Rach Héloïse, Kilic-Huck Ulker, Geoffroy Pierre A, Bourcier Tristan, Braun Sophie, Comtet Henri, Ruppert Elisabeth, Hugueny Laurence, Hebert Marc, Reynaud Eve, Bourgin Patrice
Institute for Cellular and Integrative Neurosciences, CNRS UPR 3212 & Strasbourg University, Strasbourg, France.
CIRCSom (International Research Center for ChronoSomnology) & Sleep Disorders Center, Strasbourg University Hospital, Strasbourg, France.
J Sleep Res. 2025 Feb;34(1):e14278. doi: 10.1111/jsr.14278. Epub 2024 Jul 12.
Hypersomnia spectrum disorders are underdiagnosed and poorly treated due to their heterogeneity and absence of biomarkers. The electroretinography has been proposed as a proxy of central dysfunction and has proved to be valuable to differentiate certain psychiatric disorders. Hypersomnolence is a shared core feature in central hypersomnia and psychiatric disorders. We therefore aimed to identify biomarkers by studying the electroretinography profile in patients with narcolepsy type 1, idiopathic hypersomnia and in controls. Cone, rod and retinal ganglion cells electrical activity were recorded with flash-electroretinography in non-dilated eye of 31 patients with idiopathic hypersomnia (women 84%, 26.6 ± 5.9 years), 19 patients with narcolepsy type 1 (women 63%, 36.6 ± 12.7 years) and 43 controls (women 58%, 30.6 ± 9.3 years). Reduced cone a-wave amplitude (p = 0.039) and prolonged cone (p = 0.022) and rod b-wave (p = 0.009) latencies were observed in patients with narcolepsy type 1 as compared with controls, while prolonged photopic negative response-wave latency (retinal ganglion cells activity) was observed in patients with idiopathic hypersomnia as compared with controls (p = 0.033). The rod and cone b-wave latency clearly distinguished narcolepsy type 1 from idiopathic hypersomnia and controls (area under the curve > 0.70), and the photopic negative response-wave latency distinguished idiopathic hypersomnia and narcolepsy type 1 from controls with an area under the curve > 0.68. This first original study shows electroretinography anomalies observed in patients with hypersomnia. Narcolepsy type 1 is associated with impaired cone and rod responses, whereas idiopathic hypersomnia is associated with impaired retinal ganglion cells response, suggesting different phototransduction alterations in both hypersomnias. Although these results need to be confirmed with a larger sample size, the electroretinography may be a promising tool for clinicians to differentiate hypersomnia subtypes.
由于其异质性和缺乏生物标志物，发作性睡病谱系障碍的诊断不足且治疗效果不佳。视网膜电图已被提议作为中枢功能障碍的替代指标，并已被证明对鉴别某些精神障碍有价值。过度嗜睡是中枢性过度嗜睡和精神障碍的共同核心特征。因此，我们旨在通过研究1型发作性睡病、特发性过度嗜睡患者以及对照组的视网膜电图特征来识别生物标志物。使用闪光视网膜电图记录了31例特发性过度嗜睡患者（女性占84%，年龄26.6±5.9岁）、19例1型发作性睡病患者（女性占63%，年龄36.6±12.7岁）和43名对照者（女性占58%，年龄30.6±9.3岁）未散瞳眼睛的视锥细胞、视杆细胞和视网膜神经节细胞的电活动。与对照组相比，1型发作性睡病患者的视锥细胞a波振幅降低（p = 0.039），视锥细胞（p = 0.022）和视杆细胞b波潜伏期延长（p = 0.009），而与对照组相比，特发性过度嗜睡患者的明视负反应波潜伏期（视网膜神经节细胞活动）延长（p = 0.033）。视杆细胞和视锥细胞b波潜伏期能明显区分1型发作性睡病与特发性过度嗜睡及对照组（曲线下面积>0.70），明视负反应波潜伏期能区分特发性过度嗜睡和1型发作性睡病与对照组，曲线下面积>0.68。这项首次的原创性研究显示了在过度嗜睡患者中观察到的视网膜电图异常。1型发作性睡病与视锥细胞和视杆细胞反应受损有关，而特发性过度嗜睡与视网膜神经节细胞反应受损有关，这表明两种过度嗜睡存在不同的光转导改变。尽管这些结果需要更大样本量来证实，但视网膜电图可能是临床医生鉴别过度嗜睡亚型的一个有前景的工具。
