The Heritability of Primary Angle Closure Anatomic Traits and Predictors of Angle Closure in South Indian Siblings

Abstract

Purpose: To estimate the heritability of ocular biometric and anterior chamber morphologic parameters and to determine predictors of angle closure concordance in South Indian probands with angle closure and their siblings DESIGN: Prospective observational cohort study METHODS: Subjects received a standardized ophthalmic examination, A-scan ultrasonography, pachymetry, and anterior segment optical coherence tomography (ASOCT) imaging. Heritability was calculated using residual correlation coefficients adjusted for age, sex, and home setting. Concordant sibling pairs were defined as both proband and sibling with angle closure. Predictors of angle closure concordance among siblings were calculated using multivariable logistic regression models.

Results: A total of 345 sibling pairs participated. All anterior chamber parameters were highly heritable (P < .001 for all). Similarly, all iris parameters, axial length, lens thickness (LT), central corneal thickness, anterior lens curvature, lens vault (LV), spherical equivalent, and intraocular pressure were moderately to highly heritable (P < .004 for all). LV and LT were more heritable among concordant siblings (P < .05 for both). In contrast, ASOCT angle parameters had statistically insignificant heritability estimates. In multivariable analyses, siblings older than their probands were more likely to be concordant for angle closure (OR 1.05, 95% CI 1.01, 1.09; P = .02) and siblings with deeper anterior chamber depths (ACDs) compared to their proband were less likely to be concordant for angle closure (OR 0.74, 95% CI 0.64, 0.86; P < .001).

Conclusions: Iris, anterior chamber, and lens parameters may be heritable whereas angle parameters were not. LT and LV may play important roles in the pathogenesis of angle closure. Siblings who are older or have a shallower ACD may need more careful disease monitoring.