 岁男性。家人发现孩子右眼瞳孔区出现白色反光已有 6 天,于是带孩子来到上海市第九人民医院眼科就诊。经过全面的眼部和全身检查,患者被诊断为右眼视网膜母细胞瘤(E组,cT2bN0M0)。右眼被切除,病理分期为 pT3cN0M0。术后,采用 VEC 方案进行了全身静脉化疗。基因检测发现 RB1 基因有一个种系突变:c.874 (exon9) delT (p.Tyr292fsTer9),因此需要在随访期间对眼窝进行密切监测。术后三个月,眼底检查发现左眼有黄白色病变,确诊为双侧视网膜母细胞瘤(右眼为 E 组,左眼为 C 组)。根据 ICRB 和 pTNM 分期,患者接受了六轮全身静脉化疗和三轮左眼冷冻治疗。4 年随访未发现复发。患者最初被诊断为单侧视网膜母细胞瘤,但后来在治疗过程中对侧眼睛也出现了这种疾病,这是一例前后相继的双侧视网膜母细胞瘤。
{"title":"[Metachronous bilateral retinoblastoma: a case report].","authors":"Reyizha Mengjiang, J Yang, X Y Wen, J Y Fan","doi":"10.3760/cma.j.issn.cn112142-20240129-00053","DOIUrl":"10.3760/cma.j.issn.cn112142-20240129-00053","url":null,"abstract":"<p><p>The patient is a 2-year-old male. The family consulted the Department of Ophthalmology, Shanghai Ninth People's Hospital, after noticing a white reflection in the pupil area of the child's right eye for 6 days. Following a thorough ocular and systemic examination, the patient was diagnosed with retinoblastoma (Group E, cT2bN0M0) of the right eye. The right eye was enucleated and classified as pathological stage pT3cN0M0. Postoperatively, systemic intravenous chemotherapy with the VEC regimen was administered. Genetic testing revealed a germline mutation in the RB1 gene: c.874 (exon9) delT (p.Tyr292fsTer9), necessitating close monitoring of the socket during follow-up visits. Three months after the operation, fundus examination revealed yellow-white lesions in the left eye, and bilateral retinoblastoma was diagnosed (Group E in the right eye, Group C in the left eye). Based on the ICRB and pTNM stages, the patient underwent six rounds of systemic intravenous chemotherapy and three rounds of cryotherapy in the left eye. No recurrence was detected with a 4-year follow-up. The patient was initially diagnosed with unilateral retinoblastoma, but later developed the disease in the contralateral eye during treatment, which was a case of metachronous bilateral retinoblastoma.</p>","PeriodicalId":39688,"journal":{"name":"中华眼科杂志","volume":"60 9","pages":"776-778"},"PeriodicalIF":0.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142297719","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 : 2024-09-11DOI: 10.3760/cma.j.cn112142-20231113-00230
L Li, G Y Zheng, J X Song, J F Yue, N Tan
Objective: To explore the clinical phenotypes and pathogenic gene variation characteristics of three Chinese Han ethnic families affected by Nance-Horan syndrome, a rare X-linked genetic disorder. Methods: A pedigree investigation study was conducted at the First Affiliated Hospital of Zhengzhou University, collecting clinical data from three Chinese Han families with Nance-Horan syndrome between February 2009 and September 2018. Detailed family histories, comprehensive ophthalmological and systemic examinations were documented. Pedigree charts were created, and genetic inheritance patterns were analyzed to preliminarily diagnose the probands and other affected individuals. Genomic DNA was extracted from peripheral blood samples of family members, and next-generation sequencing was used to screen for target gene variations, which were confirmed by Sanger sequencing. Pathogenicity of the genetic variants and their impact on three-dimensional protein structure were analyzed using MutationTaster and computer-aided protein modeling. Results: In Family 1, there are 5 patients, including 4 females (aged 42, 37, 9 and 7) and 1 males (aged 12). In Family 2, there are 5 patients, including 3 females (aged 54, 32 and 16) and 2 males (aged 26 and 9). In Family 3, there are 8 patients, including 5 females (aged 69, 42, 37, 35 and 14) and 3 males (aged 10, 7 and 4). All probands in the three families exhibited nuclear cataracts with typical congenital hereditary cataract features, but no noticeable abnormalities in facial appearance or teeth. Next-generation sequencing identified new variation sites in the NHS gene, specifically c.2519_2520del, exon3del, and c.3847C>T. These variations included nonsense mutation p.(Ser840*), exon deletion p.(?), and nonsense mutation p.(Gln1283*). Combined clinical and genetic sequencing results confirmed X-linked Nance-Horan syndrome in all three families. Bioinformatics analysis indicated these variation sites were pathogenic and resulted in abnormal three-dimensional protein structures, likely being the main cause of Nance-Horan syndrome. Conclusion: The majority of patients from the three Nance-Horan syndrome families studied were affected by congenital hereditary cataracts characterized by nuclear opacities.The NHS gene variations c.2519_2520del, exon3del, and c.3847C>T are newly identified pathogenic sites in Nance-Horan syndrome, reported for the first time across three different families.
{"title":"[Clinical and genetic characterization of three families with Nance-Horan syndrome caused by NHS gene mutations].","authors":"L Li, G Y Zheng, J X Song, J F Yue, N Tan","doi":"10.3760/cma.j.cn112142-20231113-00230","DOIUrl":"10.3760/cma.j.cn112142-20231113-00230","url":null,"abstract":"<p><p><b>Objective:</b> To explore the clinical phenotypes and pathogenic gene variation characteristics of three Chinese Han ethnic families affected by Nance-Horan syndrome, a rare X-linked genetic disorder. <b>Methods:</b> A pedigree investigation study was conducted at the First Affiliated Hospital of Zhengzhou University, collecting clinical data from three Chinese Han families with Nance-Horan syndrome between February 2009 and September 2018. Detailed family histories, comprehensive ophthalmological and systemic examinations were documented. Pedigree charts were created, and genetic inheritance patterns were analyzed to preliminarily diagnose the probands and other affected individuals. Genomic DNA was extracted from peripheral blood samples of family members, and next-generation sequencing was used to screen for target gene variations, which were confirmed by Sanger sequencing. Pathogenicity of the genetic variants and their impact on three-dimensional protein structure were analyzed using MutationTaster and computer-aided protein modeling. <b>Results:</b> In Family 1, there are 5 patients, including 4 females (aged 42, 37, 9 and 7) and 1 males (aged 12). In Family 2, there are 5 patients, including 3 females (aged 54, 32 and 16) and 2 males (aged 26 and 9). In Family 3, there are 8 patients, including 5 females (aged 69, 42, 37, 35 and 14) and 3 males (aged 10, 7 and 4). All probands in the three families exhibited nuclear cataracts with typical congenital hereditary cataract features, but no noticeable abnormalities in facial appearance or teeth. Next-generation sequencing identified new variation sites in the NHS gene, specifically c.2519_2520del, exon3del, and c.3847C>T. These variations included nonsense mutation p.(Ser840*), exon deletion p.(?), and nonsense mutation p.(Gln1283*). Combined clinical and genetic sequencing results confirmed X-linked Nance-Horan syndrome in all three families. Bioinformatics analysis indicated these variation sites were pathogenic and resulted in abnormal three-dimensional protein structures, likely being the main cause of Nance-Horan syndrome. <b>Conclusion:</b> The majority of patients from the three Nance-Horan syndrome families studied were affected by congenital hereditary cataracts characterized by nuclear opacities.The NHS gene variations c.2519_2520del, exon3del, and c.3847C>T are newly identified pathogenic sites in Nance-Horan syndrome, reported for the first time across three different families.</p>","PeriodicalId":39688,"journal":{"name":"中华眼科杂志","volume":"60 9","pages":"757-765"},"PeriodicalIF":0.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142297713","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 : 2024-09-11DOI: 10.3760/cma.j.issn.cn112142-20240410-00162
X Q Wang, R Song, J Ma, X P Liu
The patient is a 28-year-old male who presented with hemifield slide for 10 months following surgery for a large pituitary adenoma. A comprehensive ophthalmological examination and visual function tests were conducted, including best corrected visual acuity, visual field, stereopsis, accommodative convergence, Worth four-dot test, and prism cover test for quantifying strabismus, along with assessments using a depression scale and a visual function questionnaire. Rehabilitation plans included applying press-on prisms to correct vertical strabismus, binocular vision training, and saccadic training. After rehabilitation, the patient was able to maintain binocular single vision at near and intermediate distances, experienced improved visual comfort, and showed significant improvements in scores on the depression scale and visual function questionnaire.
{"title":"[Visual rehabilitation treatment for a patient with hemifield slide after pituitary adenoma resection: a case report].","authors":"X Q Wang, R Song, J Ma, X P Liu","doi":"10.3760/cma.j.issn.cn112142-20240410-00162","DOIUrl":"10.3760/cma.j.issn.cn112142-20240410-00162","url":null,"abstract":"<p><p>The patient is a 28-year-old male who presented with hemifield slide for 10 months following surgery for a large pituitary adenoma. A comprehensive ophthalmological examination and visual function tests were conducted, including best corrected visual acuity, visual field, stereopsis, accommodative convergence, Worth four-dot test, and prism cover test for quantifying strabismus, along with assessments using a depression scale and a visual function questionnaire. Rehabilitation plans included applying press-on prisms to correct vertical strabismus, binocular vision training, and saccadic training. After rehabilitation, the patient was able to maintain binocular single vision at near and intermediate distances, experienced improved visual comfort, and showed significant improvements in scores on the depression scale and visual function questionnaire.</p>","PeriodicalId":39688,"journal":{"name":"中华眼科杂志","volume":"60 9","pages":"773-775"},"PeriodicalIF":0.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142297722","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 : 2024-09-11DOI: 10.3760/cma.j.cn112142-20231223-00304
B Zhang, X L Shen, X P Wang, D Gong, J H Guo, J T Wang
<p><p><b>Objective:</b> To evaluate the efficacy and safety of internal XEN gel stent implantation or combined with phacoemusification and intraocular lens (IOL) implantation in the treatment of glaucoma. <b>Methods:</b> It was a retrospective case series study. Forty-five patients (28 males and 17 females; 52 eyes) who had different types of glaucoma treated at the Shenzhen Eye Hospital from December 2021 to June 2023 were included. XEN gel stent implantation (the XEN group) or XEN implantation combined with phacoemusification and IOL implantation (the combined group) were performed in these patients. The postoperative follow-up was 18 months. The observational indexes included the best corrected visual acuity (recorded as the logarithm of the minimum angle of resolution), intraocular pressure (IOP), XEN implantation quadrant, number of IOP-lowering medications, corneal endothelial cell count, operation success rate and surgical complications. The one-way repeated measures of variance, LSD-<i>t</i> test, and rank sum test were used for statistical analysis. <b>Results:</b> There were 28 patients (33 eyes) in the XEN group and 17 patients (19 eyes) in the combined group. The postoperative best corrected visual acuity had no significant change in the XEN group, but improved significantly (0.21±0.30 at 6 months; <i>P</i><0.05) in the combined group, compared with the preoperative value. The IOP of the two groups at 18 months after surgery [(12.2±3.1) and (11.9±3.9) mmHg (1 mmHg=0.133 kPa)] was significantly lower than that before surgery [(22.1±8.5) and (19.4±10.2) mmHg; <i>P</i><0.05]. The average number of IOP-lowering medications in all patients was 3 (2, 3) before surgery and 0 (0, 0) at 18 months after surgery. The difference was statistically significant (<i>P</i><0.05). In the XEN group, the corneal endothelial cell count was (2 387.37±478.22) cells/mm² preoperatively and (2 193.89±311.96) cells/mm² at 12 months. The decrease showed no statistical significance. The XEN gel stent was implanted in the supranasal quadrant in 8 eyes (15.4%), in the inferonasal quadrant in 36 eyes (69.2%), and in the infratemporal quadrant in 8 eyes (15.4%). The operation success rate [complete success rate, 86.5% (45/52); conditional success rate, 9.6% (5/52)] was 96.2% (50/52). The filtering bleb scarring occurred in 9.6% (5/52) of eyes. A small amount of hyphema, postoperative shallow anterior chamber, transient hypertension, and intraoperative drain breakage were found in 7.7% (4/52) of eyes, respectively. A small amount of subconjunctival bleeding was observed in 5.8%(3/52) of eyes. Re-implantation of an XEN gel stent was performed in 5.8% (3/52) of eyes. The intraoperative conjunctival tissue rupture, hypotony macular edema, and drain exposure were observed in 1.9% (1/52) of eyes, respectively. <b>Conclusion:</b> The XEN gel stent implantation or combined with phacoemusification and IOL implantation was effective and safe in treating different types of glau
{"title":"[Clinical effect of XEN gel stent implantation or combined with phacoemusification and intraocular lens implantation on glaucoma].","authors":"B Zhang, X L Shen, X P Wang, D Gong, J H Guo, J T Wang","doi":"10.3760/cma.j.cn112142-20231223-00304","DOIUrl":"https://doi.org/10.3760/cma.j.cn112142-20231223-00304","url":null,"abstract":"<p><p><b>Objective:</b> To evaluate the efficacy and safety of internal XEN gel stent implantation or combined with phacoemusification and intraocular lens (IOL) implantation in the treatment of glaucoma. <b>Methods:</b> It was a retrospective case series study. Forty-five patients (28 males and 17 females; 52 eyes) who had different types of glaucoma treated at the Shenzhen Eye Hospital from December 2021 to June 2023 were included. XEN gel stent implantation (the XEN group) or XEN implantation combined with phacoemusification and IOL implantation (the combined group) were performed in these patients. The postoperative follow-up was 18 months. The observational indexes included the best corrected visual acuity (recorded as the logarithm of the minimum angle of resolution), intraocular pressure (IOP), XEN implantation quadrant, number of IOP-lowering medications, corneal endothelial cell count, operation success rate and surgical complications. The one-way repeated measures of variance, LSD-<i>t</i> test, and rank sum test were used for statistical analysis. <b>Results:</b> There were 28 patients (33 eyes) in the XEN group and 17 patients (19 eyes) in the combined group. The postoperative best corrected visual acuity had no significant change in the XEN group, but improved significantly (0.21±0.30 at 6 months; <i>P</i><0.05) in the combined group, compared with the preoperative value. The IOP of the two groups at 18 months after surgery [(12.2±3.1) and (11.9±3.9) mmHg (1 mmHg=0.133 kPa)] was significantly lower than that before surgery [(22.1±8.5) and (19.4±10.2) mmHg; <i>P</i><0.05]. The average number of IOP-lowering medications in all patients was 3 (2, 3) before surgery and 0 (0, 0) at 18 months after surgery. The difference was statistically significant (<i>P</i><0.05). In the XEN group, the corneal endothelial cell count was (2 387.37±478.22) cells/mm² preoperatively and (2 193.89±311.96) cells/mm² at 12 months. The decrease showed no statistical significance. The XEN gel stent was implanted in the supranasal quadrant in 8 eyes (15.4%), in the inferonasal quadrant in 36 eyes (69.2%), and in the infratemporal quadrant in 8 eyes (15.4%). The operation success rate [complete success rate, 86.5% (45/52); conditional success rate, 9.6% (5/52)] was 96.2% (50/52). The filtering bleb scarring occurred in 9.6% (5/52) of eyes. A small amount of hyphema, postoperative shallow anterior chamber, transient hypertension, and intraoperative drain breakage were found in 7.7% (4/52) of eyes, respectively. A small amount of subconjunctival bleeding was observed in 5.8%(3/52) of eyes. Re-implantation of an XEN gel stent was performed in 5.8% (3/52) of eyes. The intraoperative conjunctival tissue rupture, hypotony macular edema, and drain exposure were observed in 1.9% (1/52) of eyes, respectively. <b>Conclusion:</b> The XEN gel stent implantation or combined with phacoemusification and IOL implantation was effective and safe in treating different types of glau","PeriodicalId":39688,"journal":{"name":"中华眼科杂志","volume":"60 9","pages":"746-756"},"PeriodicalIF":0.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142297714","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 : 2024-09-11DOI: 10.3760/cma.j.cn112142-20231018-00153
J Zhu, J Liu, R R Zhu
Neovascular retinal diseases pose a significant burden, often resulting in visual impairment. Intravitreal injection of anti-vascular endothelial growth factor (VEGF) drugs serves as the primary therapeutic approach. Nonetheless, certain patients necessitate continued anti-VEGF treatment post-vitrectomy or other ocular surgeries. Emerging evidence suggests that variations in surgical techniques and postoperative vitreous cavity management may induce distinct intraocular pharmacokinetics (PK) of anti-VEGF agents following vitrectomy, prompting potential adjustments in therapeutic strategies. This review offers a thorough examination of the pharmacokinetic determinants impacting anti-VEGF drugs and their intraocular dynamics post-vitrectomy.
{"title":"[Pharmacokinetics of intravitreal anti-VEGF drugs in vitrectomized eyes].","authors":"J Zhu, J Liu, R R Zhu","doi":"10.3760/cma.j.cn112142-20231018-00153","DOIUrl":"10.3760/cma.j.cn112142-20231018-00153","url":null,"abstract":"<p><p>Neovascular retinal diseases pose a significant burden, often resulting in visual impairment. Intravitreal injection of anti-vascular endothelial growth factor (VEGF) drugs serves as the primary therapeutic approach. Nonetheless, certain patients necessitate continued anti-VEGF treatment post-vitrectomy or other ocular surgeries. Emerging evidence suggests that variations in surgical techniques and postoperative vitreous cavity management may induce distinct intraocular pharmacokinetics (PK) of anti-VEGF agents following vitrectomy, prompting potential adjustments in therapeutic strategies. This review offers a thorough examination of the pharmacokinetic determinants impacting anti-VEGF drugs and their intraocular dynamics post-vitrectomy.</p>","PeriodicalId":39688,"journal":{"name":"中华眼科杂志","volume":"60 9","pages":"787-792"},"PeriodicalIF":0.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142297720","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}