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.