Montazeri Fateme, Liu Yin Allison, Emami-Naeini Parisa
Tschannen Eye Institute, University of California, Davis, Sacramento, California.
Departments of Neurology and Neurosurgery, University of California, Davis, Sacramento, California.
Ophthalmol Sci. 2025 Jun 3;5(6):100842. doi: 10.1016/j.xops.2025.100842. eCollection 2025 Nov-Dec.
To assess retinal structures in patients with autism spectrum disorder (ASD) and its correlation with cognitive impairments and brain volumes.
A retrospective case-control study.
Adults with ASD and matched neurotypical controls were identified from the UK Biobank (UKBB). The exclusion criteria included a history of neurodegenerative diseases, optic nerve pathology, retinal disorders, glaucoma surgery, high refractive error, or intraocular pressure outside the range of 6 to 21 mmHg.
Using OCT images, 9 distinct retinal layers were segmented: the retinal nerve fiber layer (RNFL), ganglion cell layer, inner plexiform layer, inner nuclear layer (INL), combined outer plexiform layer and outer nuclear layer, photoreceptor inner segment, photoreceptor outer segment, retinal pigment epithelium, and choroidoscleral interface. Cognitive function was evaluated using 4 standardized tests: pairs matching, prospective memory, numerical or verbal reasoning, and reaction time. Additionally, brain imaging-derived phenotypes from the UKBB were included in the analysis. Generalized linear models were used to evaluate associations.
Differences in retinal layer thickness between autistic individuals and controls, and the association with cognitive impairment and brain volumes.
We examined 240 eyes, including 80 from autistic participants and 160 from matched neurotypical controls. Autistic participants showed significantly higher thickness in the inner retina (adjusted mean differences: 5.71 μm, 95% confidence interval [2.49-8.93], = 0.001), as well as RNFL (2.52 μm [0.97-4.06], = 0.001), inner plexiform layer (1.18 [0.28-2.07], = 0.010), and INL (0.93 [0.22-1.66], = 0.010). No significant correlation was found between inner retinal thickness and cognitive impairment. However, brain magnetic resonance imaging data indicated associations between inner retinal thickness and volumes of the total brain, corpus collosum, hippocampus, and temporal gyrus.
The inner retina may offer valuable insights into neurodevelopmental features in ASD, with observed associations with specific brain volumetric measurements. These findings could inform future research on ASD diagnostics and treatment.
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
评估自闭症谱系障碍（ASD）患者的视网膜结构及其与认知障碍和脑容量的相关性。
一项回顾性病例对照研究。
从英国生物银行（UKBB）中确定患有ASD的成年人和匹配的神经典型对照者。排除标准包括神经退行性疾病史、视神经病变、视网膜疾病、青光眼手术史、高度屈光不正或眼压不在6至21 mmHg范围内。
使用光学相干断层扫描（OCT）图像，对9个不同的视网膜层进行分割：视网膜神经纤维层（RNFL）、神经节细胞层、内网状层、内核层（INL）、外网状层和外核层合并层、光感受器内段、光感受器外段、视网膜色素上皮和脉络膜巩膜界面。使用4项标准化测试评估认知功能：配对匹配、前瞻性记忆、数字或语言推理以及反应时间。此外，分析中纳入了来自UKBB的脑成像衍生表型。使用广义线性模型评估关联。
自闭症个体与对照组之间视网膜层厚度的差异，以及与认知障碍和脑容量的关联。
我们检查了240只眼睛，其中包括80只来自自闭症参与者的眼睛和160只来自匹配的神经典型对照者的眼睛。自闭症参与者的视网膜内层厚度显著更高（调整后平均差异：5.71μm，95%置信区间[2.49 - 8.93]，P = 0.001），以及RNFL（2.52μm[0.97 - 4.06]，P = 0.001）、内网状层（1.18[0.28 - 2.07]，P = 0.010）和INL（0.93[0.22 - 1.66]，P = 0.010）。视网膜内层厚度与认知障碍之间未发现显著相关性。然而，脑磁共振成像数据表明视网膜内层厚度与全脑、胼胝体、海马体和颞叶回的体积之间存在关联。
视网膜内层可能为ASD的神经发育特征提供有价值的见解，观察到其与特定脑容量测量值之间存在关联。这些发现可为未来ASD诊断和治疗的研究提供信息。
在本文末尾的脚注和披露中可能会发现专有或商业披露信息。
