Familial aggregation of primary open angle glaucoma in Shanghai, China

PURPOSE: To identify familial aggregation of primary open angle glaucoma (POAG) in first-degree relatives in Shanghai, China. METHODS: This was a prospective case-control study. First-degree relatives of 113 POAG patients and 119 normal controls underwent a standardized ophthalmic examination. Each participant was diagnosed as normal, glaucoma suspect or glaucoma. The prevalence of glaucoma and glaucoma suspect in each group was calculated, and the odds ratio (OR) and 95% confidence interval (CI) for family history were estimated using the Generalized Estimating Equations model. RESULTS: Of 531 first-degree relatives in the case group, 67 (12.62%) were identified to have POAG, a rate eight times higher than that of the control group (8 of 526, 1.52%). In family units, the prevalence OR value of glaucoma was 8.77 (95% CI: 3.73–20.62). The effect of family history on parents, siblings, and offspring of probands was statistically significant, with OR values of 6.92 (95% CI: 1.90–25.18), 11.29 (95% CI: 3.63–35.11), and 11.35 (95% CI: 1.69–76.21), respectively. In the case of glaucoma suspect, a significant effect was found for both family units (OR 5.60; 95% CI: 1.15–27.21) and offspring (10.83 OR; 95% CI: 1.34–87.73). CONCLUSIONS: In Shanghai, relatives of glaucoma patients have a strongly increased risk of glaucoma, and priorities for glaucoma screening should target this population. The study demonstrates that familial aggregation of POAG transcends racial and cultural boundaries.