Consanguinity and Increased Risk of Congenital Ptosis

Abstract

Purpose: To assess consanguinity as a probable risk factor for congenital ptosis. Methods: In this case–control study, 97 patients with congenital ptosis and 97 participants as the control group were included. The age, sex, and residence area of the control group were matched with the cases. The inbreeding coefficient (F) was calculated for each participant, and the mean of the inbreeding coefficient (α) was calculated for each group. Results: The prevalence of consanguineous marriage in parents of cases with congenital ptosis and those of the control group was 54.6% and 30.9%, respectively (P < 0.002). The mean of the inbreeding coefficient (α) in patients with ptosis was 0.026, whereas it was 0.016 in the control group (T = 2.51, degree of freedom = 192, P = 0.0129). Conclusions: The rate of consanguineous marriage was significantly higher among the parents of patients with congenital ptosis. It implies a probable recessive pattern in the etiology of congenital ptosis.