Paediatric Endocrinology Unit - Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
Pediatric Ophthalmology Unit, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
Front Endocrinol (Lausanne). 2021 Nov 12;12:729056. doi: 10.3389/fendo.2021.729056. eCollection 2021.
Experimental evidence suggests that the clinical manifestations of Triple A syndrome result from oxidative stress. Several conditions caused by oxidative stress display retinal involvement. Our objective was to assess the retina and optic nerve involvement in children with Triple A syndrome.
Eleven patients with genetically proven Triple A syndrome followed-up in our centre were approached for study participation. The main outcome was the measurement of the thicknesses of the different retinal layers by Optical Coherence Tomography (OCT).
9 patients with triple A syndrome had OCT measurements. 7 patients were children and 2 were adults; 4 were females and 5 were males. The 7 paediatric patients had at least two OCT measured at a mean interval of 7.9 months after the first one. The average Retinal Nerve Fibre Layer thickness was 74 ± 10 µm in patients compared to the paediatric reference range of 100 ± 2 µm (p<0.05).
This is the first study to document retinal layer thicknesses in a series of patients with Triple A syndrome. Nearly all retinal thickness and peripapillary RNFL measurements were very significantly inferior to the reference range in Triple A patients, whatever their age. RNFL thinning was more marked at the temporal part of the optic nerve. OCT being non-invasive, it represents a promising tool to assess the severity of neurodegeneration in patients with Triple A syndrome.
实验证据表明， Triple A 综合征的临床表现是由氧化应激引起的。几种由氧化应激引起的疾病会导致视网膜受累。我们的目的是评估 Triple A 综合征患儿的视网膜和视神经受累情况。
我们联系了在我们中心接受治疗的 11 名经基因证实的 Triple A 综合征患者，以参与研究。主要结果是通过光学相干断层扫描（OCT）测量不同视网膜层的厚度。
9 名 Triple A 综合征患者进行了 OCT 测量。其中 7 名患者为儿童，2 名患者为成人；4 名女性，5 名男性。7 名儿科患者至少有两次 OCT 测量，两次测量的平均间隔为首次测量后 7.9 个月。与儿科参考范围 100 ± 2 µm 相比，患者的视网膜神经纤维层平均厚度为 74 ± 10 µm（p<0.05）。
这是第一项在一系列 Triple A 综合征患者中记录视网膜层厚度的研究。几乎所有的视网膜厚度和视盘周围 RNFL 测量值在 Triple A 患者中都明显低于参考范围，无论其年龄大小。视神经颞部的 RNFL 变薄更为明显。OCT 是非侵入性的，它代表了一种有前途的工具，可以评估 Triple A 综合征患者的神经退行性变的严重程度。
