Risk of Ocular Pathology in Rett Syndrome.

IF 1.4 4区医学 Q4 OPHTHALMOLOGY

Journal of Pediatric Ophthalmology & Strabismus Pub Date : 2026-05-01 Epub Date: 2025-11-05 DOI:10.3928/01913913-20250806-01

Ashvin Babu, Faruk H Orge

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引用次数: 0

Abstract

Purpose: To assess the risk of developing ocular alignment disorders, refractive errors, amblyopia, and nystagmus in patients with Rett syndrome.

Methods: This retrospective cohort study used de-identified patient data from the TriNetX US Collaborative network and compared a Rett syndrome and a control cohort. Propensity score matching was conducted to balance demographics and well-characterized comorbidities. Statistical analysis calculated risk ratios (RRs) and 95% confidence intervals (CIs), with significance defined by excluding CIs between 0.9 and 1.1.

Results: Patients with Rett syndrome had an increased risk of developing strabismus (RR: 3.39; CI: 2.47 to 4.65) and risk for the specific horizontal subtypes of esotropia (RR: 4.06; CI: 2.26 to 7.26) and exotropia (RR: 2.92; CI: 1.83 ro 4.68). Additionally, patients with Rett syndrome had an increased risk of developing amblyopia (RR: 1.90; CI: 1.28 to 2.82) and nystagmus (RR: 1.98; CI: 1.12 to 3.53). No differences in risk were found for astigmatism, myopia, and hyperopia development given Rett syndrome diagnosis.

Conclusions: These findings demonstrate the importance of regularly monitoring ocular health in patients with Rett syndrome and a need for further investigation into the underlying mechanisms linking the disease with these specific ocular pathologies.

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Rett综合征的眼部病理风险。

目的：评估Rett综合征患者发生眼排列障碍、屈光不正、弱视和眼球震颤的风险。方法：这项回顾性队列研究使用来自TriNetX美国协作网络的未识别患者数据，并比较Rett综合征和对照队列。进行倾向评分匹配，以平衡人口统计学和特征明确的合并症。统计分析计算风险比（RRs）和95%置信区间（ci），通过排除ci在0.9 ~ 1.1之间来定义显著性。结果：Rett综合征患者发生斜视的风险增加（RR: 3.39; CI: 2.47 ~ 4.65），内斜视（RR: 4.06; CI: 2.26 ~ 7.26）和外斜视（RR: 2.92; CI: 1.83 ~ 4.68）的特定水平亚型风险增加。此外，Rett综合征患者发生弱视（RR: 1.90; CI: 1.28 - 2.82）和眼球震颤（RR: 1.98; CI: 1.12 - 3.53）的风险增加。在Rett综合征诊断下，散光、近视和远视的风险没有差异。结论：这些发现表明定期监测Rett综合征患者眼部健康的重要性，并需要进一步研究将该疾病与这些特定眼部病变联系起来的潜在机制。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Pediatric Ophthalmology & Strabismus 医学-小儿科

CiteScore

1.80

自引率

8.30%

发文量

115

审稿时长

>12 weeks

期刊介绍： The Journal of Pediatric Ophthalmology & Strabismus is a bimonthly peer-reviewed publication for pediatric ophthalmologists. The Journal has published original articles on the diagnosis, treatment, and prevention of eye disorders in the pediatric age group and the treatment of strabismus in all age groups for over 50 years.