Ocular phenotypes associated with autism and atypical neurodevelopment: Insights from electronic health records

IF 2.2 4区心理学 Q4 NEUROSCIENCES

Vision Research Pub Date : 2026-05-01 Epub Date: 2026-01-27 DOI:10.1016/j.visres.2026.108767

Antoinette S. DiCriscio , Julie-Anne Little , Vanessa Troiani

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Abstract

Atypical visual perception is often described in autism spectrum disorder (ASD); however, few studies have characterized ocular conditions in ASD using basic vision metrics such as those collected in routine eye exams. The current study uses electronic health record (EHR) codes to establish ocular phenotypes across individuals with and without neurodevelopmental diagnoses, including ASD. Using a population health approach, we assessed ocular conditions (identified based on medical codes from the EHR) in N = 7518 pediatric patients across 4 groups: n = 1196 with ASD, n = 156 with Intellectual Disability (ID), n = 347 with Language Disorder (LD), and n = 5819 matched controls (MC). We grouped and summarized ocular conditions across 5 ocular classes, including: (1) Visual impairment; (2) Refractive error, Accommodative & Vergence disorders; (3) Eye movements, Strabismus & Oculomotor Disorders; (4) Retinal disorders & Ocular disease; (5) Photosensitivity & Atypical Pupil response. We find an increased rate of ocular conditions in diagnostic groups compared to matched controls across classes 1 and 3. This study highlights the use of EHR data to curate ocular condition metrics collected in clinical care. The characterization of ocular anomalies across categories using EHR data offers a scalable method to improve our understanding of vision phenotypes that may be present in children with ASD and other neurodevelopmental differences.

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与自闭症和非典型神经发育相关的眼部表型：来自电子健康记录的见解

非典型视觉知觉常被描述为自闭症谱系障碍（ASD）；然而，很少有研究使用常规眼科检查中收集的基本视力指标来表征ASD的眼部状况。目前的研究使用电子健康记录（EHR）代码来建立包括ASD在内的有和没有神经发育诊断的个体的眼部表型。采用人群健康方法，我们评估了4组N = 7518名儿童患者的眼部状况（根据EHR的医疗代码进行识别）：N = 1196名ASD患者，N = 156名智力障碍患者（ID）， N = 347名语言障碍患者（LD）， N = 5819名匹配对照组（MC）。我们对5类眼部疾病进行了分组和总结，包括：(1)视力障碍；(2)屈光不正、调节性聚光障碍；(3)眼球运动、斜视及动眼病；(4)视网膜疾病及眼部疾病；(5)光敏和非典型瞳孔反应。我们发现，与1级和3级的对照组相比，诊断组的眼部疾病发生率有所增加。本研究强调了在临床护理中使用电子病历数据来整理眼部状况指标。利用电子病历数据对不同类别的眼部异常进行表征，提供了一种可扩展的方法，以提高我们对ASD儿童和其他神经发育差异中可能存在的视觉表型的理解。

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来源期刊

Vision Research 医学-神经科学

CiteScore

3.70

自引率

16.70%

发文量

111

审稿时长

66 days

期刊介绍： Vision Research is a journal devoted to the functional aspects of human, vertebrate and invertebrate vision and publishes experimental and observational studies, reviews, and theoretical and computational analyses. Vision Research also publishes clinical studies relevant to normal visual function and basic research relevant to visual dysfunction or its clinical investigation. Functional aspects of vision is interpreted broadly, ranging from molecular and cellular function to perception and behavior. Detailed descriptions are encouraged but enough introductory background should be included for non-specialists. Theoretical and computational papers should give a sense of order to the facts or point to new verifiable observations. Papers dealing with questions in the history of vision science should stress the development of ideas in the field.