2020–2021 BCSC Basic and Clinical Science Course™
Chapter 9: Primary Angle Closure
Family History and Genetics
The incidence of PAC is increased in first-degree relatives of affected individuals. In white individuals, the prevalence of PAC in first-degree relatives has been reported to be between 1% and 12%, whereas results from a survey in a Chinese population showed that the risk was 6 times higher in patients with any family history. Among the Inuit, the relative risk in persons with a family history is increased 3.5 times compared with the general Inuit population. These familial associations support a genetic influence in PAC. Recent genome-wide association studies have shown a complex genetic inheritance pattern with variable penetrance of genetic loci.
Rong SS, Tang FY, Chu WK, et al. Genetic associations of primary angle-closure disease: a systematic review and meta-analysis. Ophthalmology. 2016;123(6):1211–1221.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.