Consanguinity and Increased Risk of Congenital Ptosis: A Case-Control Study from Southern Iran.

IF 0.9 Q3 OPHTHALMOLOGY Journal of Current Ophthalmology Pub Date : 2022-10-01 DOI:10.4103/joco.joco_136_22

Mohammad Reza Khalili, Naser Owji, Elahe Zarei, Mohammadreza Nazari

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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.

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血缘关系和先天性上睑下垂风险增加:来自伊朗南部的病例对照研究。

目的:探讨血缘关系作为先天性上睑下垂的可能危险因素。方法:选取97例先天性上睑下垂患者为研究对象，对照组97例。对照组的年龄、性别、居住地与病例相匹配。计算各被试的近交系数(F)，计算各组近交系数(α)的平均值。结果:先天性上睑下垂患儿父母近亲婚姻率为54.6%，对照组为30.9%，差异有统计学意义(P < 0.002)。上睑下垂患者近交系数(α)均值为0.026，对照组近交系数(α)均值为0.016 (T = 2.51，自由度= 192,P = 0.0129)。结论:先天性上睑下垂患者的父母近亲通婚率明显较高。它暗示先天性上睑下垂的病因可能是隐性的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Current Ophthalmology OPHTHALMOLOGY-

CiteScore

2.50

自引率

6.70%

发文量

审稿时长

8 weeks

期刊介绍： Peer Review under the responsibility of Iranian Society of Ophthalmology Journal of Current Ophthalmology, the official publication of the Iranian Society of Ophthalmology, is a peer-reviewed, open-access, scientific journal that welcomes high quality original articles related to vision science and all fields of ophthalmology. Journal of Current Ophthalmology is the continuum of Iranian Journal of Ophthalmology published since 1969.