Department of Surgical and Clinical, Diagnostic and Pediatric Sciences, Section of Ophthalmology, IRCCS Fondazione Policlinico San Matteo, University of Pavia, Pavia, Italy.
IRCCS Fondazione Bietti, Rome, Italy.
Adv Ther. 2020 Sep;37(9):3827-3838. doi: 10.1007/s12325-020-01432-9. Epub 2020 Jul 15.
Joubert syndrome (JS) is an autosomal recessive disorder characterized by a congenital malformation of the mid-hindbrain and a large spectrum of clinical features including congenital retinal dystrophy. The function of different retinal elements (rod, cone, bipolar cells) can be objectively evaluated by electroretinogram (ERG) recordings. Our work aims to evaluate the retinal function (by ERG recordings) in patients with JS with or without congenital retinal dystrophy. In addition, since clinical trials should be performed in the near future in JS, our results could provide information about the possible usefulness of ERG recordings in the assessment of the efficacy of treatments targeted to improve the retinal involvement.
In this observational and prospective study, 24 children with genetic identification for JS (mean age 10.75 ± 6.59 years) and 25 healthy age-similar normal control subjects (control group, mean age 10.55 ± 3.76 years) were enrolled. On the basis of the presence/absence of retinal dystrophy at fundus examination, patients with JS were divided into two groups: patients with JS with retinal dystrophy (16 children, mean age 11.00 ± 6.74 years, providing 16 eyes; JS-RD group) and patients with JS without retinal dystrophy (8 children, mean age 10.50 ± 6.45 years, providing 8 eyes; JS-NRD group). In patients with JS and controls, visual acuity (VA), dark-adapted, light-adapted, and 30-Hz flicker ERGs were performed according to International Society for Clinical Electrophysiology of Vision (ISCEV) standard protocols.
When compared to controls, patients in the JS-RD and JS-NRD groups showed significant abnormalities of the values of dark-adapted, light-adapted, and 30-Hz flicker ERG parameters. The ERG and VA changes were not significantly correlated.
Our results suggest that a dysfunction of photoreceptors and bipolar cells occurs in patients with JS with or without retinal dystrophy. The retinal impairment can be detected by ERG recordings and this method should be proposed to evaluate the effectiveness of adequate treatment targeted to improve the retinal impairment in patients with JS.
杰伯综合征（JS）是一种常染色体隐性遗传病，其特征为先天性中后脑畸形和广泛的临床特征，包括先天性视网膜营养不良。视网膜的不同元素（视杆细胞、视锥细胞、双极细胞）的功能可以通过视网膜电图（ERG）记录来客观评估。我们的工作旨在评估有或无先天性视网膜营养不良的 JS 患者的视网膜功能（通过 ERG 记录）。此外，由于即将在 JS 中进行临床试验，我们的结果可以为 ERG 记录在评估针对改善视网膜病变的治疗效果方面的可能有用性提供信息。
在这项观察性和前瞻性研究中，纳入了 24 名经基因鉴定的 JS 患儿（平均年龄 10.75±6.59 岁）和 25 名年龄相似的健康正常对照受试者（对照组，平均年龄 10.55±3.76 岁）。根据眼底检查是否存在视网膜营养不良，将 JS 患儿分为两组：有视网膜营养不良的 JS 患儿（16 名，平均年龄 11.00±6.74 岁，提供 16 只眼；JS-RD 组）和无视网膜营养不良的 JS 患儿（8 名，平均年龄 10.50±6.45 岁，提供 8 只眼；JS-NRD 组）。在 JS 患儿和对照组中，根据国际临床电生理学视觉协会（ISCEV）标准方案进行了视力（VA）、暗适应、明适应和 30-Hz 闪烁 ERG 的检测。
与对照组相比，JS-RD 组和 JS-NRD 组的暗适应、明适应和 30-Hz 闪烁 ERG 参数值明显异常。ERG 和 VA 变化之间无显著相关性。
我们的结果表明，JS 患儿无论是否存在视网膜营养不良，均存在视锥细胞和双极细胞功能障碍。ERG 记录可检测到视网膜损伤，应建议使用该方法评估针对改善 JS 患儿视网膜损伤的适当治疗的效果。
