Eye (Lond). 2025 Apr 10. doi: 10.1038/s41433-025-03787-1. Online ahead of print.
ABSTRACT
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.
PMID:40211016 | DOI:10.1038/s41433-025-03787-1
