rubella retinopathy

  • 文章类型: Case Reports
    风疹视网膜病变通常是一种良性疾病,对视力影响很小。然而,这些患者可发生脉络膜新生血管,威胁他们的视力。我们报告了一例6岁的风疹视网膜病变女孩,该女孩出现了新生血管膜,并通过观察成功治疗。在这些患者中治疗或观察的决定必须仔细权衡,两种选择的有效性主要取决于新生血管复合体的位置。
    Rubella retinopathy is usually a benign disorder with low impact on visual acuity. However, choroidal neovascularization can occur in these patients threatening their vision. We report the case of a 6-year-old girl with rubella retinopathy who developed a neovascular membrane and was successfully managed with observation. Decision to treat or observe in these patients must be carefully weighed, with both options being valid depending mainly on the location of the neovascular complex.
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  • 文章类型: Journal Article
    目的:许多视网膜疾病表现为色素性视网膜病变,其中大多数是进步的条件。在这里,我们介绍了一例稳定的色素性视网膜病变的案例,该案例被怀疑是由先天性风疹感染引起的。在此期间跟踪了旁凹圆锥光感受器,以了解这种色素性视网膜病变中的光感受器破坏。
    方法:在总共111个月的8次就诊时对患者进行了检查。基线检查包括临床眼底检查,全场视网膜电图(ERG),动态视野评估(Goldmann),和最佳矫正视力;除ERG外,所有这些都在随访时重复。用眼底照相进行成像,谱域光学相干断层扫描(SD-OCT)和共聚焦自适应光学扫描光检眼镜(AOSLO)。对于后四个时间点,AOSLO成像还包括分裂检测器成像。
    结果:该患者未发现听力或心脏健康缺陷。在基线时发现最小的视觉缺陷,对ERG有轻度视杆抑制;基线时最佳矫正视力为20/25OD和20/20OS,在整个随访期间保持稳定。OCT测量的视网膜厚度在正常范围内,尽管在所有时间点都存在中央凹发育不全,并且外核层厚度略低于正常范围。在整个随访期间,锥体密度相对稳定。当用共聚焦AOSLO成像观察时,许多锥体是非反射性的,并且密度显著低于预期值(中央凹锥体密度平均为43,782个锥体/mm2)。遗传分析显示没有解释表型的致病变异。
    结论:该患者表现为稳定的色素性视网膜病变。这种情况可能是由于先天性侮辱,而不是进行性视网膜疾病。这一稳定性发现与风疹色素性视网膜病变的其他报道一致。用AOSLO成像能够观察到两个显著的表型特征。首先是对黑暗锥体的观察,这在许多视网膜疾病中都可以看到,包括色觉缺陷和退行性视网膜疾病。第二,视锥密度远低于预期-这是特别有趣的,因为尽管中央凹正常波导视锥的数量大大减少,但该患者的视力接近正常。
    OBJECTIVE: Many retinal disorders present with pigmentary retinopathy, most of which are progressive conditions. Here we present over nine years of follow up on a case of stable pigmentary retinopathy that is suspected to stem from a congenital rubella infection. Parafoveal cone photoreceptors were tracked through this period to gain insight into photoreceptor disruption in this pigmentary retinopathy.
    METHODS: The patient was examined at 8 visits spanning a total of 111 months. Examination at baseline included clinical fundus examination, full-field electroretinography (ERG), kinetic visual field assessment (Goldmann), and best corrected visual acuity; all of these except ERG were repeated at follow up visits. Imaging was performed with fundus photography, spectral-domain optical coherence tomography (SD-OCT) and confocal adaptive optics scanning light ophthalmoscopy (AOSLO). For the latter four time points AOSLO imaging also included split-detector imaging.
    RESULTS: There were no defects in hearing or cardiac health found in this patient. There were minimal visual deficits found at baseline, with mild rod suppression on ERG; best corrected visual acuity was 20/25 OD and 20/20 OS at baseline, which was stable throughout the follow-up period. Retinal thickness as measured by OCT was within the normal range, though foveal hypoplasia was present and outer nuclear layer thickness was slightly below the normal range at all time points. Cone density was relatively stable throughout the follow-up period. A number of cones were non-reflective when observed with confocal AOSLO imaging and density was markedly lower than expected values (foveal cone density was 43,782 cones/mm2 on average). Genetic analysis revealed no causative variations explaining the phenotype.
    CONCLUSIONS: This patient appears to have a stable pigmentary retinopathy. This case is likely due to a congenital insult, rather than progressive retinal disease. This finding of stability agrees with other reports of rubella pigmentary retinopathy. Imaging with AOSLO enabled observation of two notable phenotypic features. First is the observation of dark cones, which are seen in many retinal disorders including color vision defects and degenerative retinal disease. Second, the cone density is well below what is expected - this is especially interesting as this patient has near-normal visual acuity despite this greatly decreased number of normally-waveguiding cones in the fovea.
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  • 文章类型: Journal Article
    BACKGROUND: Rubella is an important infectious, vaccine-preventable etiology of congenital defects. The aim of the study was to develop a prediction nomogram to assess the probability of an infant being at risk for congenital rubella based on demographics and ophthalmological findings.
    METHODS: This was a cross-sectional sentinel surveillance study conducted at 5 centers spanning pan-India and involved 1134 infants. The diagnosis of rubella was made using standard guidelines. For the construction of the prediction model, laboratory-confirmed cases were grouped as \"at-risk\" (AR) infants and the discarded cases into \"not at risk\" (NAR) infants. Univariate analysis (p value cut-off < 0.05) followed by multivariate binary logistic regression model development was performed.
    RESULTS: The average (median) age of the suspected CRS infants was 3 (IQR 1-6) months, and the average (mean) age of their mothers was 25.8 ± 4.1 years. Out of the total infants, 81 (7.3%) died, 975 (88%) were alive, and 55 (5.0%) were lost to follow-up. The final model showed that the odds of cataract, retinopathy, glaucoma, microcornea, and age of the infant at presentation were 3.1 (2.2-4.3), 4.9(2.3-10.4), 2.7(1.1-5.9), 2.3(1.1-4.7), and 1.1 (1-1.1), respectively, for the AR infant as compared to NAR infant. AUC of final model was 0.68 (95% CI Delong, 0.64-0.72). Bootstrapping for calibration of the model showed satisfactory results. Nomogram, along with a web version, was developed.
    CONCLUSIONS: The developed nomogram would have a wide community-based utilization and will help in prioritizing attention to high-risk children, thereby avoiding loss to follow-up.
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  • 文章类型: Journal Article
    BACKGROUND: A phenocopy is an individual showing features (phenotype) characteristic of a genotype but produced environmentally rather than genetically (not inherited); these features are not due to mutations, as the underlying DNA sequence of the phenocopy is not altered.
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  • 文章类型: Case Reports
    OBJECTIVE: To report a case of choroidal neovascularization (CNV) associated with rubella retinopathy (RR) treated with intravitreal aflibercept.
    METHODS: A 15-year-old girl presented a complaint of visual decrease in her left eye. She had a history of hearing decrease since she was 1 year old in addition to patent ductus arteriosus. On ocular examination, the best corrected visual acuity (BCVA) was 20/20 in the right eye and 20/400 in the left eye. Dilated fundus examinations revealed a classic salt-and-pepper appearance in both eyes and a whitish subretinal lesion with retinal hemorrhages in the left macula. Fundus fluorescein angiography (FFA) of the left eye illustrated a pattern of diffuse spotty fluorescence with an active subfoveal CNV lesion, that hyperfluoresces in the early phases of the FFA, maintains well-demarcated borders, and leaks. Spectral domain optical coherence tomography (SD-OCT) revealed thickened and elevated retinal layers at the macula due to the subretinal and intraretinal fluid with foveal and extrafoveal protruding hyper-reflective lesion in the left eye. Single dose of intravitreal aflibercept was performed to the left eye and at the first month after the injection, the BCVA improved to 20/100 and the OCT revealed scar formation. At the follow-up visits, the macula was similar to those at the first month post-injection, and the BCVA was preserved. No additional injections were needed.
    CONCLUSIONS: Intravitreal aflibercept may be a treatment alternative, which provides satisfactory anatomical and functional results and leads to a better visual acuity in cases with RR complicated by CNV.
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