Primary congenital glaucoma (PCG) and anterior segment defects (ASDs) are rare ocular malformations diagnosed early in life which can cause blindness. Pathogenic variants in several genes have been linked to these conditions, but little is known about nongenetic risk factors. We investigated the association between maternal nutrition and PCG and ASDs in the National Birth Defects Prevention Study, a large population‐based, multicenter case–control study of major birth defects in the United States. Mothers of cases (n = 152) and control infants without a birth defect (n = 9,178) completed an interview which included a food frequency questionnaire capturing usual dietary intake in the year before pregnancy. Maternal nutrition was assessed through individual nutrient intake, calculating a Diet Quality Index for Pregnancy (DQI‐P) score for each mother, and using latent class analysis to empirically derive four dietary patterns. We calculated adjusted odds ratios (aORs) and 95% confidence intervals (CI) using logistic regression. The results for individual nutrients varied, with some having an inverse or U‐shaped pattern of association with increasing intake. The DQI‐P was not associated with risk of PCG and ASDs (aOR 0.91; CI 0.49–1.66, highest vs. lowest quartile). The dietary pattern analysis suggested lower odds among women with a Prudent and Mexican dietary pattern (aOR 0.82, 95% CI 0.52–1.29; aOR 0.80, 95% CI 0.36–1.78, respectively) compared to those with a Western dietary pattern. We found that higher intake of some nutrients and certain dietary patterns may be inversely associated with PCG and ASDs, though caution is urged due to imprecision of estimates.

中文翻译：

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在国家出生缺陷预防研究中，母亲饮食是原发性先天性青光眼和眼前节缺陷的危险因素

原发性先天性青光眼 (PCG) 和眼前节缺损 (ASD) 是一种罕见的眼部畸形，可在生命早期诊断出来，可导致失明。一些基因的致病变异与这些疾病有关，但对非遗传风险因素知之甚少。我们在全国出生缺陷预防研究中调查了孕产妇营养与 PCG 和 ASD 之间的关联，这是一项针对美国主要出生缺陷的大型人群、多中心病例对照研究。病例的母亲 ( n = 152) 和无出生缺陷的对照婴儿 ( n= 9,178) 完成了一项访谈，其中包括一份食物频率问卷，其中记录了怀孕前一年的日常饮食摄入量。通过个体营养素摄入量、计算每位母亲的妊娠饮食质量指数 (DQI-P) 分数以及使用潜在类别分析来凭经验得出四种饮食模式来评估产妇营养。我们使用逻辑回归计算了调整后的优势比 (aOR) 和 95% 置信区间 (CI)。个别营养素的结果各不相同，有些与摄入量的增加呈反向或 U 形关联。DQI-P 与 PCG 和 ASD 风险无关（aOR 0.91；CI 0.49–1.66，最高与最低四分位数）。饮食模式分析表明，谨慎和墨西哥饮食模式的女性的几率较低（aOR 0.82，95% CI 0.52–1.29；aOR 0.80，95% CI 0.36–1.78，分别）与西方饮食模式的人相比。我们发现，某些营养素和某些饮食模式的较高摄入量可能与 PCG 和 ASD 呈负相关，但由于估计不精确，因此敦促谨慎。