Background: This study investigated the prevalence and risk factors for superior segmental optic hypoplasia (SSOH) in a Korean population based on the data from the nationwide Korea National Health and Nutrition Examination Survey (KNHANES). Methods: We performed a retrospective review of the KNHANES dataset covering January 2012 to December 2012. The study population comprised 5,612 subjects (≥19 years of age) who had participated in a medical interview covering demographic and systemic information, been issued a questionnaire regarding associated SSOH risk factors including gender, age, systemic disease, and family history, and had undergone an ophthalmologic examination. Two masked readers evaluated fundus photography, paying special attention to the presence of SSOH. Associations of risk factors (identified in the medical interview portion) with SSOH prevalence were investigated using multivariate logistic regression analysis. Results: SSOH was detected in 16 eyes of 14 subjects, or 0.24% of the 5,612 subjects. All 16 eyes showed a corresponding visual-field defect. In multivariate logistic regression analyses, maternal history of diabetes (Odds ratio (OR), 7.666; 95% Confidence interval (CI), 2.601 ∼ 22.593, p < 0.001) and paternal history of ischemic heart disease (IHD) (OR, 11.105; CI, 3.361 ∼ 36.686, p < 0.001) were associated with increased risk of SSOH. Conclusions: This study provides the first representative population-based data on SSOH prevalence in Korea. Additionally, multivariate analyses revealed that a history of maternal diabetes and paternal IHD was the most important factor influencing the prevalence of SSOH.
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