Purpose: To investigate the family aggregation and heritability of risk indicators of primary open-angle glaucoma.
Methods: During the baseline examination of the Beaver Dam Eye Study, standardized measurements of intraocular pressure were performed with a Goldmann applanation tonometer. Stereoscopic photographs of the optic discs were taken of both eyes of each study participant. The eyes were graded for the size of the optic disc and cup according to a standardized protocol, with graders masked to other subject characteristics. Family members who had participated in the examination phase were identified.
Results: Correlations in sibling pairs (n = 1136), parent-child pairs (n = 514), and cousin pairs (n = 1807) for intraocular pressure were 0.17, 0.18, and 0.12, respectively and were all statistically significant, whereas the spouse pair correlation was not. Correlations for sibling, parent-child, and avuncular pairs were higher for vertical optic disc, vertical optic cup, and vertical cup-to-disc ratio than for intraocular pressure. Heritability estimates were 0.36, 0.55, 0.57, and 0.48 for intraocular pressure, optic cup diameter, optic disc diameter, and cup-to-disc ratio, respectively. Correlations for the optic disc parameters were compatible with the amount of gene sharing in relative pairs of different degrees.
Conclusions: Risk indicators of open-angle glaucoma correlate highly in families, and the patterns are consistent with the hypothesis of genetic determinants of these factors.