Garoufalis Pam, Chen Christine Y, Islam F M Amirul, Dirani Mohamed, Pertile Kelly K, Richardson Andrea J, Couper Terry A, Taylor Hugh R, Baird Paul N
Centre for Eye Research Australia, University of Melbourne, Victoria, Australia.
Optom Vis Sci. 2007 Jun;84(6):481-6. doi: 10.1097/OPX.0b013e31806dba75.
Proband-reported family histories are widely used in epidemiological and genetic studies. The accuracy of these reports may have significant effects on the intended outcome, particularly in genetic studies. This study aims to determine the accuracy of proband-reported family history of myopia and to assess whether demographic or clinical factors are predictive of an accurate history.
In 2004 to 2005, the study recruited 120 myopic probands (< or = -0.50 D spherical equivalent in both eyes) aged 18 to 72 years and 358 nuclear family members residing within Victoria, Australia as part of the Genes in Myopia (GEM) family study. Data collection used an examiner-administered questionnaire with an ocular examination. Proband-reported family history of myopia was evaluated for agreement with ophthalmic examination results of family members.
The statistical measures of accuracy used in this report were sensitivity, specificity, positive predictive value, and negative predictive value. Sensitivity varied from 85 to 98%, specificity from 84 to 96%, positive predictive value from 83 to 97%, and negative predictive value from 84 to 97%. Following multivariate analysis, an evaluation of demographic and clinical factors indicated that the highest predictive accuracy was obtained from proband reporting of their children [odds ratio (OR), 0.38; 95% confidence interval (CI), 0.15 to 0.94] whereas the most inaccurate reporting of a proband was when there was less-severe maternal myopia (per 0.50 D less myopic) (OR, 1.23; 95% CI, 1.06 to 1.43) or for increase in total education of the proband (per 1 year increase) (OR, 1.22; 95% CI, 1.04 to 1.42).
Several variables influence the accuracy of obtaining a family history of myopia. A questionnaire-based approach alone will introduce some error into the study and this should be taken into account when designing and undertaking family-based epidemiological or genetic studies of myopia.
先证者报告的家族史在流行病学和遗传学研究中被广泛使用。这些报告的准确性可能对预期结果产生重大影响，尤其是在遗传学研究中。本研究旨在确定先证者报告的近视家族史的准确性，并评估人口统计学或临床因素是否可预测准确的家族史。
2004年至2005年，作为近视基因（GEM）家族研究的一部分，该研究招募了120名年龄在18至72岁之间的近视先证者（双眼等效球镜度数≤-0.50 D）以及居住在澳大利亚维多利亚州的358名核心家庭成员。数据收集采用由检查人员管理的问卷并进行眼部检查。评估先证者报告的近视家族史与家庭成员的眼科检查结果是否一致。
本报告中使用的准确性统计指标为灵敏度、特异度、阳性预测值和阴性预测值。灵敏度从85%到98%不等，特异度从84%到96%不等，阳性预测值从83%到97%不等，阴性预测值从84%到97%不等。多因素分析后，对人口统计学和临床因素的评估表明，先证者对其子女的报告预测准确性最高[比值比（OR），0.38；95%置信区间（CI），0.15至0.94]，而当先证者母亲近视程度较轻（每低0.50 D）（OR，1.23；95% CI，1.06至1.43）或先证者总教育年限增加（每增加1年）（OR，1.22；95% CI，1.04至1.42）时，先证者的报告最不准确。
多个变量会影响获取近视家族史的准确性。仅基于问卷的方法会给研究带来一些误差，在设计和开展基于家族的近视流行病学或遗传学研究时应考虑到这一点。
