Wolfs R C, Klaver C C, Ramrattan R S, van Duijn C M, Hofman A, de Jong P T
Department of Epidemiology and Biostatistics, Erasmus University Medical School, Rotterdam, The Netherlands.
Arch Ophthalmol. 1998 Dec;116(12):1640-5. doi: 10.1001/archopht.116.12.1640.
To study familial aggregation of primary open-angle glaucoma in a general population and to determine the absolute and relative risks for first-degree relatives.
First-degree relatives of patients with glaucoma (n = 48) and control subjects (n = 155) from the population-based Rotterdam Study underwent a standardized examination, including perimetry.
Intraocular pressure, vertical cup-disc ratio; and the presence of glaucoma, defined as a visual field defect with a cup-disc ratio of 0.7 or higher or asymmetry of 0.3 or higher between both eyes.
The prevalence of glaucoma was 10.4% in siblings of patients, 1.1% in offspring of patients, 0.7% in siblings of controls, and 0% in offspring of controls. Life-time risk of elevated intraocular pressure in relatives of patients vs relatives of controls was 42.5% vs 6.7%, of enlarged cup-disc ratio was 62.2% vs 16.6%, and of glaucoma was 22.0% vs 2.3%, yielding a risk ratio for glaucoma of 9.2 (95% confidence interval = 1.2-73.9). The population-attributable risk of glaucoma was 16.4%.
In a general population, relatives of patients with glaucoma have a strongly increased risk of glaucoma. Enlarged cup-disc ratio, not intraocular pressure, was the earliest and most prominent feature of familial aggregation. Further studies are needed to disentangle the genetic components of the increased familial risk.
研究普通人群中原发性开角型青光眼的家族聚集性，并确定一级亲属患青光眼的绝对风险和相对风险。
基于鹿特丹研究，对青光眼患者的一级亲属（n = 48）和对照者（n = 155）进行标准化检查，包括视野检查。
眼压、垂直杯盘比；青光眼的诊断标准为视野缺损且杯盘比≥0.7或双眼杯盘比不对称≥0.3。
患者同胞中青光眼患病率为10.4%，患者后代中为1.1%，对照者同胞中为0.7%，对照者后代中为0%。患者亲属与对照者亲属眼压升高的终生风险分别为42.5%和6.7%，杯盘比增大的风险分别为62.2%和16.6%，青光眼的风险分别为22.0%和2.3%，青光眼的风险比为9.2（95%置信区间 = 1.2 - 73.9）。青光眼的人群归因风险为16.4%。
在普通人群中，青光眼患者的亲属患青光眼的风险显著增加。杯盘比增大而非眼压升高是家族聚集的最早和最显著特征。需要进一步研究以厘清家族性风险增加的遗传因素。
