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Background/Objective <p>To provide a large-scale analysis on the demographics and ocular comorbidities in Ehlers-Danlos Syndrome (EDS) patients in the US.</p> Subjects/Methods <p>This is an exploratory cross-sectional study comparing medical records of EDS patients to the general population on demographic variables and ICD-10 ocular diagnoses. A research platform with de-identified EHR data of over 99 million patients across 60 healthcare organizations was utilized. Groups were stratified by 30-year age groups. Patients aged 0–61+ with an ICD-10 diagnosis of EDS (76,526), the general platform population aged 0–61+ (99,836,639), and patients with a concurrent ICD-10 ocular diagnosis were queried to determine the prevalence of EDS across demographic variables, ocular disease, and odds of ocular disease. Statistical analysis was conducted using Microsoft Excel and R studio, using <i>p</i> &lt; 0.01 and 95% confidence intervals (CI).</p> Results <p>An EDS diagnosis was most prevalent in white females aged 0–30 years old (259.6 per 100,000). The majority of ocular diagnoses were more prevalent in the 0–60-year-old EDS population compared to the general population including myopia (5227.0 per 100,000) and dry eye (4211.6 per 100,000). Overall, diagnoses of angioid streaks (POR 18.72, 95% CI 10.32, 33.94) and idiopathic intracranial hypertension (IIH) (POR 18.43, 95% CI 17.51, 19.39) showed the highest increased odds in patients with EDS while significantly decreased odds were shown for type 2 diabetic retinopathy, age-related macular degeneration, and retinal vein occlusion.</p> Conclusions <p>EDS was associated with increased odds of having a concurrent ocular pathology, suggesting that, upon diagnosis of EDS, referral to ophthalmology may be valuable.</p>

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Ocular manifestations in Ehlers-Danlos syndrome

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年4月10日

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  • Sonia B. Kim,
  • Jacqueline K. Shaia,
  • David C. Kaelber,
  • Rishi P. Singh,
  • Katherine E. Talcott

摘要

Background/Objective

To provide a large-scale analysis on the demographics and ocular comorbidities in Ehlers-Danlos Syndrome (EDS) patients in the US.

Subjects/Methods

This is an exploratory cross-sectional study comparing medical records of EDS patients to the general population on demographic variables and ICD-10 ocular diagnoses. A research platform with de-identified EHR data of over 99 million patients across 60 healthcare organizations was utilized. Groups were stratified by 30-year age groups. Patients aged 0–61+ with an ICD-10 diagnosis of EDS (76,526), the general platform population aged 0–61+ (99,836,639), and patients with a concurrent ICD-10 ocular diagnosis were queried to determine the prevalence of EDS across demographic variables, ocular disease, and odds of ocular disease. Statistical analysis was conducted using Microsoft Excel and R studio, using p < 0.01 and 95% confidence intervals (CI).

Results

An EDS diagnosis was most prevalent in white females aged 0–30 years old (259.6 per 100,000). The majority of ocular diagnoses were more prevalent in the 0–60-year-old EDS population compared to the general population including myopia (5227.0 per 100,000) and dry eye (4211.6 per 100,000). Overall, diagnoses of angioid streaks (POR 18.72, 95% CI 10.32, 33.94) and idiopathic intracranial hypertension (IIH) (POR 18.43, 95% CI 17.51, 19.39) showed the highest increased odds in patients with EDS while significantly decreased odds were shown for type 2 diabetic retinopathy, age-related macular degeneration, and retinal vein occlusion.

Conclusions

EDS was associated with increased odds of having a concurrent ocular pathology, suggesting that, upon diagnosis of EDS, referral to ophthalmology may be valuable.