Chorioretinopathy

脉络膜视网膜病变
  • 文章类型: Journal Article
    目的:回顾所有报告SARS-COV-2感染后白点综合征(WDSs)发生的研究。
    方法:2023年5月12日,我们在PROSPERO上注册了我们的协议[注册号:CRD42023426012]。五个不同的数据库,包括PubMed,Scopus,WebofScience,谷歌学者,和科学直接搜索到2023年5月。我们纳入了所有报告SARS-COV-2感染后WDS症状的研究。使用统一的Excel提取表提取数据。所有统计测试均以95%的置信区间和5%的误差范围进行。小于0.05的P值被认为是统计学上显著的。纳入研究的发表偏倚使用JBI病例报告关键评估清单和IHE质量评估清单进行案例系列研究。
    结果:本综述包括32项研究,涉及48名患者。急性黄斑神经视网膜病变是最常见的疾病(70.8%),其次是多发性渐逝白点综合征(14.6%),其中58.3%的WDS在首次感染SARS-COV-2后,和中央急性中间黄斑病变(4.1%)。他们大多是单方面的(56.2%)。表现为视力模糊(70.8%),视野干扰(68.7%),和光视(20.8%)。约35.4%的患者通过治疗得到改善,未来的并发症是持续性暗点瘤(4.2%)和黄斑水肿(2.1%)。
    结论:白点综合征是非常罕见的实体。我们的发现表明白点综合征发病与SARS-COV-2感染之间可能存在关联。我们建议眼科医生应该意识到这一建议的关联,以提供更好的管理和患者护理。
    OBJECTIVE: To review all studies reporting the occurrence of white dot syndromes (WDSs) following SARS-COV-2 infection.
    METHODS: On May 12, 2023, we registered our protocol on PROSPERO [registration number: CRD42023426012]. Five different databases including PubMed, Scopus, Web of Science, Google Scholar, and Science Direct were searched up to May 2023. We included all studies that reported the symptoms of WDSs following SARS-COV-2 infection. The data was extracted using a uniform Excel extraction sheet. All statistical tests were conducted with a 95% confidence interval and a 5% error margin. A p-value of less than 0.05 was considered statistically significant. The publication bias of included studies was assessed using JBI Critical Appraisal Checklist for Case Reports and IHE Quality Appraisal Checklist for Case Series studies.
    RESULTS: This review included thirty-two studies involving forty-eight patients. Acute macular neuroretinopathy was the most common disease (70.8%) followed by multiple evanescent white dot syndrome (14.6%) with 58.3% of WDS after their first SARS-COV-2 infection, and paracentral acute middle maculopathy (4.1%). They were mostly unilateral (56.2%). The presenting symptoms were blurred vision (70.8%), visual field disturbance (68.7%), and photopsia (20.8%). About 35.4% of the patients improved by their treatment and future complications were persistent scotoma (4.2%) and macular edema (2.1%).
    CONCLUSIONS: White dot syndromes are very rare entities. Our findings suggest a possible association between white dot syndrome onset and SARS-COV-2 infection. We recommend ophthalmologists should be aware of this suggested association to deliver better management and patients\' care.
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  • 文章类型: Systematic Review
    目的:回顾所有报告在COVID-19疫苗接种后出现白点综合征的研究。
    方法:我们的方案在PROSPERO上登记[登记号:CRD42023426012]。我们搜索了五个不同的数据库包括PubMed,Scopus,WebofScience,谷歌学者,和科学直接到2023年5月。包括所有报道COVID-19疫苗后出现白点综合征的研究。所有统计测试均以95%的置信区间和5%的误差范围进行。小于0.05的p值被认为是统计学上显著的。纳入研究的方法学质量使用IHE质量评估清单进行案例系列研究和JBI关键评估清单进行案例报告。
    结果:纳入了涉及71名受试者的50项研究。多发性消逝白点综合征(MEWDS)是最常见的疾病(n=25,35.2%),其次是急性黄斑神经视网膜病变(AMN)(n=22,31.0%)和急性后部多灶性胎盘色素上皮病变(APMPPE)(n=4,5.6%)。他们大多是单方面的(n=50,70.4%)。表现为视力模糊(n=26,36.6%),腹侧暗点(n=19,26.8%),视野干扰,和光视(n=7,9.9%)。平均随访时间为10.15±14.04周。19名受试者(29.69%)接受了类固醇治疗,报告的改善率为68.4%。11名受试者(17.19%)仅通过观察进行管理,报告完全恢复和改善。
    结论:白点综合征是非常罕见的实体。我们的发现强调了COVID-19疫苗与白点综合征的发生之间的可能关联。然而,应实施高质量的大型研究以证实这些发现.
    OBJECTIVE: To review all studies reporting the onset of white dot syndromes following COVID-19 vaccines.
    METHODS: Our protocol was registered prospectively on PROSPERO [registration number: CRD42023426012]. We searched five different databases including PubMed, Scopus, Web of Science, Google Scholar, and Science Direct up to May 2023. All the studies that reported the occurrence of white dot syndrome following COVID-19 vaccines were included. All statistical tests were conducted with a 95% confidence interval and a 5% error margin. A p value of less than 0.05 was considered statistically significant. The methodological quality of included studies was performed using the IHE Quality Appraisal Checklist for Case Series studies and JBI Critical Appraisal Checklist for Case Reports.
    RESULTS: Fifty studies involving seventy-one subjects were included. Multiple evanescent white dot syndrome (MEWDS) was the most common disease (n = 25, 35.2% %), followed by acute macular neuroretinopathy (AMN) (n = 22, 31.0%) and acute posterior multifocal placoid pigment epitheliopathy (APMPPE) (n = 4, 5.6%). They were mostly unilateral (n = 50, 70.4%). The presenting symptoms were blurred vision (n = 26, 36.6%), paracentral scotoma (n = 19, 26.8%), visual field disturbance, and photopsia (n = 7, 9.9%). The mean duration for follow-up was 10.15 ± 14.04 weeks. Nineteen subjects (29.69%) received steroids with improvement reported in 68.4%. Eleven subjects (17.19%) were managed by observation only with reported full recovery and improvement.
    CONCLUSIONS: White dot syndromes are very rare entities. Our findings highlight a possible association between COVID-19 vaccines and the occurrence of white dot syndromes. However, larger studies with good quality should be implemented to confirm these findings.
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  • 文章类型: Journal Article
    为了调查COVID-19后脉络膜视网膜病变的发生,强调人口统计学特征,用药史,临床表现,诊断评估,和治疗方法,特别关注皮质类固醇的作用。
    我们的方案在PROSPERO(CRD42023457712)上进行了前瞻性注册。对数据库的系统搜索(PubMed,科克伦,WOS,Scopus)于2020年11月至2023年8月进行,以确定任何报告COVID-19患者脉络膜视网膜病变的原始研究。数据提取包括患者人口统计,COVID-19时间表,用药史,症状,诊断测试,和治疗结果。我们使用JoannaBriggs研究所(JBI)的关键评估工具来评估我们纳入研究的质量。
    我们确定了7例病例报告和2例病例系列,包括10例患者,六名女性和四名男性(平均年龄36.5岁),COVID-19后出现脉络膜视网膜病变。发病从感染后6天到3个月不等(平均=24.3天)。7例患者(70%)在COVID-19治疗期间有皮质类固醇使用史。症状包括视力丧失,视力模糊,和恶化。诊断评估显示,7例患者(70%)为中心性浆液性脉络膜视网膜病变,2例(20%)为点状内部脉络膜病变。治疗方法多种多样,皮质类固醇停药导致症状改善,而两名患者接受皮质类固醇治疗。据报道,5例停用皮质类固醇的患者视力有所改善,其中2例20/40后变为20/25,2例变为6/6,1例变为20/20,而第6例患者的视力未报告.关于两名接受皮质类固醇治疗的患者,仅1例报告视力,改善至20/20。
    本系统综述阐述了脉络膜视网膜病变的患病率和潜在关联,在COVID-19的背景下使用皮质类固醇。这种关系仍不清楚,因为在某些情况下,皮质类固醇停药后症状缓解,而另外两例患者接受糖皮质激素治疗,症状改善。
    UNASSIGNED: To investigate the occurrence of chorioretinopathy post-COVID-19, emphasizing demographic characteristics, medication history, clinical presentation, diagnostic evaluation, and treatment approaches, with a specific focus on the role of corticosteroid use.
    UNASSIGNED: Our protocol was registered prospectively on PROSPERO (CRD42023457712). A systematic search of databases (PubMed, Cochrane, WOS, Scopus) from November 2020 to August 2023 were performed to identify any original research reporting chorioretinopathy in COVID-19 patients. Data extraction included patient demographics, COVID-19 timeline, medication history, symptoms, diagnostic tests, and treatment outcomes. We used Joanna Briggs Institute (JBI) critical appraisal tool to assess the quality of our included studies.
    UNASSIGNED: We identified seven case reports and two case series including 10 patients, six females and four males (mean age 36.5 years), who exhibited chorioretinopathy after COVID-19. Onset varied from 6 days to three months post-infection (average = 24.3 days). Seven patients (70%) had a history of corticosteroid use during COVID-19 treatment. Symptoms included visual loss, blurred vision, and deterioration. Diagnostic assessments revealed central serous chorioretinopathy in seven patients (70%) and punctate inner choroidopathy in two (20%). Treatment approaches varied, with corticosteroid discontinuation leading to symptom improvement, while two patients were treated with corticosteroids. Five patients who discontinued corticosteroids were reported to have improvement in visual acuity, two of them changed to 20/25 after being 20/40, two changed to 6/6, and one changed to 20/20, while the visual acuity in the sixth patient was not reported. Regarding the two patients who were treated with corticosteroids, visual acuity was reported in one case only and it improved to 20/20.
    UNASSIGNED: This systematic review states the prevalence and potential association between chorioretinopathy, and corticosteroid use in the context of COVID-19. This relation is still unclear because of the relief of symptoms in some cases after corticosteroid discontinuation, while two other cases were treated with corticosteroids and their symptoms improved.
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  • 文章类型: Review
    小头症和脉络膜视网膜病变(MCCRP)是一种罕见的常染色体隐性(AR)疾病,以小头症为特征,发育迟缓,脉络膜视网膜病变,和视力障碍。我们表征了另一位MCCRP与TUBCGP4致病变异相关的患者的长期表型,并分析了文献中先前报道的病例。
    分析患有TUBGCP4相关MCCRP的患者的临床和遗传数据超过19年,并使用PubMed对先前报道的TUBCGP4变异患者进行文献搜索,Scopus,谷歌学者。
    使用外显子组测序进行的分子诊断证明了两种反式TUBCGP4变体:c.1669C>T(p。Arg557*)和c.1746G>T(p。Leu582=)。临床特征包括小头畸形,小眼症,穿孔的脉络膜视网膜病变,视力障碍,眼球震颤,法洛四联症与神经发育迟缓。确定了另外6例先前报告的TUBCGP4相关MCCRP病例。比较了它们的临床和遗传特征。
    TUBCGP4相关小头症和脉络膜视网膜病变,是一种罕见的常染色体隐性神经眼科疾病。我们先证者的临床特征已经稳定了二十年。该综合征的病理生理学尚未完全了解。
    UNASSIGNED: Microcephaly and chorioretinopathy (MCCRP) is a rare autosomal recessive (AR) disorder characterized by microcephaly, developmental delay, chorioretinopathy, and visual impairment. We characterized the long-term phenotype of an additional patient with MCCRP associated with TUBCGP4 pathogenic variants and analysed previously reported cases in the literature.
    UNASSIGNED: Analysis of clinical and genetic data of a patient with TUBGCP4-related MCCRP followed for more than 19 years and literature search for previously reported patients with TUBCGP4 variants using PubMed, Scopus, and Google Scholar.
    UNASSIGNED: Molecular diagnosis using exome sequencing demonstrated two TUBCGP4 variants in trans: c.1669C>T (p.Arg557*) and c.1746 G>T (p.Leu582=). Clinical characteristics included microcephaly, microphthalmia, punched-out chorioretinal lesions, vision impairment, nystagmus, Tetralogy of Fallot and neurodevelopmental delay. Another six previously reported cases of TUBCGP4-related MCCRP were identified. Their clinical and genetic characteristics are compared.
    UNASSIGNED: TUBCGP4-related microcephaly and chorioretinopathy, is a rare autosomal recessive neuro-ophthalmic disorder. Clinical characteristics in our proband have remained stable for two decades. The pathophysiology of this syndrome is not yet fully understood.
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  • 文章类型: Review
    常染色体隐性遗传性小头畸形和脉络膜视网膜病变-1(MCCRP1)是一种罕见的孟德尔疾病,由微管蛋白-γ复合物相关蛋白6(TUBGCP6,MIM#610053)功能变异的双等位基因丧失引起。这种疾病的临床特征包括小头畸形,认知障碍,变形特征,和可变的眼科异常,包括脉络膜视网膜病变。小头症可以在产前识别,并且在生命的第一年中视力障碍变得明显。临床表现类似于某些获得性疾病的发现,例如先天性弓形虫病和巨细胞病毒感染;因此,鉴于这种综合征对患者健康管理和家庭生殖计划的影响,认识和诊断这种综合征非常重要。迄今为止,仅报告了来自5个无关家庭的7例分子确诊患者.我们报告了另外四名患有TUBGCP6变异的无关患者,包括一名产前诊断,并回顾了所有已知病例的临床表型和基因型。该报告扩展了TUBGCP6的分子和表型谱,并包括与MCCRP1相关的其他产前发现。
    Autosomal recessive microcephaly and chorioretinopathy-1 (MCCRP1) is a rare Mendelian disorder resulting from biallelic loss of function variants in Tubulin-Gamma Complex Associated Protein 6 (TUBGCP6, MIM#610053). Clinical features of this disorder include microcephaly, cognitive impairment, dysmorphic features, and variable ophthalmological anomalies including chorioretinopathy. Microcephaly can be recognized prenatally and visual impairment becomes evident during the first year of life. The clinical presentation resembles the findings in some acquired conditions such as congenital toxoplasmosis and cytomegalovirus infections; thus, it is important to recognize and diagnose this syndrome in view of its impact on patient health management and familial reproductive plans. To date, only seven molecularly confirmed patients from five unrelated families have been reported. We report an additional four unrelated patients with TUBGCP6 variants including one prenatal diagnosis and review the clinical phenotypes and genotypes of all the known cases. This report expands the molecular and phenotypic spectrum of TUBGCP6 and includes additional prenatal findings associated with MCCRP1.
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  • 文章类型: Case Reports
    OBJECTIVE: To review a case of bilateral diffuse chorioretinopathy as a presenting sign of juvenile dermatomyositis (JDM) and review the literature regarding retinal manifestations associated with this disease.
    METHODS: Review of case record and literature regarding retinal manifestations related to juvenile dermatomyositis.
    RESULTS: A 13-year-old girl presented with bilateral diffuse chorioretinopathy as the presenting sign of juvenile dermatomyositis. A review of the literature suggests that retinopathy associated with JDM is a rare finding that is symptomatic to patients and often responds to systemic treatment of juvenile dermatomyositis. This is also the first documented case of paracentral acute middle maculopathy in the setting of juvenile dermatomyositis.
    CONCLUSIONS: Chorioretinopathy is a rare finding in juvenile dermatomyositis. While all patients with JDM likely do not warrant screening ophthalmologic examinations, any patient who has visual symptoms should have a careful dilated examination to evaluate for retinopathy or steroid-induced cataracts.
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  • 文章类型: Case Reports
    The microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a distinct microcephaly syndrome. The hallmark features, microcephaly, chorioretinopathy, and lymphedema are frequently recognized at birth. Another clinical entity, the chorioretinal dysplasia, microcephaly and mental retardation syndrome (CDMMR) is a highly overlapping syndrome characterized by more variable lymphedema. Recently, heterozygous mutations in KIF11, a gene encoding a critical spindle motor protein of the Kinesin family, have been reported in individuals with MLCRD, and in individuals with CDMMR. This finding is suggestive of a single clinically variable spectrum. Here, we report on de novo novel mutations of KIF11 in five individuals with severe microcephaly, marked simplification of the gyral pattern on neuroimaging, bilateral chorioretinopathy, and developmental delay. Three patients had congenital lymphedema, and one had congenital bilateral sensorineural hearing loss. This report, therefore, further expands the clinical and molecular spectrum of KIF11-associated microcephaly.
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