Long-term retinal imaging of a case of suspected congenital rubella infection.
Long-term retinal imaging of a case of suspected congenital rubella infection.
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DOI：
10.1016/j.ajoc.2021.101241
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发表时间：
2022-03
影响因子：
--
通讯作者：
Connor TB
中科院分区：
文献类型：
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作者：
Langlo CS;Trotter A;Reddi HV;Schilter KF;Tyler RC;Udani R;Neitz M;Carroll J;Connor TB
许多视网膜疾病表现为色素视网膜病变，其中大多数是进行性疾病。在这里，我们提出超过9年的随访病例稳定色素视网膜病变，怀疑源于先天性风疹感染。在这一时期，我们对中央凹旁锥状体光感受器进行了跟踪，以深入了解这种色素视网膜病变中光感受器的破坏。患者共就诊8次，共111个月。基线检查包括临床眼底检查、全视野视网膜电图（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进行。眼底摄影、光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（AOSLO）进行影像学检查。对于后四个时间点，AOSLO成像还包括分裂检测器成像。在这个病人中没有发现听力或心脏健康的缺陷。在基线时发现极少量的视觉缺陷，在ERG上有轻微的杆状物抑制；最佳矫正视力在基线时为20/25 OD和20/20 OS，在整个随访期间稳定。OCT测视网膜厚度在正常范围内，但各时间点均可见中央凹发育不全，外核层厚度略低于正常范围。整个随访期间，锥体密度相对稳定。在共聚焦AOSLO成像中观察到许多锥体无反射，密度明显低于预期值（平均43,782个锥体/mm2）。遗传分析显示没有解释表型的致病变异。这个病人似乎有一个稳定的色素视网膜病变。这种情况可能是由于先天性损伤，而不是进行性视网膜疾病。这一稳定性发现与其他关于风疹色素视网膜病变的报道一致。用AOSLO成像可以观察到两个显著的表型特征。首先是观察到的暗视锥，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，视锥细胞密度远低于预期——这一点特别有趣，因为尽管中央凹中正常波导视锥细胞的数量大大减少，但该患者的视力仍接近正常。
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. 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. 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. 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.